Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Gabrp'

444359

Institutional Source

Beutler Lab

Gene Symbol

Gabrp

Ensembl Gene

ENSMUSG00000020159

Gene Name

gamma-aminobutyric acid type A receptor subunit pi

Synonyms

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33500781-33528959 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 33504308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 336 (A336P)

Ref Sequence

ENSEMBL: ENSMUSP00000020366 (fasta)

Gene Model

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

AlphaFold

Q8QZW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020366
AA Change: A336P

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: A336P

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	probably null	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
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'- CAATAAATTTGGGTCAAGGGGCAC -3'
(R):5'- AGCCAGATGATCGAGGTTGG -3'

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

Posted On

2016-11-09