Incidental Mutation 'R6774:Pard3'
| ID |
532289 |
| 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 |
044890-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128137228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 859
(L859P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026921]
[ENSMUST00000079777]
[ENSMUST00000159537]
[ENSMUST00000160272]
[ENSMUST00000160581]
[ENSMUST00000160766]
[ENSMUST00000161355]
[ENSMUST00000162309]
[ENSMUST00000162456]
[ENSMUST00000162531]
[ENSMUST00000162536]
[ENSMUST00000162602]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026921
|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
| 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 |
possibly damaging
Transcript: ENSMUST00000079777
AA Change: L725P
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: L725P
| 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 |
possibly damaging
Transcript: ENSMUST00000159537
AA Change: L805P
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
AA Change: L805P
| 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: L860P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: L860P
| 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 |
possibly damaging
Transcript: ENSMUST00000160581
AA Change: L823P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: L823P
| 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 |
possibly damaging
Transcript: ENSMUST00000160766
AA Change: L773P
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: L773P
| 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 |
unknown
Transcript: ENSMUST00000161277
AA Change: L780P
|
| SMART Domains |
Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
AA Change: L780P
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161348
AA Change: L97P
|
| SMART Domains |
Protein: ENSMUSP00000123951
Gene: ENSMUSG00000025812
AA Change: L97P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
PDB:4DC2|Z
|
48 |
75 |
4e-11 |
PDB |
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161355
AA Change: L829P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: L829P
| 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 damaging
Transcript: ENSMUST00000162309
AA Change: L859P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: L859P
| 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 |
possibly damaging
Transcript: ENSMUST00000162456
AA Change: L725P
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: L725P
| 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 |
possibly damaging
Transcript: ENSMUST00000162531
AA Change: L820P
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: L820P
| 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: ENSMUST00000162536
AA Change: L815P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: L815P
| 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 |
possibly damaging
Transcript: ENSMUST00000162602
AA Change: L863P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: L863P
| 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 |
unknown
Transcript: ENSMUST00000162665
AA Change: L849P
|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: L849P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
| 9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
| Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
| Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
| Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
| Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
| Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
| F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
| Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,558,638 (GRCm39) |
T815K |
probably damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
| Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
| Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
| Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
| Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
| Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
| Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
| Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
| Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
probably benign |
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 |
|
R4523:Pard3
|
UTSW |
8 |
128,125,108 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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'- TGAGACAAAATGACTGGCATACTG -3'
(R):5'- CCATCTGTCACACGTATTGCTG -3'
Sequencing Primer
(F):5'- ATGAAGATGCTGTTTATTCTTCTCC -3'
(R):5'- GTCACACGTATTGCTGATAAATTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation