Incidental Mutation 'R4523:Pard3'
| ID |
334313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pard3
|
| Ensembl Gene |
ENSMUSG00000025812 |
| Gene Name |
par-3 family cell polarity regulator |
| Synonyms |
Par3, Pard3a, ASIP, D8Ertd580e, PAR-3 |
| MMRRC Submission |
042004-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4523 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128125108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 421
(P421S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000108752]
[ENSMUST00000159537]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000162536]
[ENSMUST00000161355]
[ENSMUST00000162176]
[ENSMUST00000162456]
[ENSMUST00000162309]
[ENSMUST00000162602]
[ENSMUST00000160766]
[ENSMUST00000162531]
[ENSMUST00000162907]
[ENSMUST00000160717]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026921
AA Change: P699S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1.1e-72 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
3e-10 |
PDB |
|
low complexity region
|
863 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
902 |
N/A |
INTRINSIC |
|
low complexity region
|
921 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
965 |
1005 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1200 |
N/A |
INTRINSIC |
|
low complexity region
|
1264 |
1281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079777
AA Change: P564S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: P564S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108752
AA Change: P564S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104383
Gene: ENSMUSG00000025812
AA Change: P564S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159537
AA Change: P642S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
AA Change: P642S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
6.7e-73 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
|
low complexity region
|
717 |
727 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
756 |
783 |
2e-10 |
PDB |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
910 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
943 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160272
AA Change: P699S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1.7e-60 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
|
low complexity region
|
878 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
936 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1215 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160581
AA Change: P689S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: P689S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
4 |
149 |
7.1e-73 |
PFAM |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
PDZ
|
285 |
364 |
2.34e-6 |
SMART |
|
low complexity region
|
434 |
443 |
N/A |
INTRINSIC |
|
PDZ
|
472 |
551 |
4.1e-20 |
SMART |
|
PDZ
|
589 |
674 |
9.87e-14 |
SMART |
|
low complexity region
|
764 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
983 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160593
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162727
AA Change: P70S
|
| SMART Domains |
Protein: ENSMUSP00000124359
Gene: ENSMUSG00000025812
AA Change: P70S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
2 |
56 |
8e-30 |
BLAST |
|
PDB:2KOH|A
|
2 |
61 |
4e-35 |
PDB |
|
SCOP:d1qaua_
|
4 |
55 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162536
AA Change: P655S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: P655S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
555 |
640 |
9.87e-14 |
SMART |
|
low complexity region
|
727 |
737 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
766 |
793 |
3e-10 |
PDB |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
low complexity region
|
862 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1132 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161355
AA Change: P699S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
7.2e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162176
AA Change: P421S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123944
Gene: ENSMUSG00000025812
AA Change: P421S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
1 |
83 |
4.11e-2 |
SMART |
|
low complexity region
|
153 |
162 |
N/A |
INTRINSIC |
|
PDZ
|
191 |
270 |
4.1e-20 |
SMART |
|
PDZ
|
321 |
406 |
9.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162456
AA Change: P564S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: P564S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
675 |
702 |
2e-10 |
PDB |
|
low complexity region
|
743 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
885 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162309
AA Change: P699S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
6.2e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
810 |
837 |
4e-10 |
PDB |
|
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1214 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162602
AA Change: P699S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
7.6e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
low complexity region
|
774 |
784 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
813 |
840 |
2e-10 |
PDB |
|
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
968 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1023 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160766
AA Change: P642S
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: P642S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
1e-72 |
PFAM |
|
PDZ
|
238 |
317 |
2.34e-6 |
SMART |
|
low complexity region
|
387 |
396 |
N/A |
INTRINSIC |
|
PDZ
|
425 |
504 |
4.1e-20 |
SMART |
|
PDZ
|
542 |
627 |
9.87e-14 |
SMART |
|
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
1090 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1192 |
1209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162531
AA Change: P686S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: P686S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
8.4e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
586 |
671 |
9.87e-14 |
SMART |
|
low complexity region
|
761 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
877 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162907
AA Change: P699S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124319
Gene: ENSMUSG00000025812
AA Change: P699S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
146 |
4.6e-73 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
282 |
361 |
2.34e-6 |
SMART |
|
low complexity region
|
431 |
440 |
N/A |
INTRINSIC |
|
PDZ
|
469 |
548 |
4.1e-20 |
SMART |
|
PDZ
|
599 |
684 |
9.87e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160717
AA Change: P564S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125612
Gene: ENSMUSG00000025812
AA Change: P564S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
PDZ
|
147 |
226 |
2.34e-6 |
SMART |
|
low complexity region
|
296 |
305 |
N/A |
INTRINSIC |
|
PDZ
|
334 |
413 |
4.1e-20 |
SMART |
|
PDZ
|
464 |
549 |
9.87e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162665
AA Change: P718S
|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: P718S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
21 |
166 |
1.4e-60 |
PFAM |
|
low complexity region
|
254 |
266 |
N/A |
INTRINSIC |
|
PDZ
|
302 |
381 |
2.34e-6 |
SMART |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
PDZ
|
489 |
568 |
4.1e-20 |
SMART |
|
PDZ
|
619 |
704 |
9.87e-14 |
SMART |
|
low complexity region
|
791 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
1010 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1205 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161277
AA Change: P617S
|
| SMART Domains |
Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
AA Change: P617S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
3 |
122 |
9.6e-37 |
PFAM |
|
PDZ
|
214 |
293 |
2.34e-6 |
SMART |
|
low complexity region
|
363 |
372 |
N/A |
INTRINSIC |
|
PDZ
|
401 |
480 |
4.1e-20 |
SMART |
|
PDZ
|
518 |
603 |
9.87e-14 |
SMART |
|
low complexity region
|
693 |
703 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
732 |
759 |
2e-10 |
PDB |
|
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
838 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
919 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
G |
T |
5: 67,824,943 (GRCm39) |
T796K |
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,916 (GRCm39) |
S78P |
probably damaging |
Het |
| Calb2 |
C |
T |
8: 110,875,141 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdca7 |
A |
G |
2: 72,310,042 (GRCm39) |
S77G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Cnot2 |
C |
T |
10: 116,417,379 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
A |
19: 31,060,482 (GRCm39) |
V6D |
possibly damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,314,085 (GRCm39) |
I852V |
probably damaging |
Het |
| Dmgdh |
C |
T |
13: 93,825,138 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,491,979 (GRCm39) |
F1138S |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,598,915 (GRCm39) |
A998T |
possibly damaging |
Het |
| Dusp5 |
T |
G |
19: 53,526,032 (GRCm39) |
Y225D |
probably damaging |
Het |
| Fam193a |
G |
A |
5: 34,600,715 (GRCm39) |
D601N |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,715,277 (GRCm39) |
K115R |
probably benign |
Het |
| Gak |
G |
T |
5: 108,724,432 (GRCm39) |
Q1093K |
probably benign |
Het |
| Gm5277 |
G |
T |
3: 78,799,493 (GRCm39) |
|
noncoding transcript |
Het |
| Hgsnat |
A |
G |
8: 26,458,389 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,120 (GRCm39) |
T410A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,523,048 (GRCm39) |
M338V |
probably benign |
Het |
| Map3k3 |
G |
A |
11: 106,039,694 (GRCm39) |
R278H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,154 (GRCm39) |
|
probably benign |
Het |
| Nectin3 |
C |
A |
16: 46,268,953 (GRCm39) |
R483L |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,791 (GRCm39) |
I474T |
probably benign |
Het |
| Optc |
G |
T |
1: 133,831,492 (GRCm39) |
T138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,525 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k22 |
C |
G |
2: 86,163,644 (GRCm39) |
D19H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,653,474 (GRCm39) |
E647D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,006 (GRCm39) |
|
probably benign |
Het |
| Prkce |
G |
T |
17: 86,798,178 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,697,947 (GRCm39) |
D656G |
unknown |
Het |
| Ptprk |
A |
T |
10: 28,342,048 (GRCm39) |
D485V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,839,620 (GRCm39) |
L381P |
probably damaging |
Het |
| Rnf144b |
T |
C |
13: 47,361,013 (GRCm39) |
I51T |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,711 (GRCm39) |
V118E |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,219,163 (GRCm39) |
G58D |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 75,984,196 (GRCm39) |
A46V |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,638 (GRCm39) |
Y18* |
probably null |
Het |
| Tgm7 |
C |
A |
2: 120,929,069 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
G |
17: 46,569,718 (GRCm39) |
V424A |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,773,864 (GRCm39) |
I414F |
probably damaging |
Het |
| Tsr3 |
C |
G |
17: 25,460,723 (GRCm39) |
D196E |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,941,409 (GRCm39) |
D68G |
probably damaging |
Het |
|
| Other mutations in Pard3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Pard3
|
APN |
8 |
128,086,299 (GRCm39) |
splice site |
probably benign |
|
|
IGL00484:Pard3
|
APN |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00674:Pard3
|
APN |
8 |
128,115,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01471:Pard3
|
APN |
8 |
128,104,727 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01505:Pard3
|
APN |
8 |
128,050,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Pard3
|
APN |
8 |
128,125,237 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02511:Pard3
|
APN |
8 |
127,888,070 (GRCm39) |
splice site |
probably benign |
|
|
IGL02838:Pard3
|
APN |
8 |
128,153,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02948:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02987:Pard3
|
APN |
8 |
128,115,972 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03037:Pard3
|
APN |
8 |
128,032,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03084:Pard3
|
APN |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB001:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
BB011:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Pard3
|
UTSW |
8 |
127,888,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Pard3
|
UTSW |
8 |
128,153,239 (GRCm39) |
splice site |
probably benign |
|
|
R0109:Pard3
|
UTSW |
8 |
128,125,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Pard3
|
UTSW |
8 |
128,103,378 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Pard3
|
UTSW |
8 |
128,337,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Pard3
|
UTSW |
8 |
128,097,967 (GRCm39) |
splice site |
probably benign |
|
|
R1055:Pard3
|
UTSW |
8 |
128,104,761 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1305:Pard3
|
UTSW |
8 |
128,032,891 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1619:Pard3
|
UTSW |
8 |
128,106,983 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1855:Pard3
|
UTSW |
8 |
128,174,293 (GRCm39) |
splice site |
probably null |
|
|
R2001:Pard3
|
UTSW |
8 |
127,791,097 (GRCm39) |
splice site |
probably null |
|
|
R2060:Pard3
|
UTSW |
8 |
128,125,085 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2064:Pard3
|
UTSW |
8 |
128,337,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Pard3
|
UTSW |
8 |
128,103,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2224:Pard3
|
UTSW |
8 |
128,086,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Pard3
|
UTSW |
8 |
128,337,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Pard3
|
UTSW |
8 |
128,136,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Pard3
|
UTSW |
8 |
128,200,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Pard3
|
UTSW |
8 |
128,336,939 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4243:Pard3
|
UTSW |
8 |
128,098,128 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4857:Pard3
|
UTSW |
8 |
128,050,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4876:Pard3
|
UTSW |
8 |
128,287,950 (GRCm39) |
intron |
probably benign |
|
|
R4877:Pard3
|
UTSW |
8 |
128,115,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Pard3
|
UTSW |
8 |
127,800,040 (GRCm39) |
splice site |
probably null |
|
|
R5215:Pard3
|
UTSW |
8 |
128,104,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Pard3
|
UTSW |
8 |
128,186,867 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5349:Pard3
|
UTSW |
8 |
128,142,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Pard3
|
UTSW |
8 |
128,096,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Pard3
|
UTSW |
8 |
128,153,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5681:Pard3
|
UTSW |
8 |
128,115,914 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5934:Pard3
|
UTSW |
8 |
128,115,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6034:Pard3
|
UTSW |
8 |
127,791,077 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6187:Pard3
|
UTSW |
8 |
127,800,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6382:Pard3
|
UTSW |
8 |
128,103,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Pard3
|
UTSW |
8 |
128,137,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Pard3
|
UTSW |
8 |
128,142,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Pard3
|
UTSW |
8 |
128,098,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7358:Pard3
|
UTSW |
8 |
128,319,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7528:Pard3
|
UTSW |
8 |
128,329,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Pard3
|
UTSW |
8 |
128,337,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Pard3
|
UTSW |
8 |
128,098,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7924:Pard3
|
UTSW |
8 |
128,137,231 (GRCm39) |
missense |
probably benign |
|
|
R8076:Pard3
|
UTSW |
8 |
128,142,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
|
R8259:Pard3
|
UTSW |
8 |
128,098,021 (GRCm39) |
nonsense |
probably null |
|
|
R8345:Pard3
|
UTSW |
8 |
128,050,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8421:Pard3
|
UTSW |
8 |
127,867,158 (GRCm39) |
intron |
probably benign |
|
|
R8500:Pard3
|
UTSW |
8 |
128,186,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Pard3
|
UTSW |
8 |
128,050,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8918:Pard3
|
UTSW |
8 |
128,098,011 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9005:Pard3
|
UTSW |
8 |
128,003,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Pard3
|
UTSW |
8 |
128,136,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9643:Pard3
|
UTSW |
8 |
128,115,900 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTTGGTCATTAGGCCAAGC -3'
(R):5'- GCATTAAGCCCCTCTCCATG -3'
Sequencing Primer
(F):5'- GTCATTAGGCCAAGCTGACAGTAC -3'
(R):5'- TCTCCATGAACGAGCAGGCTAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation