Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Gabrd'

449152

Institutional Source

Beutler Lab

Gene Symbol

Gabrd

Ensembl Gene

ENSMUSG00000029054

Gene Name

gamma-aminobutyric acid (GABA) A receptor, subunit delta

Synonyms

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5818 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

155469436-155482549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155472818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 122 (P122S)

Ref Sequence

ENSEMBL: ENSMUSP00000030925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030925]

AlphaFold

P22933

Predicted Effect

probably damaging
Transcript: ENSMUST00000030925
AA Change: P122S

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

SMART Domains

Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: P122S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Neur_chan_LBD	43	247	9.8e-48	PFAM
Pfam:Neur_chan_memb	254	402	6.5e-34	PFAM
transmembrane domain	426	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150423

Meta Mutation Damage Score

0.9443

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased postpartum depression and anxiety behaviors, lethality of pups due to materal neglect, and increased cued and contextual conditional freezing. [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
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	probably benign	Het

Other mutations in Gabrd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0006:Gabrd	UTSW	4	155,473,058 (GRCm39)	missense	probably damaging	1.00
R0006:Gabrd	UTSW	4	155,473,058 (GRCm39)	missense	probably damaging	1.00
R0569:Gabrd	UTSW	4	155,469,880 (GRCm39)	missense	probably damaging	1.00
R1826:Gabrd	UTSW	4	155,470,943 (GRCm39)	missense	probably damaging	1.00
R4387:Gabrd	UTSW	4	155,473,389 (GRCm39)	critical splice donor site	probably null
R5071:Gabrd	UTSW	4	155,471,619 (GRCm39)	missense	probably damaging	1.00
R5650:Gabrd	UTSW	4	155,473,081 (GRCm39)	missense	probably damaging	1.00
R6045:Gabrd	UTSW	4	155,470,931 (GRCm39)	missense	possibly damaging	0.82
R6301:Gabrd	UTSW	4	155,471,724 (GRCm39)	missense	probably damaging	0.96
R7064:Gabrd	UTSW	4	155,472,803 (GRCm39)	missense	probably damaging	1.00
R7146:Gabrd	UTSW	4	155,469,863 (GRCm39)	missense	probably benign
R7426:Gabrd	UTSW	4	155,469,970 (GRCm39)	missense	possibly damaging	0.81
R7451:Gabrd	UTSW	4	155,472,916 (GRCm39)	missense	possibly damaging	0.72
R7732:Gabrd	UTSW	4	155,470,075 (GRCm39)	missense	probably benign	0.00
R7784:Gabrd	UTSW	4	155,473,389 (GRCm39)	critical splice donor site	probably null
R8500:Gabrd	UTSW	4	155,470,148 (GRCm39)	missense	probably benign	0.00
R9118:Gabrd	UTSW	4	155,470,475 (GRCm39)	missense	possibly damaging	0.51
R9153:Gabrd	UTSW	4	155,470,496 (GRCm39)	missense	probably damaging	1.00
R9449:Gabrd	UTSW	4	155,472,803 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGCTACCATCATGTATCTG -3'
(R):5'- TCAATCGGCTCTCTGGGTTG -3'

Sequencing Primer
(F):5'- GCTACCATCATGTATCTGTGTGG -3'
(R):5'- CTCTCTGGGTTGTGTGCCATC -3'

Posted On

2016-12-20