Incidental Mutation 'R8897:Pcdhga6'
| ID |
678139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga6
|
| Ensembl Gene |
ENSMUSG00000103793 |
| Gene Name |
protocadherin gamma subfamily A, 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R8897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37840154-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37841642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 454
(R454L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000195823]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000195112]
|
| 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 |
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: 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: ENSMUST00000195823
AA Change: R454L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
AA Change: R454L
| 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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,934 (GRCm39) |
L329Q |
probably damaging |
Het |
| Adam26b |
A |
T |
8: 43,974,009 (GRCm39) |
M331K |
possibly damaging |
Het |
| Ak3 |
T |
C |
19: 29,025,118 (GRCm39) |
S38G |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,665,788 (GRCm39) |
C271S |
possibly damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,494 (GRCm39) |
Y66H |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,729,065 (GRCm39) |
I736L |
probably benign |
Het |
| Arpp19 |
T |
A |
9: 74,963,948 (GRCm39) |
M67K |
possibly damaging |
Het |
| Brf1 |
T |
G |
12: 112,951,589 (GRCm39) |
H130P |
probably damaging |
Het |
| Cacna1s |
C |
G |
1: 136,045,392 (GRCm39) |
T1680S |
probably benign |
Het |
| Cckar |
C |
T |
5: 53,864,583 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,532 (GRCm39) |
K605E |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,867,566 (GRCm39) |
M1409T |
unknown |
Het |
| Ces1h |
C |
T |
8: 94,080,093 (GRCm39) |
V474I |
unknown |
Het |
| Cfap70 |
A |
T |
14: 20,493,669 (GRCm39) |
|
probably null |
Het |
| Ch25h |
G |
A |
19: 34,452,441 (GRCm39) |
T29I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 48,222,739 (GRCm39) |
T329S |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,315,623 (GRCm39) |
N1139S |
probably damaging |
Het |
| Cyp2j6 |
G |
T |
4: 96,414,087 (GRCm39) |
H393N |
probably benign |
Het |
| Cyp8b1 |
C |
A |
9: 121,745,358 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
T |
G |
3: 83,036,720 (GRCm39) |
L489R |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,110,098 (GRCm39) |
T1173A |
probably benign |
Het |
| Exoc3l2 |
T |
G |
7: 19,203,931 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
G |
A |
13: 68,732,303 (GRCm39) |
R208H |
probably damaging |
Het |
| Fbxo16 |
C |
A |
14: 65,531,287 (GRCm39) |
R64S |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,339,419 (GRCm39) |
I571F |
probably damaging |
Het |
| Ftsj3 |
T |
A |
11: 106,144,602 (GRCm39) |
D129V |
probably damaging |
Het |
| Gm6370 |
A |
G |
5: 146,430,447 (GRCm39) |
T211A |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,116 (GRCm39) |
S220T |
probably benign |
Het |
| Gsta3 |
T |
C |
1: 21,330,370 (GRCm39) |
I124T |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,316,112 (GRCm39) |
I4335V |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,857,809 (GRCm39) |
I279V |
probably benign |
Het |
| Ighv1-13 |
T |
A |
12: 114,594,439 (GRCm39) |
M47K |
unknown |
Het |
| Il22ra2 |
A |
G |
10: 19,507,401 (GRCm39) |
N138S |
probably damaging |
Het |
| Impact |
A |
G |
18: 13,123,551 (GRCm39) |
D298G |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,225,437 (GRCm39) |
N198D |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,279 (GRCm39) |
T327A |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,649,233 (GRCm39) |
N878S |
probably damaging |
Het |
| Lpxn |
T |
A |
19: 12,802,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Lrriq4 |
C |
A |
3: 30,709,807 (GRCm39) |
L384I |
probably damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,026,119 (GRCm39) |
I629S |
probably benign |
Het |
| Lypd5 |
T |
C |
7: 24,051,015 (GRCm39) |
V42A |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,304 (GRCm39) |
S270P |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,311 (GRCm39) |
M1L |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,137,362 (GRCm39) |
E528K |
possibly damaging |
Het |
| Nes |
T |
A |
3: 87,886,653 (GRCm39) |
H1637Q |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,576 (GRCm39) |
D165G |
probably benign |
Het |
| Or5g25 |
A |
T |
2: 85,478,187 (GRCm39) |
H159Q |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,387,472 (GRCm39) |
M147T |
probably benign |
Het |
| Pdss2 |
A |
G |
10: 43,221,663 (GRCm39) |
S192G |
probably damaging |
Het |
| Pld6 |
A |
T |
11: 59,678,382 (GRCm39) |
M27K |
probably benign |
Het |
| Plec |
C |
T |
15: 76,057,598 (GRCm39) |
R4113H |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,467,953 (GRCm39) |
S1379P |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,019,566 (GRCm39) |
H35R |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,453,100 (GRCm39) |
T75A |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,437 (GRCm39) |
L1172P |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,123 (GRCm39) |
S771L |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,585,998 (GRCm39) |
I331T |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,546,002 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,354,467 (GRCm39) |
V241D |
probably benign |
Het |
| Sez6l |
C |
A |
5: 112,588,744 (GRCm39) |
Q656H |
possibly damaging |
Het |
| Sh3gl2 |
A |
T |
4: 85,273,597 (GRCm39) |
I50L |
probably benign |
Het |
| Tab2 |
T |
C |
10: 7,786,897 (GRCm39) |
D605G |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,374 (GRCm39) |
V135D |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,364,534 (GRCm39) |
M234T |
probably benign |
Het |
| Trhr |
C |
A |
15: 44,060,736 (GRCm39) |
D85E |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,552,718 (GRCm39) |
I607V |
probably benign |
Het |
| Trpm4 |
C |
T |
7: 44,960,055 (GRCm39) |
C760Y |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,844,841 (GRCm39) |
V403A |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,817 (GRCm39) |
Y180H |
probably damaging |
Het |
| Unc119b |
C |
T |
5: 115,272,977 (GRCm39) |
|
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,381,242 (GRCm39) |
D217V |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,767 (GRCm39) |
R268* |
probably null |
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 |
|
R5594:Pcdhga6
|
UTSW |
18 |
37,841,581 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
|
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'- GCTCCATATCAGAAAGTCTCCC -3'
(R):5'- AGTGCATACAGGACACCAGTG -3'
Sequencing Primer
(F):5'- GTCTCCCATTTAAATTGGAAGAGTC -3'
(R):5'- CACCAGTGATGGAGTTGATGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation