Incidental Mutation 'R7984:Pcdhga3'
| ID |
651400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhga3
|
| Ensembl Gene |
ENSMUSG00000104346 |
| Gene Name |
protocadherin gamma subfamily A, 3 |
| Synonyms |
|
| MMRRC Submission |
046025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37807388-37974926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37809549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 667
(D667E)
|
| 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: D667E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
AA Change: D667E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| 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 |
|---|
| Akr1e1 |
G |
T |
13: 4,645,679 (GRCm39) |
H226N |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,686,764 (GRCm39) |
D283G |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,767,068 (GRCm39) |
D436G |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,578,982 (GRCm39) |
R314Q |
probably damaging |
Het |
| Apbb2 |
T |
C |
5: 66,465,035 (GRCm39) |
E629G |
probably damaging |
Het |
| Card9 |
T |
G |
2: 26,246,784 (GRCm39) |
I355L |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,598 (GRCm39) |
P1158S |
probably benign |
Het |
| Cpne7 |
T |
G |
8: 123,846,461 (GRCm39) |
V91G |
possibly damaging |
Het |
| Dlc1 |
T |
A |
8: 37,405,472 (GRCm39) |
T106S |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,989,772 (GRCm39) |
F3248Y |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,377 (GRCm39) |
D2264E |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,877,303 (GRCm39) |
N1078K |
unknown |
Het |
| Emc1 |
T |
A |
4: 139,102,760 (GRCm39) |
L973H |
probably damaging |
Het |
| Fer1l5 |
T |
A |
1: 36,447,702 (GRCm39) |
L955Q |
possibly damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,333,671 (GRCm39) |
N273S |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,588 (GRCm39) |
Y137N |
probably damaging |
Het |
| Grik4 |
G |
A |
9: 42,582,557 (GRCm39) |
Q130* |
probably null |
Het |
| Hcn1 |
C |
T |
13: 118,112,609 (GRCm39) |
Q858* |
probably null |
Het |
| Heg1 |
A |
C |
16: 33,583,945 (GRCm39) |
S76R |
possibly damaging |
Het |
| Ikbke |
T |
A |
1: 131,203,523 (GRCm39) |
E50V |
probably null |
Het |
| Itga5 |
G |
A |
15: 103,264,379 (GRCm39) |
P297S |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,406 (GRCm39) |
R480L |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,956,752 (GRCm39) |
E1236* |
probably null |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,662,342 (GRCm39) |
F894L |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,950,477 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
G |
7: 80,003,056 (GRCm39) |
T1018P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,937 (GRCm39) |
Q772R |
possibly damaging |
Het |
| Meioc |
T |
A |
11: 102,565,432 (GRCm39) |
N293K |
possibly damaging |
Het |
| Mrps24 |
A |
T |
11: 5,657,495 (GRCm39) |
C34S |
possibly damaging |
Het |
| Nek1 |
G |
T |
8: 61,574,087 (GRCm39) |
E1112* |
probably null |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,775 (GRCm39) |
S317G |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,997,151 (GRCm39) |
Q1492K |
possibly damaging |
Het |
| Or2a57 |
T |
G |
6: 43,212,730 (GRCm39) |
S63A |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,705,639 (GRCm39) |
F62S |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,941 (GRCm39) |
F69L |
probably benign |
Het |
| Or8b36 |
A |
G |
9: 37,937,155 (GRCm39) |
T18A |
probably damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,969 (GRCm39) |
N42I |
probably damaging |
Het |
| Or9s23 |
A |
G |
1: 92,501,144 (GRCm39) |
I84V |
probably benign |
Het |
| P2ry12 |
T |
A |
3: 59,125,022 (GRCm39) |
I218F |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,566,698 (GRCm39) |
Q11* |
probably null |
Het |
| Pcnx2 |
T |
G |
8: 126,485,865 (GRCm39) |
E1911A |
probably benign |
Het |
| Pibf1 |
T |
C |
14: 99,459,063 (GRCm39) |
L678P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
| Prl2c1 |
G |
A |
13: 28,039,310 (GRCm39) |
|
probably null |
Het |
| Rnf112 |
A |
G |
11: 61,340,306 (GRCm39) |
V656A |
possibly damaging |
Het |
| Siglecf |
A |
C |
7: 43,004,655 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,856,811 (GRCm39) |
L32* |
probably null |
Het |
| Slc7a1 |
A |
G |
5: 148,278,920 (GRCm39) |
V284A |
possibly damaging |
Het |
| Slco5a1 |
T |
A |
1: 12,951,608 (GRCm39) |
H565L |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,333,465 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,929,497 (GRCm39) |
T255A |
probably benign |
Het |
| Tmem130 |
C |
T |
5: 144,692,237 (GRCm39) |
G56R |
possibly damaging |
Het |
| Trmt1l |
A |
C |
1: 151,311,489 (GRCm39) |
Q116H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,554,094 (GRCm39) |
W30870R |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,173,973 (GRCm39) |
L1600F |
unknown |
Het |
| Vmn1r233 |
C |
T |
17: 21,214,417 (GRCm39) |
V178M |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,526 (GRCm39) |
P656L |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,566,862 (GRCm39) |
D83E |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,880,059 (GRCm39) |
V3045I |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,976,983 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
A |
G |
7: 125,719,616 (GRCm39) |
V591A |
probably benign |
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 |
|
R7174:Pcdhga3
|
UTSW |
18 |
37,808,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- TGGTGGCAGTAGACAAAGACTC -3'
(R):5'- CCAATCCATTTCCTGAAGCCTG -3'
Sequencing Primer
(F):5'- AGAACGCCTGGCTGTCCTAC -3'
(R):5'- CCTGTAGGCGTGATGAGTACCAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation