Incidental Mutation 'R9675:Gad1'
ID |
728286 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gad1
|
Ensembl Gene |
ENSMUSG00000070880 |
Gene Name |
glutamate decarboxylase 1 |
Synonyms |
Gad-1, GAD67, Z49976, GAD44, GAD25, EP10 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9675 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70416200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 220
(V220M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
[ENSMUST00000123330]
[ENSMUST00000130604]
[ENSMUST00000130998]
[ENSMUST00000148210]
|
AlphaFold |
P48318 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094934
AA Change: V220M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092539 Gene: ENSMUSG00000070880 AA Change: V220M
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
517 |
7e-154 |
PFAM |
Pfam:Beta_elim_lyase
|
231 |
375 |
3.2e-6 |
PFAM |
Pfam:Aminotran_5
|
273 |
380 |
2.4e-6 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123330
AA Change: V220M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116301 Gene: ENSMUSG00000070880 AA Change: V220M
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
249 |
6.5e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130604
|
SMART Domains |
Protein: ENSMUSP00000117721 Gene: ENSMUSG00000070880
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
218 |
2.9e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130998
|
SMART Domains |
Protein: ENSMUSP00000119379 Gene: ENSMUSG00000070880
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
218 |
2.9e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148210
|
SMART Domains |
Protein: ENSMUSP00000119733 Gene: ENSMUSG00000070880
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Pyridoxal_deC
|
143 |
218 |
2.9e-18 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the production of gamma-aminobutyric acid from L-glutamic acid. Alternative splicing of this gene results in two products, the predominant 67 kDa isoform and a smaller 25 kDa isoform. The smaller isoform is not thought to retain catalytic activity. [provided by RefSeq, Aug 2015] PHENOTYPE: Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
Other mutations in Gad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01794:Gad1
|
APN |
2 |
70,427,512 (GRCm39) |
missense |
probably benign |
|
IGL01907:Gad1
|
APN |
2 |
70,404,470 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02596:Gad1
|
APN |
2 |
70,425,028 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02654:Gad1
|
APN |
2 |
70,403,125 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02998:Gad1
|
APN |
2 |
70,420,163 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4581001:Gad1
|
UTSW |
2 |
70,430,011 (GRCm39) |
missense |
probably benign |
0.05 |
R0102:Gad1
|
UTSW |
2 |
70,417,583 (GRCm39) |
critical splice donor site |
probably null |
|
R0454:Gad1
|
UTSW |
2 |
70,409,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0576:Gad1
|
UTSW |
2 |
70,424,996 (GRCm39) |
missense |
probably benign |
0.27 |
R1386:Gad1
|
UTSW |
2 |
70,404,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1677:Gad1
|
UTSW |
2 |
70,404,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R1842:Gad1
|
UTSW |
2 |
70,404,597 (GRCm39) |
missense |
probably benign |
0.12 |
R1907:Gad1
|
UTSW |
2 |
70,409,482 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1933:Gad1
|
UTSW |
2 |
70,417,736 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3029:Gad1
|
UTSW |
2 |
70,425,034 (GRCm39) |
missense |
probably benign |
|
R4085:Gad1
|
UTSW |
2 |
70,420,192 (GRCm39) |
missense |
probably benign |
0.36 |
R4321:Gad1
|
UTSW |
2 |
70,420,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Gad1
|
UTSW |
2 |
70,420,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4687:Gad1
|
UTSW |
2 |
70,431,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4986:Gad1
|
UTSW |
2 |
70,431,037 (GRCm39) |
missense |
probably benign |
|
R5387:Gad1
|
UTSW |
2 |
70,394,195 (GRCm39) |
nonsense |
probably null |
|
R5603:Gad1
|
UTSW |
2 |
70,420,173 (GRCm39) |
missense |
probably damaging |
0.98 |
R6500:Gad1
|
UTSW |
2 |
70,423,780 (GRCm39) |
missense |
probably damaging |
0.98 |
R7146:Gad1
|
UTSW |
2 |
70,417,706 (GRCm39) |
missense |
probably benign |
0.00 |
R7352:Gad1
|
UTSW |
2 |
70,425,094 (GRCm39) |
missense |
probably benign |
0.00 |
R7559:Gad1
|
UTSW |
2 |
70,394,256 (GRCm39) |
critical splice donor site |
probably null |
|
R7579:Gad1
|
UTSW |
2 |
70,417,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7809:Gad1
|
UTSW |
2 |
70,427,603 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7941:Gad1
|
UTSW |
2 |
70,424,929 (GRCm39) |
splice site |
probably null |
|
R8290:Gad1
|
UTSW |
2 |
70,404,610 (GRCm39) |
missense |
probably benign |
0.00 |
R8353:Gad1
|
UTSW |
2 |
70,431,057 (GRCm39) |
missense |
probably benign |
0.00 |
R8453:Gad1
|
UTSW |
2 |
70,431,057 (GRCm39) |
missense |
probably benign |
0.00 |
R9017:Gad1
|
UTSW |
2 |
70,416,206 (GRCm39) |
missense |
probably benign |
0.01 |
R9207:Gad1
|
UTSW |
2 |
70,409,546 (GRCm39) |
critical splice donor site |
probably null |
|
R9250:Gad1
|
UTSW |
2 |
70,409,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Gad1
|
UTSW |
2 |
70,417,716 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9433:Gad1
|
UTSW |
2 |
70,423,807 (GRCm39) |
missense |
|
|
R9589:Gad1
|
UTSW |
2 |
70,416,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9620:Gad1
|
UTSW |
2 |
70,404,620 (GRCm39) |
missense |
possibly damaging |
0.54 |
X0026:Gad1
|
UTSW |
2 |
70,420,210 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Gad1
|
UTSW |
2 |
70,409,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGACATGTGGATTCAGGG -3'
(R):5'- GCTGAGTGCTAAGACCATCAAC -3'
Sequencing Primer
(F):5'- GCTGAACCAATGGTCTGT -3'
(R):5'- TGTCACAATGAAAACCATTAATTTCC -3'
|
Posted On |
2022-10-06 |