Incidental Mutation 'R7174:Pcdhga3'
| ID |
558522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga3
|
| Ensembl Gene |
ENSMUSG00000104346 |
| Gene Name |
protocadherin gamma subfamily A, 3 |
| Synonyms |
|
| MMRRC Submission |
045266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37807388-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37808980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 478
(T478A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000192931]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
AA Change: T478A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: T478A
| 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: 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: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
97% (61/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
A |
5: 144,981,627 (GRCm39) |
A154E |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,596,060 (GRCm39) |
A419S |
probably benign |
Het |
| Arap2 |
C |
G |
5: 62,761,621 (GRCm39) |
V1702L |
probably benign |
Het |
| Arpc1a |
C |
T |
5: 145,034,087 (GRCm39) |
P152S |
probably benign |
Het |
| Bbs10 |
T |
A |
10: 111,136,628 (GRCm39) |
C580* |
probably null |
Het |
| Bcam |
A |
G |
7: 19,499,376 (GRCm39) |
Y216H |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,081,405 (GRCm39) |
S1016P |
|
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,839 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,446,264 (GRCm39) |
V666A |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,142,305 (GRCm39) |
F1021L |
probably benign |
Het |
| Cr1l |
C |
T |
1: 194,811,497 (GRCm39) |
G119D |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,851,942 (GRCm39) |
H8L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,903,436 (GRCm39) |
|
probably null |
Het |
| Frem1 |
G |
T |
4: 82,840,493 (GRCm39) |
T1811N |
probably benign |
Het |
| Fsd1 |
A |
T |
17: 56,298,356 (GRCm39) |
Q227L |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,738,621 (GRCm39) |
I138M |
probably damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,582 (GRCm39) |
V7A |
possibly damaging |
Het |
| Katnb1 |
G |
A |
8: 95,824,069 (GRCm39) |
A450T |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,448,995 (GRCm39) |
E1465V |
possibly damaging |
Het |
| Klra3 |
A |
T |
6: 130,312,941 (GRCm39) |
|
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
G |
4: 101,607,535 (GRCm39) |
N251S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,263,416 (GRCm39) |
M4379V |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,060,826 (GRCm39) |
N92S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,745,006 (GRCm39) |
N855S |
probably damaging |
Het |
| Marf1 |
T |
A |
16: 13,954,817 (GRCm39) |
D900V |
probably damaging |
Het |
| Nckap5l |
A |
T |
15: 99,321,884 (GRCm39) |
M1087K |
probably benign |
Het |
| Nlrp9c |
T |
C |
7: 26,084,722 (GRCm39) |
N286D |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,047,076 (GRCm39) |
*321Q |
probably null |
Het |
| Or13c7d |
C |
T |
4: 43,770,691 (GRCm39) |
A107T |
not run |
Het |
| Or4k2 |
T |
C |
14: 50,424,153 (GRCm39) |
I175V |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,598 (GRCm39) |
R305* |
probably null |
Het |
| Or5g9 |
C |
T |
2: 85,552,297 (GRCm39) |
P183S |
possibly damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,367 (GRCm39) |
S196R |
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,199,587 (GRCm39) |
I385T |
probably benign |
Het |
| Poteg |
C |
T |
8: 27,943,305 (GRCm39) |
R192W |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,173 (GRCm39) |
D104E |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,090 (GRCm39) |
N190S |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,816,063 (GRCm39) |
D641G |
possibly damaging |
Het |
| Sh3gl1 |
A |
T |
17: 56,324,846 (GRCm39) |
M303K |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,018,892 (GRCm39) |
V649A |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,765,323 (GRCm39) |
N376D |
possibly damaging |
Het |
| Socs3 |
A |
T |
11: 117,858,553 (GRCm39) |
Y168* |
probably null |
Het |
| Spata31d1d |
A |
T |
13: 59,876,394 (GRCm39) |
N380K |
possibly damaging |
Het |
| Speer1c |
T |
C |
5: 10,295,237 (GRCm39) |
K56E |
probably damaging |
Het |
| Ssbp3 |
A |
G |
4: 106,894,843 (GRCm39) |
N254S |
probably benign |
Het |
| Stard10 |
C |
T |
7: 100,995,226 (GRCm39) |
S326L |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,912,135 (GRCm39) |
D524G |
possibly damaging |
Het |
| Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
| Tchh |
C |
T |
3: 93,353,478 (GRCm39) |
R973C |
unknown |
Het |
| Tmem67 |
T |
C |
4: 12,077,337 (GRCm39) |
R172G |
possibly damaging |
Het |
| Top2a |
C |
A |
11: 98,914,922 (GRCm39) |
|
probably benign |
Het |
| Ttc8 |
T |
A |
12: 98,940,960 (GRCm39) |
N323K |
possibly damaging |
Het |
| Txnl1 |
T |
C |
18: 63,804,667 (GRCm39) |
N276D |
probably benign |
Het |
| Usp24 |
T |
G |
4: 106,219,878 (GRCm39) |
|
probably null |
Het |
| Vmn1r18 |
A |
C |
6: 57,366,609 (GRCm39) |
|
probably null |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,628 (GRCm39) |
H730Q |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,947,939 (GRCm39) |
I500M |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,744,423 (GRCm39) |
Y451N |
probably damaging |
Het |
| Zfp683 |
T |
A |
4: 133,783,064 (GRCm39) |
I176N |
probably damaging |
Het |
|
| Other mutations in Pcdhga3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Pcdhga3
|
APN |
18 |
37,808,486 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2863:Pcdhga3
|
UTSW |
18 |
37,807,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4446:Pcdhga3
|
UTSW |
18 |
37,808,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4581:Pcdhga3
|
UTSW |
18 |
37,809,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4747:Pcdhga3
|
UTSW |
18 |
37,809,799 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4964:Pcdhga3
|
UTSW |
18 |
37,809,154 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5165:Pcdhga3
|
UTSW |
18 |
37,808,723 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5210:Pcdhga3
|
UTSW |
18 |
37,808,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5370:Pcdhga3
|
UTSW |
18 |
37,808,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Pcdhga3
|
UTSW |
18 |
37,808,747 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5610:Pcdhga3
|
UTSW |
18 |
37,808,276 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5782:Pcdhga3
|
UTSW |
18 |
37,809,353 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5889:Pcdhga3
|
UTSW |
18 |
37,809,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Pcdhga3
|
UTSW |
18 |
37,808,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Pcdhga3
|
UTSW |
18 |
37,807,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6307:Pcdhga3
|
UTSW |
18 |
37,809,674 (GRCm39) |
unclassified |
probably benign |
|
|
R6893:Pcdhga3
|
UTSW |
18 |
37,809,598 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7013:Pcdhga3
|
UTSW |
18 |
37,808,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Pcdhga3
|
UTSW |
18 |
37,808,917 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7492:Pcdhga3
|
UTSW |
18 |
37,809,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7509:Pcdhga3
|
UTSW |
18 |
37,808,910 (GRCm39) |
nonsense |
probably null |
|
|
R7914:Pcdhga3
|
UTSW |
18 |
37,808,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7984:Pcdhga3
|
UTSW |
18 |
37,809,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8782:Pcdhga3
|
UTSW |
18 |
37,807,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Pcdhga3
|
UTSW |
18 |
37,809,229 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9169:Pcdhga3
|
UTSW |
18 |
37,809,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Pcdhga3
|
UTSW |
18 |
37,808,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Pcdhga3
|
UTSW |
18 |
37,808,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Pcdhga3
|
UTSW |
18 |
37,808,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9767:Pcdhga3
|
UTSW |
18 |
37,808,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9778:Pcdhga3
|
UTSW |
18 |
37,807,786 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1177:Pcdhga3
|
UTSW |
18 |
37,809,674 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTCTAAGAGCCACGGATG -3'
(R):5'- GCACAAATAGGTTCAGTGTTGTG -3'
Sequencing Primer
(F):5'- CACGGATGGGGGAAGTCCAC -3'
(R):5'- GGAGGGGTCCCACTGTCTCTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation