Mutagenetix > Incidental Mutation

Incidental Mutation 'R4651:Gad2'

386317

Institutional Source

Beutler Lab

Gene Symbol

Gad2

Ensembl Gene

ENSMUSG00000026787

Gene Name

glutamic acid decarboxylase 2

Synonyms

Gad-2, GAD(65), GAD65, 6330404F12Rik

MMRRC Submission

041911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22512262-22583889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22558374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 364 (D364V)

Ref Sequence

ENSEMBL: ENSMUSP00000028123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028123]

AlphaFold

P48320

Predicted Effect

probably damaging
Transcript: ENSMUST00000028123
AA Change: D364V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: D364V

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	138	509	7.8e-138	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175070

Meta Mutation Damage Score

0.9696

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit spontaneous (frequently fatal) seizures, increased anxiety-like behavior, and reduced intermale aggression. Heterozygotes show reduced aggressiveness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,492,787 (GRCm39)	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,591,343 (GRCm39)	V543A	probably benign	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp5f1c	A	G	2: 10,068,287 (GRCm39)	F180S	probably damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Ccnf	C	A	17: 24,450,760 (GRCm39)	R406L	probably damaging	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Cpox	G	T	16: 58,491,050 (GRCm39)	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,931,701 (GRCm39)	T136A	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Ehmt2	C	A	17: 35,132,790 (GRCm39)	N1171K	probably damaging	Het
Fanci	T	A	7: 79,085,004 (GRCm39)	M838K	possibly damaging	Het
Flot1	T	C	17: 36,143,436 (GRCm39)		probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,364,265 (GRCm39)	C261Y	probably damaging	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kalrn	G	T	16: 33,996,761 (GRCm39)	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,084,076 (GRCm39)	H15N	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Lsm2	T	A	17: 35,204,571 (GRCm39)		probably benign	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25b	T	C	3: 87,834,979 (GRCm39)	H107R	probably benign	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,753,752 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,389,407 (GRCm39)	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070 (GRCm39)	Y187F	probably damaging	Het
Nomo1	T	A	7: 45,717,866 (GRCm39)	I799N	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Or6n2	A	G	1: 173,897,394 (GRCm39)	I177V	possibly damaging	Het
Or7g30	T	A	9: 19,352,591 (GRCm39)	C127*	probably null	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
Sdr42e1	T	C	8: 118,390,360 (GRCm39)	T94A	probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Shisa3	A	G	5: 67,765,992 (GRCm39)	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc5a3	T	A	16: 91,874,090 (GRCm39)	V49E	probably benign	Het
Slc9c1	A	T	16: 45,367,756 (GRCm39)	*163L	probably null	Het
Smyd3	A	G	1: 178,871,306 (GRCm39)	Y358H	probably benign	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Syne2	A	G	12: 76,036,013 (GRCm39)	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,024,633 (GRCm39)	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Unc45a	T	C	7: 79,982,777 (GRCm39)	K383E	possibly damaging	Het
Usp7	A	C	16: 8,516,278 (GRCm39)		probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Wiz	C	T	17: 32,576,655 (GRCm39)	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	Het

Other mutations in Gad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Gad2	APN	2	22,575,398 (GRCm39)	missense	probably benign	0.07
IGL00870:Gad2	APN	2	22,519,983 (GRCm39)	missense	probably benign	0.42
IGL01142:Gad2	APN	2	22,571,297 (GRCm39)	splice site	probably benign
IGL01577:Gad2	APN	2	22,571,292 (GRCm39)	splice site	probably benign
IGL01671:Gad2	APN	2	22,513,711 (GRCm39)	nonsense	probably null
IGL02346:Gad2	APN	2	22,519,951 (GRCm39)	splice site	probably benign
IGL02348:Gad2	APN	2	22,519,405 (GRCm39)	missense	probably damaging	1.00
IGL03113:Gad2	APN	2	22,571,367 (GRCm39)	missense	probably benign	0.09
gruene	UTSW	2	22,575,079 (GRCm39)	critical splice donor site	probably null
Mosey	UTSW	2	22,558,269 (GRCm39)	missense	probably damaging	1.00
R0630:Gad2	UTSW	2	22,580,348 (GRCm39)	missense	probably benign	0.14
R1109:Gad2	UTSW	2	22,580,171 (GRCm39)	splice site	probably benign
R1109:Gad2	UTSW	2	22,571,406 (GRCm39)	missense	probably damaging	1.00
R1122:Gad2	UTSW	2	22,513,463 (GRCm39)	missense	possibly damaging	0.68
R1604:Gad2	UTSW	2	22,513,852 (GRCm39)	critical splice donor site	probably null
R1773:Gad2	UTSW	2	22,580,219 (GRCm39)	missense	probably benign
R1895:Gad2	UTSW	2	22,575,440 (GRCm39)	missense	probably benign
R1946:Gad2	UTSW	2	22,575,440 (GRCm39)	missense	probably benign
R2329:Gad2	UTSW	2	22,558,301 (GRCm39)	missense	probably damaging	1.00
R2857:Gad2	UTSW	2	22,563,987 (GRCm39)	missense	probably benign	0.02
R3754:Gad2	UTSW	2	22,571,352 (GRCm39)	missense	possibly damaging	0.91
R3847:Gad2	UTSW	2	22,575,000 (GRCm39)	missense	probably benign	0.00
R4382:Gad2	UTSW	2	22,575,422 (GRCm39)	missense	probably benign
R4383:Gad2	UTSW	2	22,575,422 (GRCm39)	missense	probably benign
R4384:Gad2	UTSW	2	22,575,422 (GRCm39)	missense	probably benign
R4700:Gad2	UTSW	2	22,563,982 (GRCm39)	missense	probably damaging	1.00
R4766:Gad2	UTSW	2	22,512,679 (GRCm39)	missense	probably damaging	0.99
R5279:Gad2	UTSW	2	22,563,969 (GRCm39)	missense	probably benign	0.38
R5372:Gad2	UTSW	2	22,580,255 (GRCm39)	missense	possibly damaging	0.84
R5505:Gad2	UTSW	2	22,514,845 (GRCm39)	missense	probably benign
R5820:Gad2	UTSW	2	22,580,261 (GRCm39)	missense	probably benign	0.00
R5868:Gad2	UTSW	2	22,575,079 (GRCm39)	critical splice donor site	probably null
R6026:Gad2	UTSW	2	22,513,748 (GRCm39)	missense	probably benign	0.00
R6497:Gad2	UTSW	2	22,558,269 (GRCm39)	missense	probably damaging	1.00
R6675:Gad2	UTSW	2	22,563,997 (GRCm39)	missense	possibly damaging	0.67
R7157:Gad2	UTSW	2	22,525,035 (GRCm39)	missense	probably damaging	0.98
R7352:Gad2	UTSW	2	22,513,835 (GRCm39)	missense	probably benign	0.00
R7951:Gad2	UTSW	2	22,513,499 (GRCm39)	missense	probably damaging	0.96
R8285:Gad2	UTSW	2	22,514,940 (GRCm39)	missense	probably benign	0.45
R8549:Gad2	UTSW	2	22,525,059 (GRCm39)	critical splice donor site	probably null
R8737:Gad2	UTSW	2	22,524,985 (GRCm39)	nonsense	probably null
R9012:Gad2	UTSW	2	22,580,263 (GRCm39)	missense	possibly damaging	0.56
R9184:Gad2	UTSW	2	22,558,331 (GRCm39)	missense	probably benign
R9212:Gad2	UTSW	2	22,571,399 (GRCm39)	missense	probably damaging	1.00
R9243:Gad2	UTSW	2	22,525,053 (GRCm39)	missense	possibly damaging	0.79
R9395:Gad2	UTSW	2	22,514,879 (GRCm39)	missense	probably damaging	0.96
X0019:Gad2	UTSW	2	22,580,184 (GRCm39)	critical splice acceptor site	probably null
Z1177:Gad2	UTSW	2	22,525,026 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCACTAAAAGAAGCCTGGAC -3'
(R):5'- ACATACTGTGTAAGTTCTGTGCCTC -3'

Sequencing Primer
(F):5'- ACTGGGCTATGTACCAAGACCTTG -3'
(R):5'- GTAAGTTCTGTGCCTCTGAAATC -3'

Posted On

2016-05-11