Incidental Mutation 'R4871:Pcdhga11'
| ID |
376632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga11
|
| Ensembl Gene |
ENSMUSG00000102742 |
| Gene Name |
protocadherin gamma subfamily A, 11 |
| Synonyms |
|
| MMRRC Submission |
042481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4871 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37888826-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37890459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 489
(Y489C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058362
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000194544]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000192931]
[ENSMUST00000192535]
[ENSMUST00000193404]
[ENSMUST00000194928]
[ENSMUST00000193869]
[ENSMUST00000192511]
[ENSMUST00000208907]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000195363]
[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 damaging
Transcript: ENSMUST00000061279
AA Change: Y489C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
AA Change: Y489C
| 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: ENSMUST00000192805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180931
|
| 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: 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: 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: 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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: 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: ENSMUST00000208907
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9614 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
93% (99/107) |
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,457,078 (GRCm39) |
T270A |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,681,241 (GRCm39) |
|
probably benign |
Het |
| Aldh1b1 |
A |
T |
4: 45,803,383 (GRCm39) |
D307V |
probably benign |
Het |
| Aldh3a2 |
A |
T |
11: 61,153,065 (GRCm39) |
C220* |
probably null |
Het |
| Ank2 |
T |
C |
3: 126,753,444 (GRCm39) |
Y279C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,210,351 (GRCm39) |
Y444H |
probably benign |
Het |
| Asph |
G |
T |
4: 9,531,968 (GRCm39) |
T383K |
probably benign |
Het |
| Asphd1 |
G |
T |
7: 126,547,747 (GRCm39) |
S185R |
possibly damaging |
Het |
| Bcl2a1d |
T |
A |
9: 88,613,748 (GRCm39) |
I9F |
probably damaging |
Het |
| Bcl2l11 |
T |
C |
2: 127,970,961 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
G |
7: 100,062,581 (GRCm39) |
S656A |
possibly damaging |
Het |
| Cd5l |
T |
C |
3: 87,274,929 (GRCm39) |
V156A |
probably damaging |
Het |
| Cdh8 |
G |
C |
8: 99,757,536 (GRCm39) |
N687K |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,352,232 (GRCm39) |
D338G |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,390,728 (GRCm39) |
C1035R |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,384,776 (GRCm39) |
R1845G |
probably benign |
Het |
| Cep295nl |
G |
T |
11: 118,224,650 (GRCm39) |
Q65K |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,262,300 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
T |
C |
7: 19,324,173 (GRCm39) |
D234G |
possibly damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,832,340 (GRCm39) |
V150A |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,819,252 (GRCm39) |
E120G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,120,604 (GRCm39) |
S74P |
probably benign |
Het |
| Dnttip2 |
C |
A |
3: 122,078,750 (GRCm39) |
A743E |
probably damaging |
Het |
| Dysf |
A |
T |
6: 84,044,005 (GRCm39) |
Q281L |
possibly damaging |
Het |
| Ece2 |
A |
G |
16: 20,462,905 (GRCm39) |
E610G |
probably damaging |
Het |
| Edem3 |
T |
G |
1: 151,679,982 (GRCm39) |
|
probably null |
Het |
| Ext1 |
G |
T |
15: 52,955,773 (GRCm39) |
N441K |
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,942,969 (GRCm39) |
R333G |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,945,754 (GRCm39) |
T1549I |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 4,005,394 (GRCm39) |
V162A |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,592,223 (GRCm39) |
H385R |
possibly damaging |
Het |
| Garnl3 |
A |
T |
2: 32,977,100 (GRCm39) |
M1K |
probably null |
Het |
| Gm37267 |
T |
G |
1: 180,338,083 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbar1 |
C |
T |
1: 74,318,702 (GRCm39) |
A315V |
probably damaging |
Het |
| Grm2 |
T |
C |
9: 106,524,844 (GRCm39) |
I624V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,468,836 (GRCm39) |
I5042V |
probably benign |
Het |
| Hnf4g |
T |
C |
3: 3,716,448 (GRCm39) |
Y291H |
possibly damaging |
Het |
| Ighm |
A |
G |
12: 113,385,241 (GRCm39) |
S240P |
unknown |
Het |
| Igkv4-91 |
A |
G |
6: 68,745,604 (GRCm39) |
I98T |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,694,469 (GRCm39) |
N142S |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,569,830 (GRCm39) |
Y371N |
possibly damaging |
Het |
| Ly9 |
G |
T |
1: 171,434,898 (GRCm39) |
|
probably benign |
Het |
| Man1a2 |
C |
A |
3: 100,524,372 (GRCm39) |
V359F |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,647,287 (GRCm39) |
I623M |
probably damaging |
Het |
| Mb |
A |
G |
15: 76,906,687 (GRCm39) |
|
probably null |
Het |
| Mcm4 |
A |
C |
16: 15,452,374 (GRCm39) |
L113* |
probably null |
Het |
| Mcub |
C |
T |
3: 129,710,685 (GRCm39) |
W249* |
probably null |
Het |
| Mme |
T |
A |
3: 63,247,453 (GRCm39) |
V246E |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrpl38 |
A |
G |
11: 116,025,098 (GRCm39) |
Y232H |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,455,420 (GRCm39) |
M89K |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,796,536 (GRCm39) |
S892G |
possibly damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,652,941 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,095 (GRCm39) |
T73S |
probably benign |
Het |
| Or12d14-ps1 |
A |
T |
17: 37,673,337 (GRCm39) |
I107L |
probably benign |
Het |
| Or14a259 |
A |
T |
7: 86,012,692 (GRCm39) |
N284K |
probably damaging |
Het |
| Or5m12 |
T |
A |
2: 85,734,715 (GRCm39) |
I228F |
probably benign |
Het |
| Or8b36 |
G |
T |
9: 37,937,822 (GRCm39) |
C240F |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,286,153 (GRCm39) |
I154N |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,002,815 (GRCm39) |
|
probably benign |
Het |
| Pcdhga10 |
T |
C |
18: 37,881,253 (GRCm39) |
V338A |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,261,237 (GRCm39) |
Y244H |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,105,759 (GRCm39) |
S102R |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,471,636 (GRCm39) |
Y20C |
probably damaging |
Het |
| Rdh19 |
A |
G |
10: 127,696,013 (GRCm39) |
D255G |
probably benign |
Het |
| Rgs3 |
T |
C |
4: 62,549,532 (GRCm39) |
V438A |
probably benign |
Het |
| Rnf186 |
A |
G |
4: 138,695,254 (GRCm39) |
T265A |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,283,195 (GRCm39) |
F420S |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,841,463 (GRCm39) |
K204E |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,324,874 (GRCm39) |
T527A |
probably benign |
Het |
| Samd4 |
T |
C |
14: 47,303,920 (GRCm39) |
S301P |
probably damaging |
Het |
| Scaf1 |
G |
A |
7: 44,655,303 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,217,210 (GRCm39) |
V1034A |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,778,099 (GRCm39) |
D743G |
probably damaging |
Het |
| Stim1 |
A |
T |
7: 102,003,779 (GRCm39) |
I71F |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,796,693 (GRCm39) |
D358G |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,611,765 (GRCm39) |
Y551H |
probably damaging |
Het |
| Tas2r110 |
A |
T |
6: 132,845,091 (GRCm39) |
T41S |
probably benign |
Het |
| Tead3 |
T |
A |
17: 28,552,589 (GRCm39) |
E268V |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,553,962 (GRCm39) |
S131P |
probably benign |
Het |
| Tepsin |
A |
T |
11: 119,982,351 (GRCm39) |
M505K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,668 (GRCm39) |
Y66C |
possibly damaging |
Het |
| Ttc6 |
A |
G |
12: 57,749,142 (GRCm39) |
Q1358R |
probably damaging |
Het |
| Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,753,283 (GRCm39) |
V76A |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,663,425 (GRCm39) |
T2789S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,801,089 (GRCm39) |
F136L |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
A |
T |
5: 6,926,479 (GRCm39) |
D51E |
probably damaging |
Het |
| Zfyve9 |
C |
T |
4: 108,538,183 (GRCm39) |
G969R |
probably damaging |
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 |
|
R4945:Pcdhga11
|
UTSW |
18 |
37,891,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AAAGATCAGGGCAGTCCACC -3'
(R):5'- TGTCATTCTGGTCCAGCAC -3'
Sequencing Primer
(F):5'- GCAGTCCACCGTTGTCTACAG -3'
(R):5'- GTCATTCTGGTCCAGCACGAAAAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation