Mutagenetix > Incidental Mutations

Incidental Mutation 'R4651:Gad2'

386317

Institutional Source

Beutler Lab

Gene Symbol

Gad2

Ensembl Gene

ENSMUSG00000026787

Gene Name

glutamic acid decarboxylase 2

Synonyms

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

MMRRC Submission

041911-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22622205-22693874 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22668362 bp

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]

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: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Ahnak2	T	G	12: 112,774,837	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,515,826	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,684,027	V543A	probably benign	Het
Ano10	A	T	9: 122,261,115	Y377*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp10b	G	A	11: 43,194,645	G284S	probably damaging	Het
Atp5c1	A	G	2: 10,063,476	F180S	probably damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Ccnf	C	A	17: 24,231,786	R406L	probably damaging	Het
Ceacam12	A	G	7: 18,067,434	T113A	probably damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Col12a1	A	T	9: 79,612,946	D2815E	probably damaging	Het
Cpox	G	T	16: 58,670,687	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,038	I607T	possibly damaging	Het
Cux1	A	T	5: 136,567,229	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,994,891	T136A	probably benign	Het
Dhx58	T	A	11: 100,701,359	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,729,143	Y127H	probably benign	Het
Dnd1	G	A	18: 36,765,061		probably benign	Het
Ehmt2	C	A	17: 34,913,814	N1171K	probably damaging	Het
Fanci	T	A	7: 79,435,256	M838K	possibly damaging	Het
Flot1	T	C	17: 35,832,544		probably benign	Het
Gm10375	C	A	14: 43,606,869		probably null	Het
Gm9996	T	A	10: 29,143,758		probably benign	Het
Gnat3	T	A	5: 18,015,570	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,145,291	C261Y	probably damaging	Het
Irgc1	C	A	7: 24,432,813	R193L	probably damaging	Het
Kalrn	G	T	16: 34,176,391	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,194,064	H15N	probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Llgl1	A	G	11: 60,708,651	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,477,386	W790R	probably damaging	Het
Lsm2	T	A	17: 34,985,595		probably benign	Het
Med8	A	T	4: 118,410,892	E5V	probably damaging	Het
Mefv	A	G	16: 3,717,818	L82P	probably damaging	Het
Mettl3	T	A	14: 52,295,092	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,911,832		probably benign	Het
Ncapg2	T	A	12: 116,425,787	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070	Y187F	probably damaging	Het
Nomo1	T	A	7: 46,068,442	I799N	probably damaging	Het
Obscn	G	A	11: 59,038,877	R5824C	probably damaging	Het
Olfr1310	G	T	2: 112,008,250	S312Y	probably damaging	Het
Olfr430	A	G	1: 174,069,828	I177V	possibly damaging	Het
Olfr807	T	C	10: 129,755,418	I11V	probably benign	Het
Olfr849	T	A	9: 19,441,295	C127*	probably null	Het
Pgm3	T	A	9: 86,558,470	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,409,836	R20*	probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,082,911		probably benign	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,723,274	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,263,690	I137T	probably damaging	Het
Rrnad1	T	C	3: 87,927,672	H107R	probably benign	Het
Sdr42e1	T	C	8: 117,663,621	T94A	probably benign	Het
Setd2	A	G	9: 110,594,132	D2085G	possibly damaging	Het
Sgce	T	C	6: 4,689,560		probably benign	Het
Shisa3	A	G	5: 67,608,649	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,422,471	L1248*	probably null	Het
Skint7	T	G	4: 111,982,112	M201R	probably damaging	Het
Slc5a3	T	A	16: 92,077,202	V49E	probably benign	Het
Slc9c1	A	T	16: 45,547,393	*163L	probably null	Het
Smyd3	A	G	1: 179,043,741	Y358H	probably benign	Het
Srp68	A	T	11: 116,274,014	S31R	probably benign	Het
Stag1	T	A	9: 100,796,716	M230K	probably damaging	Het
Strc	A	T	2: 121,374,348	D985E	possibly damaging	Het
Syne2	A	G	12: 75,989,239	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,375,425	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,207,887	F863S	probably damaging	Het
Tek	T	C	4: 94,780,884	S41P	probably damaging	Het
Top1	T	C	2: 160,712,717	Y463H	probably damaging	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Ttn	A	G	2: 76,746,635	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,870,869		probably benign	Het
Tyro3	G	C	2: 119,816,868	G826A	probably benign	Het
Ube2b	A	G	11: 51,995,372		probably null	Het
Ubxn4	T	A	1: 128,274,850	W410R	probably benign	Het
Unc45a	T	C	7: 80,333,029	K383E	possibly damaging	Het
Usp7	A	C	16: 8,698,414		probably benign	Het
Vmn1r193	C	T	13: 22,219,525	G99D	probably damaging	Het
Vrk2	T	C	11: 26,489,803	D256G	probably damaging	Het
Wdr81	A	G	11: 75,451,240	V1067A	probably damaging	Het
Wiz	C	T	17: 32,357,681	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 118,014,051		noncoding transcript	Het

Other mutations in Gad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Gad2	APN	2	22685386	missense	probably benign	0.07
IGL00870:Gad2	APN	2	22629971	missense	probably benign	0.42
IGL01142:Gad2	APN	2	22681285	splice site	probably benign
IGL01577:Gad2	APN	2	22681280	splice site	probably benign
IGL01671:Gad2	APN	2	22623699	nonsense	probably null
IGL02346:Gad2	APN	2	22629939	splice site	probably benign
IGL02348:Gad2	APN	2	22629393	missense	probably damaging	1.00
IGL03113:Gad2	APN	2	22681355	missense	probably benign	0.09
gruene	UTSW	2	22685067	critical splice donor site	probably null
Mosey	UTSW	2	22668257	missense	probably damaging	1.00
R0630:Gad2	UTSW	2	22690336	missense	probably benign	0.14
R1109:Gad2	UTSW	2	22681394	missense	probably damaging	1.00
R1109:Gad2	UTSW	2	22690159	splice site	probably benign
R1122:Gad2	UTSW	2	22623451	missense	possibly damaging	0.68
R1604:Gad2	UTSW	2	22623840	critical splice donor site	probably null
R1773:Gad2	UTSW	2	22690207	missense	probably benign
R1895:Gad2	UTSW	2	22685428	missense	probably benign
R1946:Gad2	UTSW	2	22685428	missense	probably benign
R2329:Gad2	UTSW	2	22668289	missense	probably damaging	1.00
R2857:Gad2	UTSW	2	22673975	missense	probably benign	0.02
R3754:Gad2	UTSW	2	22681340	missense	possibly damaging	0.91
R3847:Gad2	UTSW	2	22684988	missense	probably benign	0.00
R4382:Gad2	UTSW	2	22685410	missense	probably benign
R4383:Gad2	UTSW	2	22685410	missense	probably benign
R4384:Gad2	UTSW	2	22685410	missense	probably benign
R4700:Gad2	UTSW	2	22673970	missense	probably damaging	1.00
R4766:Gad2	UTSW	2	22622667	missense	probably damaging	0.99
R5279:Gad2	UTSW	2	22673957	missense	probably benign	0.38
R5372:Gad2	UTSW	2	22690243	missense	possibly damaging	0.84
R5505:Gad2	UTSW	2	22624833	missense	probably benign
R5820:Gad2	UTSW	2	22690249	missense	probably benign	0.00
R5868:Gad2	UTSW	2	22685067	critical splice donor site	probably null
R6026:Gad2	UTSW	2	22623736	missense	probably benign	0.00
R6497:Gad2	UTSW	2	22668257	missense	probably damaging	1.00
R6675:Gad2	UTSW	2	22673985	missense	possibly damaging	0.67
R7157:Gad2	UTSW	2	22635023	missense	probably damaging	0.98
R7352:Gad2	UTSW	2	22623823	missense	probably benign	0.00
R7951:Gad2	UTSW	2	22623487	missense	probably damaging	0.96
R8285:Gad2	UTSW	2	22624928	missense	probably benign	0.45
R8549:Gad2	UTSW	2	22635047	critical splice donor site	probably null
X0019:Gad2	UTSW	2	22690172	critical splice acceptor site	probably null
Z1177:Gad2	UTSW	2	22635014	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