Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Gad1'

600992

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

045864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70391644-70432358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70427603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 503 (F503S)

Ref Sequence

ENSEMBL: ENSMUSP00000092539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094934]

AlphaFold

P48318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094934
AA Change: F503S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: F503S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Afm	A	G	5: 90,672,675 (GRCm39)	N170S	probably damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Rmnd1	T	C	10: 4,357,848 (GRCm39)	Y387C	probably damaging	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Thada	A	C	17: 84,759,265 (GRCm39)	V198G	possibly damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp383	G	A	7: 29,609,661 (GRCm39)	A21T	possibly damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	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
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'- TAATTAGATAGTCCTTCCTAGCCAC -3'
(R):5'- TACCTGGGCTTGTGTAAAGATATC -3'

Sequencing Primer
(F):5'- TTCTTTAAATGCCCCATAAGCCAGG -3'
(R):5'- GGCTTGTGTAAAGATATCAGGGG -3'

Posted On

2019-11-26