Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Gabrg1'

489009

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

044295-MU

Accession Numbers

Essential gene?

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

Stock #

R6148 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70908390-70999960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70931804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 313 (M313K)

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: M313K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: M313K

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

Meta Mutation Damage Score

0.9288

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	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
R5104:Gabrg1	UTSW	5	70,931,775 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAATGTTCCCTCCTGTGTG -3'
(R):5'- GTGAATGTAATGTAGCCATGGTTAC -3'

Sequencing Primer
(F):5'- ACATACCGAAGTCTTGTTTTTCAGC -3'
(R):5'- GCCATGGTTACTAGTAATTCTTTCTG -3'

Posted On

2017-10-10