Mutagenetix > Incidental Mutation

Incidental Mutation 'R1744:Gabrp'

200600

Institutional Source

Beutler Lab

Gene Symbol

Gabrp

Ensembl Gene

ENSMUSG00000020159

Gene Name

gamma-aminobutyric acid (GABA) A receptor, pi

Synonyms

MMRRC Submission

039776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33550781-33578959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33572462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 28 (V28E)

Ref Sequence

ENSEMBL: ENSMUSP00000020366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020366] [ENSMUST00000135350]

AlphaFold

Q8QZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000020366
AA Change: V28E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020366
Gene: ENSMUSG00000020159
AA Change: V28E

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

Predicted Effect

unknown
Transcript: ENSMUST00000135350
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000120500
Gene: ENSMUSG00000020159
AA Change: V28E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

98% (59/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,794,420 (GRCm38)	E1247G	probably damaging	Het
Bcl2l15	T	A	3: 103,838,540 (GRCm38)	L165Q	probably damaging	Het
Cd163	C	A	6: 124,307,028 (GRCm38)	A53E	possibly damaging	Het
Cemip2	C	A	19: 21,832,137 (GRCm38)	Y960*	probably null	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Clca3a1	G	T	3: 144,746,835 (GRCm38)	A629D	probably damaging	Het
Csde1	T	A	3: 103,050,315 (GRCm38)	S463R	probably benign	Het
Cth	C	G	3: 157,906,268 (GRCm38)	R304P	probably damaging	Het
D7Ertd443e	A	G	7: 134,349,413 (GRCm38)	V177A	probably benign	Het
Ddx56	G	A	11: 6,266,396 (GRCm38)	R189W	probably damaging	Het
Dennd2a	A	T	6: 39,480,251 (GRCm38)	F752L	probably benign	Het
Gpam	T	C	19: 55,074,591 (GRCm38)	E763G	probably damaging	Het
Hars1	G	A	18: 36,770,832 (GRCm38)	R266C	probably benign	Het
Klf7	C	A	1: 64,079,213 (GRCm38)	R75L	possibly damaging	Het
Kmt2d	T	C	15: 98,865,047 (GRCm38)	K281E	probably damaging	Het
Lbx1	T	C	19: 45,234,213 (GRCm38)	K124E	probably damaging	Het
Lcp2	T	C	11: 34,069,911 (GRCm38)		probably null	Het
Mab21l2	T	C	3: 86,546,904 (GRCm38)	E263G	possibly damaging	Het
Macf1	A	T	4: 123,475,853 (GRCm38)	I140K	probably damaging	Het
Mcemp1	G	A	8: 3,666,054 (GRCm38)	A20T	probably damaging	Het
Met	T	C	6: 17,540,646 (GRCm38)	V137A	possibly damaging	Het
Mgat5	T	C	1: 127,479,469 (GRCm38)	F624S	probably damaging	Het
Nutm2	T	C	13: 50,469,354 (GRCm38)	I29T	probably benign	Het
Ociad1	T	C	5: 73,300,719 (GRCm38)		probably null	Het
Ogfod2	G	A	5: 124,114,156 (GRCm38)		probably null	Het
Or6c69	A	C	10: 129,911,393 (GRCm38)	V295G	probably damaging	Het
Or8g4	A	C	9: 39,750,415 (GRCm38)	T10P	probably benign	Het
Otoa	G	A	7: 121,127,776 (GRCm38)		probably benign	Het
Otud3	A	C	4: 138,895,748 (GRCm38)	L394R	probably damaging	Het
Pde5a	T	C	3: 122,747,897 (GRCm38)	V12A	probably damaging	Het
Plec	C	T	15: 76,186,218 (GRCm38)	V931M	probably damaging	Het
Prr27	A	G	5: 87,843,047 (GRCm38)	I173V	possibly damaging	Het
Psg29	T	C	7: 17,210,353 (GRCm38)	C263R	probably damaging	Het
Ptprm	T	C	17: 66,689,366 (GRCm38)	Y1242C	probably damaging	Het
Retsat	C	T	6: 72,606,575 (GRCm38)	R84*	probably null	Het
Rif1	G	A	2: 52,112,392 (GRCm38)	V1953I	possibly damaging	Het
Ros1	A	T	10: 52,123,379 (GRCm38)	N1137K	probably damaging	Het
Scn1a	T	C	2: 66,322,276 (GRCm38)	H787R	probably benign	Het
Sec16a	T	C	2: 26,439,186 (GRCm38)	E939G	probably damaging	Het
Sh2d4a	G	A	8: 68,331,155 (GRCm38)	G247D	possibly damaging	Het
Siglec1	A	G	2: 131,081,299 (GRCm38)	S509P	probably damaging	Het
Slc25a30	A	G	14: 75,763,330 (GRCm38)	I278T	probably damaging	Het
Slc6a20a	C	T	9: 123,662,993 (GRCm38)	V104I	probably benign	Het
Sp110	G	C	1: 85,594,372 (GRCm38)	T70S	probably benign	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Stxbp1	A	G	2: 32,806,719 (GRCm38)		probably null	Het
Tmem132b	T	C	5: 125,778,844 (GRCm38)		probably null	Het
Tnfsf13b	G	A	8: 10,031,661 (GRCm38)		probably null	Het
Trappc6a	A	G	7: 19,514,229 (GRCm38)	E38G	probably damaging	Het
Trps1	T	C	15: 50,661,213 (GRCm38)	D857G	probably damaging	Het
Tspear	T	A	10: 77,864,884 (GRCm38)		probably null	Het
Vmn1r23	A	T	6: 57,925,925 (GRCm38)	N289K	possibly damaging	Het
Zcchc8	G	A	5: 123,700,373 (GRCm38)	Q701*	probably null	Het
Zfp618	A	T	4: 63,086,634 (GRCm38)		probably benign	Het

Other mutations in Gabrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00558:Gabrp	APN	11	33,552,644 (GRCm38)	missense	possibly damaging	0.91
IGL01299:Gabrp	APN	11	33,554,476 (GRCm38)	missense	probably damaging	1.00
IGL01305:Gabrp	APN	11	33,555,055 (GRCm38)	missense	probably damaging	1.00
IGL01686:Gabrp	APN	11	33,552,826 (GRCm38)	nonsense	probably null
IGL01729:Gabrp	APN	11	33,552,689 (GRCm38)	missense	probably damaging	1.00
IGL03031:Gabrp	APN	11	33,554,980 (GRCm38)	missense	probably damaging	1.00
IGL03172:Gabrp	APN	11	33,554,388 (GRCm38)	missense	probably damaging	1.00
IGL03280:Gabrp	APN	11	33,552,616 (GRCm38)	missense	probably benign	0.12
ANU22:Gabrp	UTSW	11	33,555,055 (GRCm38)	missense	probably damaging	1.00
R0265:Gabrp	UTSW	11	33,552,614 (GRCm38)	missense	probably damaging	1.00
R0326:Gabrp	UTSW	11	33,554,362 (GRCm38)	missense	probably damaging	0.99
R4174:Gabrp	UTSW	11	33,568,092 (GRCm38)	missense	probably damaging	1.00
R5043:Gabrp	UTSW	11	33,568,072 (GRCm38)	missense	probably benign	0.00
R5213:Gabrp	UTSW	11	33,567,211 (GRCm38)	critical splice donor site	probably null
R5290:Gabrp	UTSW	11	33,567,310 (GRCm38)	missense	probably damaging	0.99
R5665:Gabrp	UTSW	11	33,554,308 (GRCm38)	missense	possibly damaging	0.56
R6698:Gabrp	UTSW	11	33,557,017 (GRCm38)	missense	probably damaging	1.00
R8711:Gabrp	UTSW	11	33,555,023 (GRCm38)	missense	probably damaging	1.00
R8817:Gabrp	UTSW	11	33,554,464 (GRCm38)	missense	possibly damaging	0.77
R9188:Gabrp	UTSW	11	33,567,252 (GRCm38)	missense	possibly damaging	0.92
R9618:Gabrp	UTSW	11	33,554,342 (GRCm38)	nonsense	probably null
Z1176:Gabrp	UTSW	11	33,552,673 (GRCm38)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAACCAGTTGCCCATCAGGACG -3'
(R):5'- TGGAGGGTTTGCCAATTATCATGAGAG -3'

Sequencing Primer
(F):5'- CATCAGGACGGAGTCAGC -3'
(R):5'- CACAAGGGAGGGCCAATTAA -3'

Posted On

2014-05-23