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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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