Mutagenetix > Incidental Mutation

Incidental Mutation 'R9618:Gabrp'

724674

Institutional Source

Beutler Lab

Gene Symbol

Gabrp

Ensembl Gene

ENSMUSG00000020159

Gene Name

gamma-aminobutyric acid type A receptor subunit pi

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9618 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33500781-33528959 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 33504342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 324 (Y324*)

Ref Sequence

ENSEMBL: ENSMUSP00000020366 (fasta)

Gene Model

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

AlphaFold

Q8QZW7

Predicted Effect

probably null
Transcript: ENSMUST00000020366
AA Change: Y324*

SMART Domains

Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: Y324*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
2310002L09Rik	C	A	4: 73,868,934 (GRCm39)	M1I	probably null	Het
2510039O18Rik	T	A	4: 148,029,873 (GRCm39)	Y614*	probably null	Het
4930562C15Rik	A	T	16: 4,667,418 (GRCm39)	S270C	unknown	Het
Ak9	A	C	10: 41,203,627 (GRCm39)	T173P		Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chrd	T	G	16: 20,552,378 (GRCm39)	C82W	probably damaging	Het
Cln6	T	C	9: 62,758,111 (GRCm39)	V290A	probably damaging	Het
Cps1	A	G	1: 67,196,975 (GRCm39)	D342G	possibly damaging	Het
Cracd	A	G	5: 77,004,617 (GRCm39)	D326G	unknown	Het
Cryzl2	G	A	1: 157,289,578 (GRCm39)	R72H	probably benign	Het
Cyp2j6	A	T	4: 96,414,085 (GRCm39)	H393Q	probably benign	Het
Eefsec	T	C	6: 88,274,681 (GRCm39)	T428A	probably benign	Het
Ergic1	G	A	17: 26,827,619 (GRCm39)	G25S	probably damaging	Het
Esf1	T	C	2: 140,001,714 (GRCm39)	I378V	probably benign	Het
Fndc1	T	A	17: 7,990,313 (GRCm39)	T1128S	unknown	Het
Hadha	G	A	5: 30,339,165 (GRCm39)	T270M	possibly damaging	Het
Hdac1-ps	T	C	17: 78,799,114 (GRCm39)	I35T	probably damaging	Het
Ino80d	G	A	1: 63,101,342 (GRCm39)	T428M	probably damaging	Het
Itgae	T	C	11: 73,011,171 (GRCm39)	F647S	possibly damaging	Het
Kank4	T	C	4: 98,653,732 (GRCm39)	R899G	possibly damaging	Het
Kcna4	T	A	2: 107,126,374 (GRCm39)	N369K	probably benign	Het
Kcnip3	G	T	2: 127,352,812 (GRCm39)	P69Q	probably benign	Het
Mcf2l	A	G	8: 13,034,320 (GRCm39)		probably benign	Het
Mtmr2	T	C	9: 13,707,315 (GRCm39)	V289A	probably benign	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Nxph1	T	G	6: 9,247,108 (GRCm39)	N26K	probably benign	Het
Obox1	A	G	7: 15,289,624 (GRCm39)	I138V	possibly damaging	Het
Or4c35	A	T	2: 89,808,343 (GRCm39)	T74S	probably benign	Het
Or4m1	A	T	14: 50,557,760 (GRCm39)	Y177*	probably null	Het
Or7e176	G	A	9: 20,171,639 (GRCm39)	V168M	possibly damaging	Het
P2ry14	T	A	3: 59,023,251 (GRCm39)	M70L	probably damaging	Het
Pcare	T	A	17: 72,057,817 (GRCm39)	Y620F	probably damaging	Het
Pcnt	A	G	10: 76,188,794 (GRCm39)	Y2869H	probably damaging	Het
Pkd1l1	T	C	11: 8,911,420 (GRCm39)	R286G		Het
Pygb	C	T	2: 150,657,008 (GRCm39)	R320W		Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slc15a5	A	T	6: 138,032,779 (GRCm39)	S192T	possibly damaging	Het
Tex15	A	G	8: 34,062,397 (GRCm39)	H609R	probably benign	Het
Tmem256	T	A	11: 69,730,210 (GRCm39)	S73T	possibly damaging	Het
Tpr	G	T	1: 150,321,979 (GRCm39)	A2338S	possibly damaging	Het
Trub2	A	T	2: 29,673,346 (GRCm39)	M119K	probably benign	Het
Vmn1r228	T	C	17: 20,997,045 (GRCm39)	M158V	probably benign	Het
Vmn2r100	A	T	17: 19,742,583 (GRCm39)	H319L	probably damaging	Het
Vmn2r3	T	A	3: 64,178,724 (GRCm39)	I514F	probably damaging	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Wnt16	G	T	6: 22,297,892 (GRCm39)	E253*	probably null	Het
Xkr4	A	T	1: 3,741,201 (GRCm39)	V124E	probably damaging	Het
Zc3h13	G	T	14: 75,567,542 (GRCm39)	R945L		Het
Zfp445	T	C	9: 122,685,788 (GRCm39)	N251D	probably damaging	Het
Zfp683	A	T	4: 133,782,965 (GRCm39)	D143V	probably benign	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
R5290:Gabrp	UTSW	11	33,517,310 (GRCm39)	missense	probably damaging	0.99
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
Z1176:Gabrp	UTSW	11	33,502,673 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GACTTCCAAATGTGCCCACC -3'
(R):5'- TGACCAGCCAGATGATCGAG -3'

Sequencing Primer
(F):5'- CACCTTAGTGGGGATAAGATCC -3'
(R):5'- TGTTCATGGAACACCAGCATG -3'

Posted On

2022-09-12