Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Gad1'

39836

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

038654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70391644-70432358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70409545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 212 (M212K)

Ref Sequence

ENSEMBL: ENSMUSP00000119733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094934] [ENSMUST00000123330] [ENSMUST00000130604] [ENSMUST00000130998] [ENSMUST00000148210]

AlphaFold

P48318

Predicted Effect

probably damaging
Transcript: ENSMUST00000094934
AA Change: M212K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: M212K

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: M212K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116301
Gene: ENSMUSG00000070880
AA Change: M212K

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 damaging
Transcript: ENSMUST00000130604
AA Change: M212K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117721
Gene: ENSMUSG00000070880
AA Change: M212K

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 damaging
Transcript: ENSMUST00000130998
AA Change: M212K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119379
Gene: ENSMUSG00000070880
AA Change: M212K

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

noncoding transcript
Transcript: ENSMUST00000140478

Predicted Effect

probably damaging
Transcript: ENSMUST00000148210
AA Change: M212K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119733
Gene: ENSMUSG00000070880
AA Change: M212K

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

noncoding transcript
Transcript: ENSMUST00000155979

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly 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
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
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'- GCTCCAGCCCTTTGCTCTGAAGATAG -3'
(R):5'- ACAGCCTCAGTGTTAAGTACCAATGTG -3'

Sequencing Primer
(F):5'- CCCTTTGCTCTGAAGATAGCAATG -3'
(R):5'- CACTGGGAGAATGAATCTGCTG -3'

Posted On

2013-05-23