Incidental Mutation 'R4945:Pcdhga11'
| ID |
381339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga11
|
| Ensembl Gene |
ENSMUSG00000102742 |
| Gene Name |
protocadherin gamma subfamily A, 11 |
| Synonyms |
|
| MMRRC Submission |
042542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4945 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37888826-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37891085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 698
(T698A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000193414]
[ENSMUST00000194928]
[ENSMUST00000193404]
[ENSMUST00000194544]
[ENSMUST00000194418]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000192931]
[ENSMUST00000208907]
[ENSMUST00000195823]
[ENSMUST00000195363]
[ENSMUST00000195112]
[ENSMUST00000195764]
|
| AlphaFold |
Q91XY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
AA Change: T698A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: T698A
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195764
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
G |
A |
2: 26,876,622 (GRCm39) |
R512H |
probably damaging |
Het |
| Adgrl2 |
T |
A |
3: 148,528,672 (GRCm39) |
M1158L |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,659,895 (GRCm39) |
H153Q |
probably damaging |
Het |
| Aldh1a2 |
C |
A |
9: 71,123,198 (GRCm39) |
Q24K |
probably benign |
Het |
| Atp1b1 |
A |
G |
1: 164,265,867 (GRCm39) |
V298A |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,631,163 (GRCm39) |
N74K |
possibly damaging |
Het |
| Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
| Cerk |
C |
G |
15: 86,040,802 (GRCm39) |
D186H |
probably benign |
Het |
| Cmtr2 |
T |
C |
8: 110,948,065 (GRCm39) |
F125S |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,548,106 (GRCm39) |
V650A |
unknown |
Het |
| Cuzd1 |
A |
G |
7: 130,918,350 (GRCm39) |
F196L |
probably damaging |
Het |
| Esm1 |
T |
G |
13: 113,346,679 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,183,325 (GRCm39) |
I1787F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,831,891 (GRCm39) |
M87V |
possibly damaging |
Het |
| Gpr179 |
T |
C |
11: 97,240,544 (GRCm39) |
H293R |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,475 (GRCm39) |
I302T |
probably damaging |
Het |
| Hoxb6 |
A |
G |
11: 96,190,085 (GRCm39) |
Y28C |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,048,454 (GRCm39) |
V110A |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,499,104 (GRCm39) |
D267G |
probably benign |
Het |
| Ighv1-49 |
C |
A |
12: 115,019,028 (GRCm39) |
V56L |
possibly damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,881 (GRCm39) |
M53I |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,086,730 (GRCm39) |
|
probably null |
Het |
| Lrif1 |
A |
C |
3: 106,643,069 (GRCm39) |
I725L |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,689,123 (GRCm39) |
V2265A |
probably benign |
Het |
| Med25 |
T |
C |
7: 44,532,526 (GRCm39) |
N438S |
possibly damaging |
Het |
| Mex3b |
A |
T |
7: 82,519,382 (GRCm39) |
T566S |
probably benign |
Het |
| Mkx |
T |
C |
18: 7,000,657 (GRCm39) |
N95S |
possibly damaging |
Het |
| Morc3 |
A |
T |
16: 93,668,082 (GRCm39) |
D820V |
probably damaging |
Het |
| Mroh4 |
G |
T |
15: 74,483,857 (GRCm39) |
N562K |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,346,201 (GRCm39) |
I276N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,019,037 (GRCm39) |
N733S |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,635,526 (GRCm39) |
M55L |
probably benign |
Het |
| Or2l13b |
C |
A |
16: 19,349,307 (GRCm39) |
R121L |
probably benign |
Het |
| Or51k1 |
G |
A |
7: 103,661,585 (GRCm39) |
T108I |
possibly damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,895 (GRCm39) |
T93A |
probably benign |
Het |
| Or5m13 |
T |
A |
2: 85,748,917 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or8b38 |
G |
T |
9: 37,973,068 (GRCm39) |
G151C |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,585 (GRCm39) |
I207F |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,833 (GRCm39) |
Y73C |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,383,301 (GRCm39) |
N268Y |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,774,173 (GRCm39) |
D446E |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,367,790 (GRCm39) |
V266A |
probably damaging |
Het |
| Phax |
G |
T |
18: 56,709,063 (GRCm39) |
R209L |
probably damaging |
Het |
| Pld2 |
T |
A |
11: 70,446,524 (GRCm39) |
M20K |
probably damaging |
Het |
| Rabl3 |
T |
C |
16: 37,362,220 (GRCm39) |
S20P |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,957,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,851 (GRCm39) |
E1090G |
probably benign |
Het |
| Rfc3 |
T |
C |
5: 151,566,450 (GRCm39) |
E333G |
probably damaging |
Het |
| Rfx6 |
T |
G |
10: 51,602,947 (GRCm39) |
Y821* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,261,972 (GRCm39) |
D2G |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,264,258 (GRCm39) |
A183E |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,805 (GRCm39) |
L303P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,065,520 (GRCm39) |
V162L |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,587 (GRCm39) |
V794A |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,444,021 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
C |
10: 121,387,174 (GRCm39) |
N707S |
probably damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,378,883 (GRCm39) |
H529L |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,960,633 (GRCm39) |
H106Q |
probably benign |
Het |
| Trim8 |
A |
G |
19: 46,491,214 (GRCm39) |
E111G |
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,725,794 (GRCm39) |
Y130C |
probably damaging |
Het |
| Txndc15 |
T |
A |
13: 55,865,978 (GRCm39) |
D147E |
probably benign |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,745 (GRCm39) |
L210H |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,105 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r49 |
T |
A |
7: 9,720,214 (GRCm39) |
K426* |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,210,722 (GRCm39) |
R206Q |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,941 (GRCm39) |
C170S |
possibly damaging |
Het |
| Zfp473 |
T |
C |
7: 44,383,988 (GRCm39) |
N115S |
probably benign |
Het |
| Zfp536 |
G |
T |
7: 37,269,161 (GRCm39) |
A85D |
probably damaging |
Het |
| Zfp853 |
C |
A |
5: 143,274,584 (GRCm39) |
Q345H |
unknown |
Het |
|
| Other mutations in Pcdhga11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0062:Pcdhga11
|
UTSW |
18 |
37,941,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2571:Pcdhga11
|
UTSW |
18 |
37,889,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Pcdhga11
|
UTSW |
18 |
37,890,602 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4871:Pcdhga11
|
UTSW |
18 |
37,890,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Pcdhga11
|
UTSW |
18 |
37,890,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5913:Pcdhga11
|
UTSW |
18 |
37,891,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5913:Pcdhga11
|
UTSW |
18 |
37,889,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Pcdhga11
|
UTSW |
18 |
37,890,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Pcdhga11
|
UTSW |
18 |
37,889,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Pcdhga11
|
UTSW |
18 |
37,889,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7434:Pcdhga11
|
UTSW |
18 |
37,891,005 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7502:Pcdhga11
|
UTSW |
18 |
37,889,554 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7660:Pcdhga11
|
UTSW |
18 |
37,890,183 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7731:Pcdhga11
|
UTSW |
18 |
37,889,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7995:Pcdhga11
|
UTSW |
18 |
37,890,078 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Pcdhga11
|
UTSW |
18 |
37,890,364 (GRCm39) |
nonsense |
probably null |
|
|
R9722:Pcdhga11
|
UTSW |
18 |
37,890,398 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Pcdhga11
|
UTSW |
18 |
37,889,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Pcdhga11
|
UTSW |
18 |
37,889,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdhga11
|
UTSW |
18 |
37,889,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGATGGACAAAGATGC -3'
(R):5'- TTCCTTGAGTCTGCAGTGAGC -3'
Sequencing Primer
(F):5'- CTCTCAAACAGAGTCTCGTGG -3'
(R):5'- CGAAACTTCGTGGGAATACGTCTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation