Incidental Mutation 'R5230:Pcdhga2'
| ID |
403748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga2
|
| Ensembl Gene |
ENSMUSG00000103332 |
| Gene Name |
protocadherin gamma subfamily A, 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37802006-37974923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37802795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
[ENSMUST00000194888]
|
| AlphaFold |
Q91XY6 |
| 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: ENSMUST00000193869
AA Change: V213A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
AA Change: V213A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194888
|
| SMART Domains |
Protein: ENSMUSP00000141367
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
1.6e-4 |
SMART |
|
CA
|
155 |
240 |
2.7e-18 |
SMART |
|
CA
|
264 |
345 |
3.3e-28 |
SMART |
|
CA
|
369 |
450 |
6.7e-27 |
SMART |
|
CA
|
474 |
560 |
2e-24 |
SMART |
|
CA
|
591 |
669 |
2.2e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,210,686 (GRCm39) |
D164E |
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,666,956 (GRCm39) |
D512G |
probably damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,617,216 (GRCm39) |
T2191I |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,986,171 (GRCm39) |
F270S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,770 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
T |
C |
6: 83,084,777 (GRCm39) |
V591A |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,716,776 (GRCm39) |
E1613K |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,975,492 (GRCm39) |
H1519L |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,673 (GRCm39) |
D498G |
possibly damaging |
Het |
| Enah |
A |
C |
1: 181,763,235 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,901,856 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gm4846 |
T |
A |
1: 166,317,748 (GRCm39) |
N223Y |
probably benign |
Het |
| Gm8104 |
A |
G |
14: 42,958,975 (GRCm39) |
N55S |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,404 (GRCm39) |
S1045P |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,781,251 (GRCm39) |
M275T |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,235,006 (GRCm39) |
T385S |
unknown |
Het |
| Ipo9 |
G |
A |
1: 135,347,808 (GRCm39) |
S78L |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,099,411 (GRCm39) |
V1473M |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,052,078 (GRCm39) |
Y345* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,775 (GRCm39) |
T105A |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,922,599 (GRCm39) |
S441P |
probably benign |
Het |
| Med12l |
C |
T |
3: 59,153,209 (GRCm39) |
T1078I |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,801,026 (GRCm39) |
M242K |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,226 (GRCm39) |
Y849H |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,004 (GRCm39) |
V1003E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,393,674 (GRCm39) |
M1135K |
possibly damaging |
Het |
| Nckap1l |
A |
T |
15: 103,392,066 (GRCm39) |
I834F |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,507 (GRCm39) |
Y503F |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,734 (GRCm39) |
I104N |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,390,119 (GRCm39) |
M826K |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,176 (GRCm39) |
Q57R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,618,157 (GRCm39) |
T219A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,248 (GRCm39) |
N263K |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,667,316 (GRCm39) |
I791L |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,092,776 (GRCm39) |
C159R |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,824,315 (GRCm39) |
L859Q |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,306,239 (GRCm39) |
R63L |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,361,779 (GRCm39) |
E252G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,608 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tpk1 |
A |
G |
6: 43,400,653 (GRCm39) |
L172P |
probably damaging |
Het |
| Trim3 |
T |
G |
7: 105,268,720 (GRCm39) |
N78T |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,289,312 (GRCm39) |
V88A |
probably benign |
Het |
| Vmn1r222 |
T |
G |
13: 23,417,172 (GRCm39) |
M14L |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,074,277 (GRCm39) |
V678E |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,340 (GRCm39) |
L1543P |
unknown |
Het |
|
| Other mutations in Pcdhga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4132:Pcdhga2
|
UTSW |
18 |
37,803,107 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4577:Pcdhga2
|
UTSW |
18 |
37,802,302 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4792:Pcdhga2
|
UTSW |
18 |
37,802,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4904:Pcdhga2
|
UTSW |
18 |
37,802,932 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4982:Pcdhga2
|
UTSW |
18 |
37,802,476 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5502:Pcdhga2
|
UTSW |
18 |
37,803,605 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6112:Pcdhga2
|
UTSW |
18 |
37,802,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6344:Pcdhga2
|
UTSW |
18 |
37,803,815 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6362:Pcdhga2
|
UTSW |
18 |
37,803,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Pcdhga2
|
UTSW |
18 |
37,803,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Pcdhga2
|
UTSW |
18 |
37,803,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6927:Pcdhga2
|
UTSW |
18 |
37,803,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Pcdhga2
|
UTSW |
18 |
37,802,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Pcdhga2
|
UTSW |
18 |
37,803,461 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7657:Pcdhga2
|
UTSW |
18 |
37,803,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Pcdhga2
|
UTSW |
18 |
37,804,496 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7720:Pcdhga2
|
UTSW |
18 |
37,802,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Pcdhga2
|
UTSW |
18 |
37,803,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Pcdhga2
|
UTSW |
18 |
37,803,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Pcdhga2
|
UTSW |
18 |
37,802,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8744:Pcdhga2
|
UTSW |
18 |
37,804,373 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9043:Pcdhga2
|
UTSW |
18 |
37,802,963 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9189:Pcdhga2
|
UTSW |
18 |
37,802,795 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9197:Pcdhga2
|
UTSW |
18 |
37,804,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9404:Pcdhga2
|
UTSW |
18 |
37,803,067 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pcdhga2
|
UTSW |
18 |
37,803,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTAAGAGTGCACATGATGCG -3'
(R):5'- AGTTTCTCCAGGGTCATGCTC -3'
Sequencing Primer
(F):5'- GCACATGATGCGGACGTTG -3'
(R):5'- CAGGGTCATGCTCCTGAAAATAAGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation