Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Gabrp'

424668

Institutional Source

Beutler Lab

Gene Symbol

Gabrp

Ensembl Gene

ENSMUSG00000020159

Gene Name

gamma-aminobutyric acid type A receptor subunit pi

Synonyms

MMRRC Submission

042873-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33500781-33528959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33517310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 121 (Y121N)

Ref Sequence

ENSEMBL: ENSMUSP00000020366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020366]

AlphaFold

Q8QZW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020366
AA Change: Y121N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: Y121N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Neur_chan_LBD	40	242	1.3e-49	PFAM
Pfam:Neur_chan_memb	249	353	5.2e-23	PFAM
transmembrane domain	420	437	N/A	INTRINSIC

Meta Mutation Damage Score

0.6407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Edrf1	T	C	7: 133,252,295 (GRCm39)	Y449H	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Gtf2f2	T	C	14: 76,135,089 (GRCm39)	Y212C	probably damaging	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Obox3	T	C	7: 15,360,774 (GRCm39)	K122E	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Plekhh3	T	A	11: 101,057,397 (GRCm39)	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Wdr25	T	C	12: 108,863,968 (GRCm39)	S38P	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	Het

Other mutations in Gabrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Gabrp	APN	11	33,502,644 (GRCm39)	missense	possibly damaging	0.91
IGL01299:Gabrp	APN	11	33,504,476 (GRCm39)	missense	probably damaging	1.00
IGL01305:Gabrp	APN	11	33,505,055 (GRCm39)	missense	probably damaging	1.00
IGL01686:Gabrp	APN	11	33,502,826 (GRCm39)	nonsense	probably null
IGL01729:Gabrp	APN	11	33,502,689 (GRCm39)	missense	probably damaging	1.00
IGL03031:Gabrp	APN	11	33,504,980 (GRCm39)	missense	probably damaging	1.00
IGL03172:Gabrp	APN	11	33,504,388 (GRCm39)	missense	probably damaging	1.00
IGL03280:Gabrp	APN	11	33,502,616 (GRCm39)	missense	probably benign	0.12
ANU22:Gabrp	UTSW	11	33,505,055 (GRCm39)	missense	probably damaging	1.00
R0265:Gabrp	UTSW	11	33,502,614 (GRCm39)	missense	probably damaging	1.00
R0326:Gabrp	UTSW	11	33,504,362 (GRCm39)	missense	probably damaging	0.99
R1744:Gabrp	UTSW	11	33,522,462 (GRCm39)	missense	probably benign	0.03
R4174:Gabrp	UTSW	11	33,518,092 (GRCm39)	missense	probably damaging	1.00
R5043:Gabrp	UTSW	11	33,518,072 (GRCm39)	missense	probably benign	0.00
R5213:Gabrp	UTSW	11	33,517,211 (GRCm39)	critical splice donor site	probably null
R5665:Gabrp	UTSW	11	33,504,308 (GRCm39)	missense	possibly damaging	0.56
R6698:Gabrp	UTSW	11	33,507,017 (GRCm39)	missense	probably damaging	1.00
R8711:Gabrp	UTSW	11	33,505,023 (GRCm39)	missense	probably damaging	1.00
R8817:Gabrp	UTSW	11	33,504,464 (GRCm39)	missense	possibly damaging	0.77
R9188:Gabrp	UTSW	11	33,517,252 (GRCm39)	missense	possibly damaging	0.92
R9618:Gabrp	UTSW	11	33,504,342 (GRCm39)	nonsense	probably null
Z1176:Gabrp	UTSW	11	33,502,673 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GAGAACAGGATTTGGTATTGGC -3'
(R):5'- GAGGGGAGTGAAACTTAACCCC -3'

Sequencing Primer
(F):5'- TTGGTATTGGCCAAAGTACACAG -3'
(R):5'- GGGAGTGAAACTTAACCCCTTTCC -3'

Posted On

2016-08-04