Incidental Mutation 'R5514:Pard3'
| ID |
440240 |
| 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 |
043074-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5514 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
127790643-128338767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128153086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 886
(R886G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124533
(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 damaging
Transcript: ENSMUST00000026921
AA Change: R958G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: R958G
| 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 damaging
Transcript: ENSMUST00000079777
AA Change: R838G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812
AA Change: R838G
| 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 damaging
Transcript: ENSMUST00000159537
AA Change: R918G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812
AA Change: R918G
| 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 damaging
Transcript: ENSMUST00000160272
AA Change: R973G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: R973G
| 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 damaging
Transcript: ENSMUST00000160581
AA Change: R936G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812
AA Change: R936G
| 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 |
probably damaging
Transcript: ENSMUST00000160766
AA Change: R886G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: R886G
| 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: R893G
|
| SMART Domains |
Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812
AA Change: R893G
| 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 |
noncoding transcript
Transcript: ENSMUST00000163002
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161355
AA Change: R942G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812
AA Change: R942G
| 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: R972G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: R972G
| 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 damaging
Transcript: ENSMUST00000162456
AA Change: R838G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124162
Gene: ENSMUSG00000025812
AA Change: R838G
| 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 damaging
Transcript: ENSMUST00000162531
AA Change: R933G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: R933G
| 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 damaging
Transcript: ENSMUST00000162536
AA Change: R928G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: R928G
| 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 damaging
Transcript: ENSMUST00000162602
AA Change: R976G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812
AA Change: R976G
| 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: ENSMUST00000161348
AA Change: R210G
|
| SMART Domains |
Protein: ENSMUSP00000123951
Gene: ENSMUSG00000025812
AA Change: R210G
| 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 |
unknown
Transcript: ENSMUST00000162665
AA Change: R962G
|
| SMART Domains |
Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: R962G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
| Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
| Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
| Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
| Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
| Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
| Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
| Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
| Krba1 |
T |
G |
6: 48,390,429 (GRCm39) |
L736R |
probably damaging |
Het |
| Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
| Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
| Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
| Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
| Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
| Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
| Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
| Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
|
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'- AGTCAGTGAAAGGTCCCCTTCG -3'
(R):5'- AACTGGAGACTCTGCTCAGG -3'
Sequencing Primer
(F):5'- CCTTCGCCATAGAATCTGTGGG -3'
(R):5'- AGACTCTGCTCAGGACTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation