Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Gad1'

553757

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

045251-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70391644-70432358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70417706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 302 (F302L)

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: F302L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: F302L

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

SMART Domains

Protein: ENSMUSP00000116301
Gene: ENSMUSG00000070880

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

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,520 (GRCm39)	I895F	probably benign	Het
Abca16	A	G	7: 120,126,974 (GRCm39)	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,852,593 (GRCm39)	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,550,605 (GRCm39)	C702W	probably damaging	Het
Adk	C	A	14: 21,376,682 (GRCm39)	P27H		Het
Ankrd13a	T	C	5: 114,913,293 (GRCm39)	S2P	probably damaging	Het
Ano1	T	C	7: 144,209,393 (GRCm39)	H269R	probably benign	Het
Aox3	T	A	1: 58,197,688 (GRCm39)		probably null	Het
Asl	G	A	5: 130,053,290 (GRCm39)		probably benign	Het
Asxl2	A	T	12: 3,507,066 (GRCm39)	D86V	probably damaging	Het
Ate1	A	T	7: 130,083,508 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,562,670 (GRCm39)	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,571,142 (GRCm39)	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,443,654 (GRCm39)	Y24C	unknown	Het
Cage1	G	T	13: 38,207,025 (GRCm39)	N273K	probably benign	Het
Ccdc51	T	A	9: 108,920,848 (GRCm39)	I245N	probably damaging	Het
Cep152	T	C	2: 125,456,325 (GRCm39)	I229V	probably benign	Het
Chst4	T	A	8: 110,757,363 (GRCm39)	S167C	probably damaging	Het
Cntnap4	A	T	8: 113,537,268 (GRCm39)	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,519 (GRCm39)		probably null	Het
Cog8	G	T	8: 107,779,005 (GRCm39)	T424K	possibly damaging	Het
Cop1	T	G	1: 159,071,922 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,434,019 (GRCm39)	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,698 (GRCm39)	T131A	probably benign	Het
Dnah17	T	C	11: 117,972,936 (GRCm39)	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,863,591 (GRCm39)	D250G	probably benign	Het
Dnah8	T	C	17: 30,988,618 (GRCm39)	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,631,117 (GRCm39)	Y299*	probably null	Het
Efcab3	A	G	11: 104,858,578 (GRCm39)	N3879S	unknown	Het
Efcab3	A	C	11: 104,913,764 (GRCm39)	D4594A	probably benign	Het
Ephb1	A	G	9: 101,841,157 (GRCm39)	S774P	probably damaging	Het
Fat1	G	A	8: 45,403,962 (GRCm39)	V238I	probably benign	Het
Fermt1	C	T	2: 132,776,785 (GRCm39)	M234I	probably benign	Het
Fmnl2	C	T	2: 52,958,552 (GRCm39)	S212L		Het
Frem1	T	C	4: 82,840,532 (GRCm39)	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,469,863 (GRCm39)	M449L	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,132,697 (GRCm39)		probably benign	Het
Gnb3	C	T	6: 124,813,887 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,271,993 (GRCm39)	M642K	possibly damaging	Het
Hps3	A	T	3: 20,063,050 (GRCm39)	W838R	probably damaging	Het
Ide	A	T	19: 37,273,343 (GRCm39)	W527R		Het
Ighe	A	T	12: 113,235,975 (GRCm39)	I117N		Het
Ighv1-50	T	C	12: 115,083,396 (GRCm39)	E108G	probably benign	Het
Ivl	G	A	3: 92,479,538 (GRCm39)	P176S	probably damaging	Het
Lamb2	T	A	9: 108,361,283 (GRCm39)	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,770,832 (GRCm39)	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,266,006 (GRCm39)	C1053*	probably null	Het
Mcpt9	A	T	14: 56,264,445 (GRCm39)	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,224,357 (GRCm39)	N190K	probably damaging	Het
Mknk1	T	A	4: 115,721,789 (GRCm39)	V111D	probably damaging	Het
Mmp11	T	C	10: 75,764,280 (GRCm39)	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014 (GRCm39)	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,587 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,704 (GRCm39)	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nphp3	A	T	9: 103,882,036 (GRCm39)	K169*	probably null	Het
Npy6r	G	T	18: 44,408,788 (GRCm39)	V70F	probably benign	Het
Nsun2	T	A	13: 69,774,672 (GRCm39)		probably null	Het
Oplah	T	A	15: 76,186,860 (GRCm39)	I652F	probably benign	Het
Pcdh18	T	C	3: 49,710,271 (GRCm39)	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,409 (GRCm39)	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,795,164 (GRCm39)	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068 (GRCm39)		probably null	Het
Pfkp	C	A	13: 6,652,817 (GRCm39)	V434F	probably benign	Het
Phospho1	G	A	11: 95,721,732 (GRCm39)	R134H	probably damaging	Het
Polg2	G	T	11: 106,663,572 (GRCm39)	Q374K	probably benign	Het
Ptpra	T	C	2: 130,379,571 (GRCm39)		probably null	Het
Rassf3	C	T	10: 121,252,052 (GRCm39)	E120K	probably benign	Het
Reln	A	T	5: 22,311,095 (GRCm39)	S273T	probably damaging	Het
Scarb1	C	T	5: 125,361,089 (GRCm39)	A133T	probably benign	Het
Scn3a	T	A	2: 65,313,486 (GRCm39)	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,899,701 (GRCm39)	V398I	probably benign	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,324,646 (GRCm39)	T334M	probably damaging	Het
Smg7	T	C	1: 152,737,576 (GRCm39)	N122D	probably benign	Het
Speer4b	T	C	5: 27,703,708 (GRCm39)	I144V	probably benign	Het
Spire2	T	A	8: 124,095,989 (GRCm39)	D671E	probably benign	Het
Sspo	A	T	6: 48,478,029 (GRCm39)	H5144L	probably benign	Het
Sstr2	A	T	11: 113,516,179 (GRCm39)	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,815,850 (GRCm39)	F98S	probably damaging	Het
Syde2	C	T	3: 145,712,870 (GRCm39)	Q1003*	probably null	Het
Tapbp	G	A	17: 34,144,461 (GRCm39)	A186T	possibly damaging	Het
Tcf12	T	A	9: 71,790,385 (GRCm39)		probably null	Het
Tnfrsf22	A	T	7: 143,194,556 (GRCm39)	C124S	probably damaging	Het
Txlnb	A	T	10: 17,703,546 (GRCm39)	T235S	possibly damaging	Het
Uaca	T	C	9: 60,777,695 (GRCm39)	L694P	probably damaging	Het
Unc13a	T	A	8: 72,083,197 (GRCm39)	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,151,200 (GRCm39)	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,484,495 (GRCm39)	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,308,923 (GRCm39)	S756P	probably benign	Het
Washc5	C	A	15: 59,224,350 (GRCm39)	E470*	probably null	Het
Xpot	A	T	10: 121,442,678 (GRCm39)	V508D	probably damaging	Het
Zfp616	A	T	11: 73,976,087 (GRCm39)	K785N	possibly damaging	Het
Zfp653	T	C	9: 21,977,195 (GRCm39)	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,741,495 (GRCm39)	S257P	probably damaging	Het
Zfp82	T	A	7: 29,755,592 (GRCm39)	T497S	probably benign	Het
Znrf4	T	G	17: 56,819,305 (GRCm39)	M1L	probably benign	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
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'- TGCTCGTTACAAGTACTTCCCAG -3'
(R):5'- TTTGCCTCTAAATCAGCCGG -3'

Sequencing Primer
(F):5'- CTTCCCAGAAGTGAAGACAAAAGGC -3'
(R):5'- TGCCTCTAAATCAGCCGGAATTATC -3'

Posted On

2019-05-15