Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Gabra6'

489532

Institutional Source

Beutler Lab

Gene Symbol

Gabra6

Ensembl Gene

ENSMUSG00000020428

Gene Name

gamma-aminobutyric acid type A receptor subunit alpha 6

Synonyms

alpha6, GABA-ARalpha6, Gabra-6

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42197264-42211899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42207350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 245 (I245F)

Ref Sequence

ENSEMBL: ENSMUSP00000126114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020703] [ENSMUST00000109286] [ENSMUST00000155218]

AlphaFold

P16305

Predicted Effect

probably damaging
Transcript: ENSMUST00000020703
AA Change: I235F

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

SMART Domains

Protein: ENSMUSP00000020703
Gene: ENSMUSG00000020428
AA Change: I235F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Neur_chan_LBD	32	230	2.4e-43	PFAM
Pfam:Neur_chan_memb	237	378	9.3e-43	PFAM
transmembrane domain	413	430	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109286
AA Change: I244F

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

SMART Domains

Protein: ENSMUSP00000104909
Gene: ENSMUSG00000020428
AA Change: I244F

Domain	Start	End	E-Value	Type
Pfam:Neur_chan_LBD	31	239	2.4e-53	PFAM
Pfam:Neur_chan_memb	246	387	9.7e-43	PFAM
transmembrane domain	422	439	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155218
AA Change: I245F

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

SMART Domains

Protein: ENSMUSP00000126114
Gene: ENSMUSG00000020428
AA Change: I245F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Neur_chan_LBD	32	240	2e-51	PFAM
Pfam:Neur_chan_memb	247	393	6.3e-35	PFAM
transmembrane domain	423	440	N/A	INTRINSIC

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal cerebellar cytoarchitecture and normal responses to ethanol, pentobarbital and general anesthetics. Mice homozygous for a reporter allele are behaviorally normal and lack a cochlear phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Cox20	A	G	1: 178,149,362 (GRCm39)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,793,811 (GRCm39)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,588,395 (GRCm39)	F298I	probably damaging	Het
Npas2	G	A	1: 39,326,557 (GRCm39)	R14Q	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,456,107 (GRCm39)		probably null	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	possibly damaging	Het

Other mutations in Gabra6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gabra6	APN	11	42,207,850 (GRCm39)	missense	probably damaging	1.00
IGL01553:Gabra6	APN	11	42,206,023 (GRCm39)	missense	probably damaging	1.00
IGL01801:Gabra6	APN	11	42,205,935 (GRCm39)	missense	probably damaging	1.00
IGL02474:Gabra6	APN	11	42,198,244 (GRCm39)	missense	probably benign
IGL03027:Gabra6	APN	11	42,205,980 (GRCm39)	missense	probably damaging	1.00
IGL03111:Gabra6	APN	11	42,207,844 (GRCm39)	missense	probably damaging	1.00
R0121:Gabra6	UTSW	11	42,205,798 (GRCm39)	missense	probably benign
R0206:Gabra6	UTSW	11	42,207,906 (GRCm39)	nonsense	probably null
R0240:Gabra6	UTSW	11	42,205,774 (GRCm39)	missense	probably benign	0.01
R0726:Gabra6	UTSW	11	42,205,954 (GRCm39)	missense	probably damaging	0.98
R0745:Gabra6	UTSW	11	42,207,394 (GRCm39)	missense	probably damaging	0.99
R0751:Gabra6	UTSW	11	42,205,844 (GRCm39)	missense	probably benign	0.00
R0789:Gabra6	UTSW	11	42,205,844 (GRCm39)	missense	probably benign	0.00
R1666:Gabra6	UTSW	11	42,208,461 (GRCm39)	missense	probably damaging	1.00
R1754:Gabra6	UTSW	11	42,207,388 (GRCm39)	missense	probably damaging	1.00
R2317:Gabra6	UTSW	11	42,208,607 (GRCm39)	critical splice acceptor site	probably null
R3605:Gabra6	UTSW	11	42,205,777 (GRCm39)	missense	probably benign	0.00
R4647:Gabra6	UTSW	11	42,198,199 (GRCm39)	missense	probably damaging	1.00
R5566:Gabra6	UTSW	11	42,198,317 (GRCm39)	missense	probably benign
R5929:Gabra6	UTSW	11	42,208,389 (GRCm39)	missense	probably damaging	0.99
R5930:Gabra6	UTSW	11	42,198,268 (GRCm39)	missense	probably benign	0.28
R5931:Gabra6	UTSW	11	42,198,268 (GRCm39)	missense	probably benign	0.28
R7249:Gabra6	UTSW	11	42,208,259 (GRCm39)	missense	probably damaging	1.00
R7759:Gabra6	UTSW	11	42,208,508 (GRCm39)	missense	probably damaging	1.00
R7783:Gabra6	UTSW	11	42,207,289 (GRCm39)	missense	probably damaging	1.00
R7794:Gabra6	UTSW	11	42,211,868 (GRCm39)	splice site	probably null
R7869:Gabra6	UTSW	11	42,207,322 (GRCm39)	missense	possibly damaging	0.96
R7949:Gabra6	UTSW	11	42,207,826 (GRCm39)	missense	probably benign	0.07
R8199:Gabra6	UTSW	11	42,207,280 (GRCm39)	missense	probably damaging	1.00
R8692:Gabra6	UTSW	11	42,210,537 (GRCm39)	missense	probably damaging	1.00
R8954:Gabra6	UTSW	11	42,205,959 (GRCm39)	missense	probably damaging	1.00
R9076:Gabra6	UTSW	11	42,198,289 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCACAGTTGTCAGTATTCACAGC -3'
(R):5'- CTAACTGGTATGTGTCTTTACATCC -3'

Sequencing Primer
(F):5'- CAGTTGTCAGTATTCACAGCAAAATC -3'
(R):5'- CTGGTATGTGTCTTTACATCCAATTG -3'

Posted On

2017-10-10