Incidental Mutation 'R9767:Pcdhga3'
ID |
733353 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdhga3
|
Ensembl Gene |
ENSMUSG00000104346 |
Gene Name |
protocadherin gamma subfamily A, 3 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R9767 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37807388-37974926 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37808096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 183
(I183N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073447]
[ENSMUST00000115661]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194544]
|
AlphaFold |
Q91XY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
AA Change: I183N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000073150 Gene: ENSMUSG00000104346 AA Change: I183N
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
|
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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
Eif2s2 |
A |
T |
2: 154,730,125 (GRCm39) |
D57E |
probably benign |
Het |
Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
Glis1 |
A |
T |
4: 107,491,794 (GRCm39) |
T741S |
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,818,297 (GRCm39) |
Y331C |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
Tex9 |
C |
A |
9: 72,368,518 (GRCm39) |
E377* |
probably null |
Het |
Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
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 |
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 |
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'- TTGAGGTAGAAGTTGACATTAGCG -3'
(R):5'- ACTGACATGGTACTCTGGCTTG -3'
Sequencing Primer
(F):5'- AGTTCCTGGAACCCGATT -3'
(R):5'- CATGGTACTCTGGCTTGGTAAACAC -3'
|
Posted On |
2022-11-14 |