Mutagenetix > Incidental Mutation

Incidental Mutation 'R0630:Gad2'

57802

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

038819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0630 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

22512262-22583889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22580348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 583 (Q583L)

Ref Sequence

ENSEMBL: ENSMUSP00000028123 (fasta)

Gene Model

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

AlphaFold

P48320

Predicted Effect

probably benign
Transcript: ENSMUST00000028123
AA Change: Q583L

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: Q583L

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

Meta Mutation Damage Score

0.1683

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

97% (108/111)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,766,104 (GRCm39)		probably benign	Het
4930562C15Rik	T	A	16: 4,668,803 (GRCm39)	N731K	possibly damaging	Het
Adgra1	A	T	7: 139,432,500 (GRCm39)	K113*	probably null	Het
Adgrl2	T	C	3: 148,544,880 (GRCm39)	I659M	probably damaging	Het
Adm	G	T	7: 110,227,755 (GRCm39)	R41L	probably damaging	Het
Aimp2	T	C	5: 143,843,419 (GRCm39)	E97G	probably benign	Het
Aox1	T	C	1: 58,376,480 (GRCm39)		probably benign	Het
Arhgap20	G	A	9: 51,760,684 (GRCm39)	R809H	probably damaging	Het
Arsa	T	C	15: 89,358,207 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,294,547 (GRCm39)	A88S	probably damaging	Het
Atm	G	A	9: 53,442,922 (GRCm39)		probably benign	Het
Atp1a2	A	T	1: 172,118,842 (GRCm39)	I100N	possibly damaging	Het
Camta2	G	C	11: 70,569,131 (GRCm39)	L605V	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Ccdc60	A	G	5: 116,274,440 (GRCm39)	V388A	possibly damaging	Het
Cdk14	C	T	5: 5,185,422 (GRCm39)		probably benign	Het
Cdyl2	C	T	8: 117,350,774 (GRCm39)	G119E	probably benign	Het
Celsr3	A	G	9: 108,704,891 (GRCm39)	N458S	probably damaging	Het
Chd3	A	C	11: 69,238,021 (GRCm39)	H1808Q	probably damaging	Het
Cntnap2	T	C	6: 46,965,694 (GRCm39)	V835A	probably damaging	Het
Col4a1	C	A	8: 11,249,889 (GRCm39)		probably benign	Het
Cpsf1	A	G	15: 76,486,171 (GRCm39)	V357A	probably damaging	Het
Cryzl1	A	G	16: 91,504,107 (GRCm39)		probably benign	Het
Cts8	T	C	13: 61,401,256 (GRCm39)	K90R	possibly damaging	Het
Cux1	A	G	5: 136,315,689 (GRCm39)	V1117A	probably damaging	Het
Dbx1	T	C	7: 49,282,444 (GRCm39)	T254A	probably damaging	Het
Dgki	C	A	6: 36,977,133 (GRCm39)	C659F	probably damaging	Het
Dnajc1	T	G	2: 18,236,612 (GRCm39)	D332A	probably damaging	Het
Dock8	C	A	19: 25,038,524 (GRCm39)	T70K	probably benign	Het
Dsc1	T	A	18: 20,218,919 (GRCm39)	T828S	probably damaging	Het
Dst	T	G	1: 34,232,531 (GRCm39)	V3510G	probably benign	Het
Dst	T	C	1: 34,238,554 (GRCm39)	V1738A	probably damaging	Het
Ehmt2	A	G	17: 35,118,818 (GRCm39)	T167A	probably benign	Het
Eri2	A	T	7: 119,385,640 (GRCm39)	V287E	probably benign	Het
Fat4	T	A	3: 39,054,321 (GRCm39)	L4121H	probably damaging	Het
Fbn1	T	A	2: 125,236,690 (GRCm39)	D330V	possibly damaging	Het
Fign	A	G	2: 63,810,485 (GRCm39)	Y262H	possibly damaging	Het
Fnd3c2	C	T	X: 105,282,763 (GRCm39)	M593I	probably benign	Het
Fndc7	T	A	3: 108,783,931 (GRCm39)	E226V	probably damaging	Het
Gcn1	G	A	5: 115,719,148 (GRCm39)	A334T	probably benign	Het
Ggt1	A	G	10: 75,421,336 (GRCm39)		probably null	Het
Gli2	C	T	1: 118,769,648 (GRCm39)	G635R	possibly damaging	Het
Gm10253	T	C	3: 88,646,420 (GRCm39)	E93G	unknown	Het
Gm10428	A	G	11: 62,644,256 (GRCm39)		probably benign	Het
Gm7104	T	C	12: 88,252,479 (GRCm39)		noncoding transcript	Het
Gm8258	T	G	5: 104,924,385 (GRCm39)		noncoding transcript	Het
Gpr107	A	G	2: 31,104,309 (GRCm39)	N538S	possibly damaging	Het
Hars1	T	C	18: 36,904,442 (GRCm39)	E190G	probably damaging	Het
Hoxc10	C	T	15: 102,875,917 (GRCm39)	P209S	probably benign	Het
Ighg3	T	C	12: 113,323,714 (GRCm39)		probably benign	Het
Igsf10	C	A	3: 59,233,483 (GRCm39)	W1750L	probably damaging	Het
Igsf5	C	A	16: 96,174,023 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,563,615 (GRCm39)		probably benign	Het
Ldhd	T	C	8: 112,353,934 (GRCm39)	K422R	probably benign	Het
Masp1	T	C	16: 23,271,169 (GRCm39)	K693R	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mbd1	T	A	18: 74,409,798 (GRCm39)		probably benign	Het
Mdm4	G	A	1: 132,919,491 (GRCm39)	T459I	possibly damaging	Het
Megf10	A	T	18: 57,421,067 (GRCm39)	I902F	probably benign	Het
Mta3	A	G	17: 84,022,056 (GRCm39)	N37S	probably damaging	Het
Mterf3	T	A	13: 67,060,372 (GRCm39)	Y372F	probably damaging	Het
Nbeal2	A	G	9: 110,465,102 (GRCm39)		probably benign	Het
Nbr1	T	C	11: 101,457,913 (GRCm39)		probably benign	Het
Ndst3	A	G	3: 123,355,720 (GRCm39)	M103T	probably damaging	Het
Notch3	C	A	17: 32,366,446 (GRCm39)		probably benign	Het
Npr2	A	T	4: 43,641,219 (GRCm39)	E415V	probably benign	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or4k40	T	C	2: 111,251,191 (GRCm39)	Y35C	probably damaging	Het
Or52h9	G	C	7: 104,202,998 (GRCm39)	V291L	probably benign	Het
Or5be3	A	T	2: 86,863,653 (GRCm39)	M304K	probably benign	Het
Or8b50	T	A	9: 38,518,192 (GRCm39)	F144I	probably benign	Het
Pappa2	T	A	1: 158,660,343 (GRCm39)	D1246V	probably benign	Het
Pcdhgc5	A	T	18: 37,954,931 (GRCm39)	D735V	probably benign	Het
Pik3ca	A	G	3: 32,504,176 (GRCm39)	Y622C	possibly damaging	Het
Plppr2	A	G	9: 21,859,197 (GRCm39)	D438G	probably benign	Het
Ppfibp2	A	T	7: 107,337,806 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,638,907 (GRCm39)	L77Q	probably null	Het
Prdm8	T	C	5: 98,332,380 (GRCm39)	S94P	probably damaging	Het
Prkdc	A	T	16: 15,628,665 (GRCm39)	Q3470L	probably damaging	Het
Prl3c1	T	C	13: 27,384,674 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,688,076 (GRCm39)	H206L	probably benign	Het
Rack1	G	A	11: 48,694,804 (GRCm39)		probably benign	Het
Rere	T	C	4: 150,703,545 (GRCm39)	L1509P	probably damaging	Het
Rgma	T	A	7: 73,067,366 (GRCm39)	L301Q	probably damaging	Het
Rgs6	T	A	12: 83,094,324 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,823,973 (GRCm39)	R1613S	probably damaging	Het
Ripk1	T	G	13: 34,211,764 (GRCm39)	F358C	probably damaging	Het
Robo2	T	C	16: 73,713,093 (GRCm39)	D1217G	probably benign	Het
Shc2	A	T	10: 79,461,975 (GRCm39)	W357R	probably null	Het
Slc25a45	T	C	19: 5,930,556 (GRCm39)	L81P	probably damaging	Het
Slc9c1	A	T	16: 45,363,483 (GRCm39)		probably benign	Het
Spats2	T	C	15: 99,083,909 (GRCm39)		probably null	Het
Stac3	A	T	10: 127,343,632 (GRCm39)	E258V	probably damaging	Het
Thada	A	G	17: 84,536,603 (GRCm39)	S1648P	probably damaging	Het
Tmem168	T	C	6: 13,583,064 (GRCm39)	T222A	probably benign	Het
Tmtc4	T	C	14: 123,163,502 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,260,551 (GRCm39)	S292P	probably damaging	Het
Trim38	T	G	13: 23,975,115 (GRCm39)	Y351*	probably null	Het
Trip12	T	C	1: 84,771,636 (GRCm39)	R213G	possibly damaging	Het
Vav3	C	T	3: 109,331,328 (GRCm39)	R76W	probably damaging	Het
Vmn1r63	G	T	7: 5,806,263 (GRCm39)	P123H	probably damaging	Het
Wdr5	A	G	2: 27,410,619 (GRCm39)	N130S	probably benign	Het
Wnk4	C	A	11: 101,156,212 (GRCm39)	R27S	probably damaging	Het
Ykt6	G	A	11: 5,909,323 (GRCm39)	S44N	probably benign	Het
Ythdc1	T	A	5: 86,957,207 (GRCm39)		probably benign	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
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
R4651:Gad2	UTSW	2	22,558,374 (GRCm39)	missense	probably damaging	1.00
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'- AGAGAAAGTCGTTGCACTGACGTG -3'
(R):5'- GTCCTTTTCACTGTACCCCAGAGAAC -3'

Sequencing Primer
(F):5'- GACGTGTTCTCTTCCACAGG -3'
(R):5'- atctgcctgcctctgcc -3'

Posted On

2013-07-11