Incidental Mutation 'R5594:Pcdhga6'
| ID |
437741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| MMRRC Submission |
043146-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37841581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 434
(T434S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000195823]
[ENSMUST00000195112]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000194418]
|
| AlphaFold |
Q91XY2 |
| 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: 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: ENSMUST00000157868
|
| 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: 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: 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: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
AA Change: T434S
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: T434S
| 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.2501 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
T |
11: 3,888,027 (GRCm39) |
V120I |
unknown |
Het |
| 4931414P19Rik |
A |
G |
14: 54,822,441 (GRCm39) |
Y399H |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,035,688 (GRCm39) |
P644Q |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,412,946 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,062,880 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
T |
C |
9: 65,409,523 (GRCm39) |
N471S |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,000 (GRCm39) |
T1345A |
probably benign |
Het |
| Arhgef40 |
T |
A |
14: 52,233,614 (GRCm39) |
L820H |
probably damaging |
Het |
| Atp2b4 |
A |
G |
1: 133,658,248 (GRCm39) |
V554A |
probably damaging |
Het |
| Birc7 |
G |
A |
2: 180,575,129 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
C |
T |
16: 44,936,626 (GRCm39) |
R684C |
probably benign |
Het |
| Cdc25b |
C |
A |
2: 131,033,538 (GRCm39) |
P159Q |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,841,252 (GRCm39) |
D647E |
probably benign |
Het |
| Chek2 |
G |
T |
5: 111,003,700 (GRCm39) |
|
probably null |
Het |
| Chil6 |
C |
T |
3: 106,301,745 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,839,498 (GRCm39) |
I643T |
probably damaging |
Het |
| Cwf19l2 |
C |
A |
9: 3,418,773 (GRCm39) |
Q187K |
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,491,275 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,058,834 (GRCm39) |
T268A |
possibly damaging |
Het |
| Dnah17 |
G |
T |
11: 117,934,055 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,570,844 (GRCm39) |
Y2210C |
possibly damaging |
Het |
| Elmod3 |
G |
A |
6: 72,571,799 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,092,996 (GRCm39) |
T394S |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,968,317 (GRCm39) |
V182A |
possibly damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,223 (GRCm39) |
I315T |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,728,629 (GRCm39) |
N76S |
probably damaging |
Het |
| Gcc2 |
G |
T |
10: 58,123,064 (GRCm39) |
R1190M |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
| Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
| Gm11543 |
T |
A |
11: 94,719,380 (GRCm39) |
|
noncoding transcript |
Het |
| Hhip |
G |
T |
8: 80,723,492 (GRCm39) |
D387E |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,984,566 (GRCm39) |
Y46* |
probably null |
Het |
| Hivep3 |
G |
T |
4: 119,980,245 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
A |
13: 46,906,338 (GRCm39) |
E535V |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,734,554 (GRCm39) |
Y15H |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,933,982 (GRCm39) |
V3560E |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,593,755 (GRCm39) |
F613L |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,662,977 (GRCm39) |
V465M |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Ms4a6c |
T |
A |
19: 11,455,537 (GRCm39) |
D115E |
probably benign |
Het |
| Msh6 |
A |
G |
17: 88,293,497 (GRCm39) |
T751A |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,101,647 (GRCm39) |
T429S |
probably benign |
Het |
| Oplah |
A |
C |
15: 76,180,837 (GRCm39) |
*1289G |
probably null |
Het |
| Or14j7 |
T |
A |
17: 38,234,502 (GRCm39) |
M15K |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,302 (GRCm39) |
Y60H |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,574,594 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,937,996 (GRCm39) |
I51F |
probably benign |
Het |
| Prrc2c |
C |
A |
1: 162,526,600 (GRCm39) |
V204F |
unknown |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,710 (GRCm39) |
S325P |
probably damaging |
Het |
| Rit1 |
T |
A |
3: 88,636,444 (GRCm39) |
L116Q |
probably damaging |
Het |
| Rpl22 |
T |
A |
4: 152,410,259 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,108,560 (GRCm39) |
E1588G |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,110,735 (GRCm39) |
F577S |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,933,258 (GRCm39) |
D105E |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,489,240 (GRCm39) |
D215V |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,693,768 (GRCm39) |
P438T |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Stk19 |
C |
T |
17: 35,039,538 (GRCm39) |
|
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,725,829 (GRCm39) |
I143T |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,067,339 (GRCm39) |
H2232R |
possibly damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,452 (GRCm39) |
T352A |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,066,579 (GRCm39) |
I358T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,202,863 (GRCm39) |
D392G |
possibly damaging |
Het |
| Vmn1r1 |
G |
A |
1: 181,984,972 (GRCm39) |
P231L |
probably damaging |
Het |
| Zfp330 |
A |
G |
8: 83,493,941 (GRCm39) |
W107R |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,949,116 (GRCm39) |
Q281H |
possibly damaging |
Het |
| Zfp9 |
T |
C |
6: 118,442,000 (GRCm39) |
T221A |
probably damaging |
Het |
| Zgpat |
T |
C |
2: 181,007,420 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pcdhga6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R3551:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3552:Pcdhga6
|
UTSW |
18 |
37,841,270 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3688:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Pcdhga6
|
UTSW |
18 |
37,840,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3832:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Pcdhga6
|
UTSW |
18 |
37,841,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Pcdhga6
|
UTSW |
18 |
37,841,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Pcdhga6
|
UTSW |
18 |
37,840,514 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5887:Pcdhga6
|
UTSW |
18 |
37,841,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Pcdhga6
|
UTSW |
18 |
37,841,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6276:Pcdhga6
|
UTSW |
18 |
37,840,697 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6494:Pcdhga6
|
UTSW |
18 |
37,841,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Pcdhga6
|
UTSW |
18 |
37,842,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Pcdhga6
|
UTSW |
18 |
37,840,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:Pcdhga6
|
UTSW |
18 |
37,842,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7313:Pcdhga6
|
UTSW |
18 |
37,841,072 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7425:Pcdhga6
|
UTSW |
18 |
37,841,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Pcdhga6
|
UTSW |
18 |
37,841,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Pcdhga6
|
UTSW |
18 |
37,842,479 (GRCm39) |
missense |
not run |
|
|
R8257:Pcdhga6
|
UTSW |
18 |
37,841,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8897:Pcdhga6
|
UTSW |
18 |
37,841,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8938:Pcdhga6
|
UTSW |
18 |
37,841,562 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8954:Pcdhga6
|
UTSW |
18 |
37,841,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Pcdhga6
|
UTSW |
18 |
37,840,716 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9009:Pcdhga6
|
UTSW |
18 |
37,841,878 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9101:Pcdhga6
|
UTSW |
18 |
37,841,393 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9265:Pcdhga6
|
UTSW |
18 |
37,841,102 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9377:Pcdhga6
|
UTSW |
18 |
37,841,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9381:Pcdhga6
|
UTSW |
18 |
37,841,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9393:Pcdhga6
|
UTSW |
18 |
37,840,212 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Pcdhga6
|
UTSW |
18 |
37,841,494 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTCAGGGACCGTAATTGCTC -3'
(R):5'- AAGGGTTTCTTTGGCCAGAG -3'
Sequencing Primer
(F):5'- AGGGACCGTAATTGCTCTTTTTCAAG -3'
(R):5'- GGCCAGAGAGTAAATAATTTCTGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation