Mutagenetix > Incidental Mutation

Incidental Mutation 'R5104:Gabrg1'

392545

Institutional Source

Beutler Lab

Gene Symbol

Gabrg1

Ensembl Gene

ENSMUSG00000001260

Gene Name

gamma-aminobutyric acid type A receptor subunit gamma 1

Synonyms

GabaA

MMRRC Submission

042692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5104 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70908390-70999960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70931775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 323 (S323A)

Ref Sequence

ENSEMBL: ENSMUSP00000031119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031119] [ENSMUST00000199705]

AlphaFold

Q9R0Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031119
AA Change: S323A

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

SMART Domains

Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: S323A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	40	46	N/A	INTRINSIC
Pfam:Neur_chan_LBD	64	270	7e-51	PFAM
Pfam:Neur_chan_memb	277	378	2.3e-36	PFAM
low complexity region	411	422	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197068

Predicted Effect

probably benign
Transcript: ENSMUST00000199705

SMART Domains

Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	35	41	N/A	INTRINSIC
Pfam:Neur_chan_LBD	59	265	1.7e-50	PFAM
Pfam:Neur_chan_memb	272	304	9.5e-12	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	395	417	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,121 (GRCm39)	F109L	probably damaging	Het
Ano4	T	A	10: 88,903,974 (GRCm39)	Q241L	possibly damaging	Het
Apof	C	T	10: 128,105,487 (GRCm39)	R214*	probably null	Het
Armh4	A	T	14: 50,010,929 (GRCm39)	D259E	possibly damaging	Het
Atl2	A	T	17: 80,160,046 (GRCm39)	S47T	probably benign	Het
Azgp1	T	G	5: 137,985,815 (GRCm39)	I146S	probably damaging	Het
Bicral	G	A	17: 47,112,182 (GRCm39)	T1006I	probably damaging	Het
Ccdc110	A	T	8: 46,395,729 (GRCm39)	N540I	probably damaging	Het
Ccdc77	T	C	6: 120,325,346 (GRCm39)		probably null	Het
Cxcr5	G	T	9: 44,424,616 (GRCm39)	P347Q	probably benign	Het
Cyp4a14	T	G	4: 115,353,126 (GRCm39)	H62P	probably damaging	Het
Dgki	T	C	6: 37,126,509 (GRCm39)	E157G	possibly damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Ehd3	A	G	17: 74,134,442 (GRCm39)	N267S	probably benign	Het
Eno4	A	G	19: 58,933,973 (GRCm39)	Y58C	probably benign	Het
Fat2	A	G	11: 55,169,814 (GRCm39)	Y2982H	possibly damaging	Het
Frmd3	C	A	4: 74,063,315 (GRCm39)	A214D	probably damaging	Het
Gbp9	T	C	5: 105,228,007 (GRCm39)	I592V	probably benign	Het
Gje1	G	A	10: 14,592,462 (GRCm39)	Q107*	probably null	Het
Gm29609	T	C	5: 31,311,638 (GRCm39)		probably null	Het
Gpam	A	T	19: 55,082,418 (GRCm39)	F78I	probably benign	Het
Hecw1	T	C	13: 14,515,377 (GRCm39)	R252G	probably damaging	Het
Hsd3b5	T	A	3: 98,526,592 (GRCm39)	S285C	probably damaging	Het
Ighv1-74	T	C	12: 115,766,507 (GRCm39)	K37E	possibly damaging	Het
Igkv8-34	T	C	6: 70,021,138 (GRCm39)	D108G	probably damaging	Het
Il6st	C	G	13: 112,625,182 (GRCm39)	T266S	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kit	A	G	5: 75,776,138 (GRCm39)	T307A	probably benign	Het
Kmt2b	G	A	7: 30,269,265 (GRCm39)	R2552C	probably damaging	Het
Krt4	T	A	15: 101,828,758 (GRCm39)	R369W	probably damaging	Het
Larp4	T	A	15: 99,883,964 (GRCm39)	M8K	probably damaging	Het
Lrit3	T	A	3: 129,582,040 (GRCm39)	H528L	possibly damaging	Het
Mia3	A	G	1: 183,119,579 (GRCm39)	L157S	probably damaging	Het
Naa16	A	T	14: 79,622,140 (GRCm39)	Y32*	probably null	Het
Nbea	A	G	3: 55,987,348 (GRCm39)	Y381H	probably damaging	Het
Nelfcd	T	C	2: 174,268,159 (GRCm39)	V475A	probably benign	Het
Noxa1	T	C	2: 24,976,246 (GRCm39)	I347M	probably benign	Het
Or11h4b	T	A	14: 50,918,159 (GRCm39)	K311*	probably null	Het
Or2ag17	A	T	7: 106,389,539 (GRCm39)	F223Y	possibly damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or2y3	A	T	17: 38,393,174 (GRCm39)	S232T	possibly damaging	Het
Pabpc1l	T	A	2: 163,885,507 (GRCm39)	I420K	probably benign	Het
Pi4ka	C	T	16: 17,098,914 (GRCm39)	C1990Y	probably damaging	Het
Pkhd1	T	A	1: 20,655,415 (GRCm39)	Q223L	probably damaging	Het
Pkm	G	T	9: 59,575,964 (GRCm39)		probably null	Het
Proz	A	G	8: 13,116,931 (GRCm39)	D161G	probably damaging	Het
Ptprb	C	A	10: 116,158,364 (GRCm39)	H765Q	probably benign	Het
Relch	T	C	1: 105,658,965 (GRCm39)	V883A	probably benign	Het
Rffl	A	T	11: 82,703,619 (GRCm39)	C101*	probably null	Het
Rfx5	C	T	3: 94,862,451 (GRCm39)	T36I	probably benign	Het
Rnase12	C	A	14: 51,294,361 (GRCm39)	C106F	probably damaging	Het
Samd3	T	C	10: 26,139,686 (GRCm39)	S273P	possibly damaging	Het
Simc1	A	G	13: 54,674,175 (GRCm39)	D841G	probably benign	Het
Slc8a3	T	C	12: 81,260,908 (GRCm39)	E607G	probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Taf15	A	G	11: 83,378,222 (GRCm39)	Y154C	probably damaging	Het
Tgfb3	A	G	12: 86,105,756 (GRCm39)	V333A	possibly damaging	Het
Tiam1	A	G	16: 89,614,929 (GRCm39)	S2P	probably benign	Het
Tmed11	T	C	5: 108,925,142 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,170,257 (GRCm39)	D585G	probably damaging	Het
Trabd2b	T	C	4: 114,264,114 (GRCm39)	S34P	probably benign	Het
Trbv13-2	T	C	6: 41,098,745 (GRCm39)	Y107H	probably damaging	Het
Tuba3a	A	G	6: 125,259,347 (GRCm39)	V115A	probably benign	Het
Tut1	A	G	19: 8,936,698 (GRCm39)	E174G	probably benign	Het
Ubr3	T	A	2: 69,768,600 (GRCm39)	M469K	probably damaging	Het
Vcan	C	T	13: 89,805,591 (GRCm39)		probably benign	Het
Wapl	C	T	14: 34,414,016 (GRCm39)	Q293*	probably null	Het
Wdr24	A	G	17: 26,043,565 (GRCm39)	H129R	probably damaging	Het
Wrn	A	T	8: 33,757,895 (GRCm39)		probably null	Het

Other mutations in Gabrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Gabrg1	APN	5	70,973,298 (GRCm39)	critical splice donor site	probably null
IGL00798:Gabrg1	APN	5	70,939,626 (GRCm39)	missense	probably damaging	1.00
IGL01012:Gabrg1	APN	5	70,935,512 (GRCm39)	missense	probably benign	0.03
IGL01597:Gabrg1	APN	5	70,939,691 (GRCm39)	missense	probably damaging	1.00
IGL01637:Gabrg1	APN	5	70,934,548 (GRCm39)	missense	probably damaging	1.00
IGL02589:Gabrg1	APN	5	70,999,495 (GRCm39)	nonsense	probably null
IGL03031:Gabrg1	APN	5	70,952,025 (GRCm39)	nonsense	probably null
IGL03346:Gabrg1	APN	5	70,935,474 (GRCm39)	missense	possibly damaging	0.89
PIT4260001:Gabrg1	UTSW	5	70,939,623 (GRCm39)	missense	probably benign	0.01
R0197:Gabrg1	UTSW	5	70,931,732 (GRCm39)	missense	probably damaging	1.00
R1271:Gabrg1	UTSW	5	70,934,487 (GRCm39)	missense	probably damaging	0.98
R1795:Gabrg1	UTSW	5	70,939,596 (GRCm39)	missense	possibly damaging	0.83
R1817:Gabrg1	UTSW	5	70,911,594 (GRCm39)	missense	probably benign	0.08
R1820:Gabrg1	UTSW	5	70,931,756 (GRCm39)	missense	probably damaging	1.00
R2254:Gabrg1	UTSW	5	70,939,707 (GRCm39)	nonsense	probably null
R4566:Gabrg1	UTSW	5	70,999,484 (GRCm39)	missense	probably benign	0.01
R4768:Gabrg1	UTSW	5	70,911,516 (GRCm39)	missense	probably damaging	0.99
R4976:Gabrg1	UTSW	5	70,931,754 (GRCm39)	missense	possibly damaging	0.95
R6062:Gabrg1	UTSW	5	70,938,056 (GRCm39)	missense	probably damaging	1.00
R6086:Gabrg1	UTSW	5	70,911,396 (GRCm39)	missense	probably damaging	1.00
R6148:Gabrg1	UTSW	5	70,931,804 (GRCm39)	missense	probably damaging	1.00
R6234:Gabrg1	UTSW	5	70,999,484 (GRCm39)	missense	probably benign	0.01
R6724:Gabrg1	UTSW	5	70,911,552 (GRCm39)	missense	possibly damaging	0.80
R6786:Gabrg1	UTSW	5	70,911,610 (GRCm39)	missense	probably benign	0.00
R6794:Gabrg1	UTSW	5	70,973,314 (GRCm39)	missense	probably damaging	1.00
R7209:Gabrg1	UTSW	5	70,911,513 (GRCm39)	missense	probably damaging	0.98
R7654:Gabrg1	UTSW	5	70,935,504 (GRCm39)	missense	probably benign	0.44
R7671:Gabrg1	UTSW	5	70,973,323 (GRCm39)	missense	probably damaging	1.00
R7844:Gabrg1	UTSW	5	70,931,675 (GRCm39)	missense	probably damaging	1.00
R7877:Gabrg1	UTSW	5	70,973,415 (GRCm39)	missense	probably damaging	0.99
R8219:Gabrg1	UTSW	5	70,931,643 (GRCm39)	nonsense	probably null
R8998:Gabrg1	UTSW	5	70,973,378 (GRCm39)	missense	probably benign	0.01
R8999:Gabrg1	UTSW	5	70,973,378 (GRCm39)	missense	probably benign	0.01
R9132:Gabrg1	UTSW	5	70,939,622 (GRCm39)	missense	possibly damaging	0.90
R9279:Gabrg1	UTSW	5	70,934,599 (GRCm39)	missense	probably benign	0.00
R9358:Gabrg1	UTSW	5	70,935,422 (GRCm39)	missense	possibly damaging	0.93
R9483:Gabrg1	UTSW	5	70,999,558 (GRCm39)	missense	possibly damaging	0.74
R9506:Gabrg1	UTSW	5	70,939,713 (GRCm39)	missense	probably damaging	0.97
R9593:Gabrg1	UTSW	5	70,939,808 (GRCm39)	missense	probably damaging	1.00
R9747:Gabrg1	UTSW	5	70,938,029 (GRCm39)	missense	probably damaging	1.00
X0027:Gabrg1	UTSW	5	70,911,604 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATGTTCCCTCCTGTGTGAAGTTATC -3'
(R):5'- GCCATGGTTACTAGTAATTCTTTCTGG -3'

Sequencing Primer
(F):5'- CTCCTGTGTGAAGTTATCATCATAAC -3'
(R):5'- AGTAATTCTTTCTGGCAATCATATCC -3'

Posted On

2016-06-15