Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Gad2'

216645

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

039964-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22512262-22583889 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22575440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 515 (T515S)

Ref Sequence

ENSEMBL: ENSMUSP00000028123 (fasta)

Gene Model

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

AlphaFold

P48320

Predicted Effect

probably benign
Transcript: ENSMUST00000028123
AA Change: T515S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: T515S

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

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adamts5	C	A	16: 85,696,131 (GRCm39)	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Aen	G	C	7: 78,552,420 (GRCm39)	E32Q	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgap44	A	G	11: 64,902,922 (GRCm39)	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
Bmpr2	T	C	1: 59,907,556 (GRCm39)	V883A	possibly damaging	Het
Bpifa1	A	T	2: 153,987,554 (GRCm39)	I135F	probably damaging	Het
Bsn	A	G	9: 107,991,850 (GRCm39)	F1301L	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,376,861 (GRCm39)	E1434G	probably damaging	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,944,957 (GRCm39)	T450M	probably benign	Het
Dlg4	A	G	11: 69,930,401 (GRCm39)	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,931,359 (GRCm39)	T1458K	probably benign	Het
Dock5	A	T	14: 68,023,765 (GRCm39)	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,713,605 (GRCm39)	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fndc11	A	T	2: 180,863,627 (GRCm39)	D144V	probably benign	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Ganab	T	A	19: 8,888,172 (GRCm39)	D439E	probably damaging	Het
Gm10228	C	A	16: 88,838,241 (GRCm39)	G21V	unknown	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,774,629 (GRCm39)	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Kcnq2	T	A	2: 180,730,244 (GRCm39)	D446V	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Lrrcc1	A	G	3: 14,615,453 (GRCm39)	R394G	probably benign	Het
Lrrk2	G	A	15: 91,620,864 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Msrb3	A	G	10: 120,687,913 (GRCm39)	V54A	probably damaging	Het
Muc21	A	T	17: 35,933,416 (GRCm39)		probably benign	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,111,476 (GRCm39)	T1314I	probably damaging	Het
Nes	A	G	3: 87,885,821 (GRCm39)	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,434,295 (GRCm39)	Q285P	probably damaging	Het
Nkd1	C	T	8: 89,318,745 (GRCm39)	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Or10ak11	T	C	4: 118,687,223 (GRCm39)	N139S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or5b3	T	C	19: 13,388,143 (GRCm39)	V70A	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Otx1	G	T	11: 21,948,482 (GRCm39)	T46K	probably damaging	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,611,952 (GRCm39)	L304*	probably null	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,820,008 (GRCm39)	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,470,196 (GRCm39)	D19G	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Rimbp3	G	A	16: 17,028,291 (GRCm39)	V572I	probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Syngr3	T	C	17: 24,906,680 (GRCm39)	N45S	probably benign	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Usf2	T	C	7: 30,655,663 (GRCm39)	T1A	probably null	Het
Vill	A	T	9: 118,887,560 (GRCm39)	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,147,476 (GRCm39)		probably null	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
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'- TCCTTTGAGCTGGGATAAAGAG -3'
(R):5'- AATGGCTTTGCACATCTGGG -3'

Sequencing Primer
(F):5'- TGGACTCACAACTCTGAAGAATGTG -3'
(R):5'- CACATCTGGGCTCTGTGAG -3'

Posted On

2014-08-01