Incidental Mutation 'R9017:Gad1'
| ID |
686049 |
| 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 |
068847-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70391644-70432358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70416206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 222
(V222I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094934]
[ENSMUST00000123330]
[ENSMUST00000130604]
[ENSMUST00000130998]
[ENSMUST00000148210]
|
| AlphaFold |
P48318 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094934
AA Change: V222I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: V222I
| 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 benign
Transcript: ENSMUST00000123330
AA Change: V222I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116301
Gene: ENSMUSG00000070880
AA Change: V222I
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,211 (GRCm39) |
T629A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,542,550 (GRCm39) |
V632A |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,987,487 (GRCm39) |
E2924K |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,786 (GRCm39) |
Y232C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,841 (GRCm39) |
N130K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,584,256 (GRCm39) |
|
probably null |
Het |
| Cep70 |
T |
C |
9: 99,181,829 (GRCm39) |
I613T |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,883 (GRCm39) |
V3056I |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,386,282 (GRCm39) |
F143L |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,228,572 (GRCm39) |
R2172H |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,657,898 (GRCm39) |
E424G |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,880,477 (GRCm39) |
E237G |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,881,316 (GRCm39) |
C732Y |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,299,411 (GRCm39) |
N264S |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,743,349 (GRCm39) |
S1064G |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,176,968 (GRCm39) |
Y360N |
probably damaging |
Het |
| E2f3 |
T |
G |
13: 30,097,478 (GRCm39) |
D295A |
probably damaging |
Het |
| Eef2 |
T |
C |
10: 81,015,487 (GRCm39) |
L336P |
possibly damaging |
Het |
| Fanca |
A |
G |
8: 124,035,307 (GRCm39) |
S213P |
possibly damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,903 (GRCm39) |
S375T |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,568,858 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Gpr55 |
T |
C |
1: 85,868,624 (GRCm39) |
N319S |
probably benign |
Het |
| Grik2 |
T |
A |
10: 48,989,555 (GRCm39) |
I825F |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,482 (GRCm39) |
S230P |
unknown |
Het |
| Kansl3 |
T |
C |
1: 36,393,861 (GRCm39) |
I222V |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,203 (GRCm39) |
S822P |
probably benign |
Het |
| Kremen2 |
T |
A |
17: 23,964,737 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
G |
T |
15: 101,651,100 (GRCm39) |
R128S |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,397 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,244 (GRCm39) |
S600G |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,216,711 (GRCm39) |
C167S |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,857 (GRCm39) |
V17A |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,840 (GRCm39) |
L179Q |
unknown |
Het |
| Or13g1 |
A |
T |
7: 85,955,957 (GRCm39) |
Y121* |
probably null |
Het |
| Or13p8 |
T |
A |
4: 118,583,565 (GRCm39) |
F40L |
probably benign |
Het |
| Or4c29 |
G |
T |
2: 88,739,951 (GRCm39) |
T262K |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,214,431 (GRCm39) |
F63L |
probably benign |
Het |
| Pde3b |
C |
T |
7: 114,015,695 (GRCm39) |
Q304* |
probably null |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
G |
8: 106,105,332 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,630,251 (GRCm39) |
R622L |
unknown |
Het |
| Ppip5k2 |
A |
G |
1: 97,655,139 (GRCm39) |
L879P |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,376,366 (GRCm39) |
V563M |
possibly damaging |
Het |
| Prom1 |
G |
T |
5: 44,204,870 (GRCm39) |
D201E |
probably damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,231 (GRCm39) |
D723E |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,719 (GRCm39) |
N825K |
possibly damaging |
Het |
| Sds |
A |
T |
5: 120,618,655 (GRCm39) |
M70L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,592,079 (GRCm39) |
R256H |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,070,545 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,138,588 (GRCm39) |
I452F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,062,395 (GRCm39) |
I162V |
possibly damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tenm3 |
T |
A |
8: 48,707,668 (GRCm39) |
N1710I |
probably damaging |
Het |
| Tmem115 |
T |
A |
9: 107,411,880 (GRCm39) |
M68K |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,866,936 (GRCm39) |
I655V |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,316 (GRCm39) |
I69V |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Trim9 |
A |
G |
12: 70,314,013 (GRCm39) |
M544T |
probably benign |
Het |
| Ttll3 |
G |
A |
6: 113,389,850 (GRCm39) |
R745H |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,737,931 (GRCm39) |
L4249I |
unknown |
Het |
| Unc79 |
G |
A |
12: 103,074,874 (GRCm39) |
|
probably null |
Het |
| Vmn1r196 |
T |
C |
13: 22,478,254 (GRCm39) |
C298R |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
| Zfp853 |
A |
G |
5: 143,274,243 (GRCm39) |
L474P |
unknown |
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 |
|
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 |
|
R9675:Gad1
|
UTSW |
2 |
70,416,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGCTGAGTGCTAAGACCATCAAC -3'
Sequencing Primer
(F):5'- GCTGAACCAATGGTCTGT -3'
(R):5'- TGTCACAATGAAAACCATTAATTTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation