Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Gad1'

570614

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

045438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70391644-70432358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70425094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 463 (F463L)

Ref Sequence

ENSEMBL: ENSMUSP00000092539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094934]

AlphaFold

P48318

Predicted Effect

probably benign
Transcript: ENSMUST00000094934
AA Change: F463L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: F463L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gcc2	T	C	10: 58,116,520 (GRCm39)		probably null	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	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
R7146:Gad1	UTSW	2	70,417,706 (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'- TCTCTGACTGGTGAGGACAG -3'
(R):5'- AAGGAGATACCGTTAACTCAATCAG -3'

Sequencing Primer
(F):5'- ACTGGTGAGGACAGTTGTTCACATC -3'
(R):5'- CATATGCAGTGAACTATCTGTGATC -3'

Posted On

2019-09-13