Mutagenetix > Incidental Mutation

Incidental Mutation 'R9153:Gabrd'

695136

Institutional Source

Beutler Lab

Gene Symbol

Gabrd

Ensembl Gene

ENSMUSG00000029054

Gene Name

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

Synonyms

MMRRC Submission

068940-MU

Accession Numbers

Essential gene?

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

Stock #

R9153 (G1)

Quality Score

173.009

Status

Validated

Chromosome

Chromosomal Location

155469436-155482549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155470496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 319 (V319I)

Ref Sequence

ENSEMBL: ENSMUSP00000030925 (fasta)

Gene Model

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

AlphaFold

P22933

Predicted Effect

probably damaging
Transcript: ENSMUST00000030925
AA Change: V319I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: V319I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,481 (GRCm39)	S711R	possibly damaging	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap13	A	G	7: 75,259,229 (GRCm39)	T618A	probably benign	Het
Ankfn1	G	A	11: 89,302,845 (GRCm39)	R58W	probably damaging	Het
Atp8b5	A	G	4: 43,308,493 (GRCm39)		probably benign	Het
Borcs5	G	T	6: 134,618,108 (GRCm39)		probably benign	Het
C1s1	T	C	6: 124,517,906 (GRCm39)	M25V	possibly damaging	Het
Canx	A	T	11: 50,188,162 (GRCm39)	D527E	probably benign	Het
Ccdc154	G	A	17: 25,382,152 (GRCm39)	D24N	probably damaging	Het
Ccnt1	G	A	15: 98,441,159 (GRCm39)	T703I	probably benign	Het
Cd46	T	C	1: 194,774,479 (GRCm39)	S19G	possibly damaging	Het
Cdc25b	G	A	2: 131,034,564 (GRCm39)	E264K	possibly damaging	Het
Cdhr17	A	T	5: 17,040,916 (GRCm39)		probably null	Het
Cog5	A	C	12: 31,710,810 (GRCm39)	K63N	possibly damaging	Het
Col28a1	G	A	6: 8,022,765 (GRCm39)	T726I	probably benign	Het
Dhx40	A	G	11: 86,690,365 (GRCm39)	S219P	probably damaging	Het
Dnah12	T	A	14: 26,536,569 (GRCm39)	W2162R	probably damaging	Het
Eef1a2	A	G	2: 180,789,774 (GRCm39)	*464R	probably null	Het
Eif1a	T	A	18: 46,741,036 (GRCm39)	D90E	probably damaging	Het
Fasn	C	T	11: 120,706,496 (GRCm39)	R996Q	possibly damaging	Het
Foxred2	A	G	15: 77,839,787 (GRCm39)		probably null	Het
Frat2	A	G	19: 41,835,806 (GRCm39)	L182P	probably damaging	Het
Fxyd2	G	T	9: 45,319,609 (GRCm39)	V24F	probably damaging	Het
H13	T	G	2: 152,533,788 (GRCm39)	V267G	possibly damaging	Het
Hnf4g	T	C	3: 3,573,378 (GRCm39)		probably benign	Het
Iglon5	T	A	7: 43,125,421 (GRCm39)	T272S	possibly damaging	Het
Iqgap2	T	A	13: 95,844,547 (GRCm39)	M454L	probably benign	Het
Irf8	T	C	8: 121,480,400 (GRCm39)	C304R	probably benign	Het
Itga2	A	G	13: 115,001,941 (GRCm39)	F614L	probably benign	Het
Itgb4	A	C	11: 115,874,879 (GRCm39)	H412P	probably benign	Het
Jarid2	T	C	13: 45,064,678 (GRCm39)	F921S	probably damaging	Het
Kctd13	A	G	7: 126,541,327 (GRCm39)	D189G	probably damaging	Het
Meis2	G	T	2: 115,697,756 (GRCm39)	P381T	probably benign	Het
Mertk	G	T	2: 128,624,487 (GRCm39)	A633S	probably damaging	Het
Morn5	A	G	2: 35,942,993 (GRCm39)	Y31C	probably damaging	Het
Mug2	A	T	6: 122,017,627 (GRCm39)	T455S	possibly damaging	Het
Myo3a	A	G	2: 22,404,744 (GRCm39)	N700S	probably benign	Het
Nisch	T	C	14: 30,896,782 (GRCm39)	T807A	unknown	Het
Nkx1-1	A	T	5: 33,588,703 (GRCm39)	V195E	unknown	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup160	A	G	2: 90,514,429 (GRCm39)	T126A	possibly damaging	Het
Oca2	C	T	7: 55,943,586 (GRCm39)	T253I	probably benign	Het
Odad2	T	C	18: 7,286,733 (GRCm39)	K166R	possibly damaging	Het
Or6c209	T	A	10: 129,483,306 (GRCm39)	I103N	possibly damaging	Het
P4ha1	A	G	10: 59,203,112 (GRCm39)	K435R	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,131 (GRCm39)	N175K	possibly damaging	Het
Per3	A	G	4: 151,111,796 (GRCm39)	L396P	probably benign	Het
Phactr3	A	T	2: 177,925,739 (GRCm39)	E338V	possibly damaging	Het
Plec	G	T	15: 76,064,725 (GRCm39)	R1782S	unknown	Het
Prpf39	A	T	12: 65,106,671 (GRCm39)	Q593L	probably damaging	Het
Ptprq	T	C	10: 107,416,126 (GRCm39)	Y1724C	probably damaging	Het
Pygo1	T	A	9: 72,852,143 (GRCm39)	V110D	possibly damaging	Het
Rasgrf1	T	A	9: 89,826,790 (GRCm39)	L133Q	probably damaging	Het
Rgs10	G	A	7: 127,975,733 (GRCm39)	R145C	probably damaging	Het
Secisbp2	A	G	13: 51,833,855 (GRCm39)	Y665C	possibly damaging	Het
Sel1l3	T	A	5: 53,293,188 (GRCm39)	T843S	probably benign	Het
Senp7	G	A	16: 56,006,486 (GRCm39)	V964I	probably benign	Het
Setd4	T	A	16: 93,384,722 (GRCm39)	D322V	possibly damaging	Het
Sftpc	T	A	14: 70,759,650 (GRCm39)	T90S	probably benign	Het
Shq1	A	T	6: 100,588,738 (GRCm39)	D382E	probably damaging	Het
Sim1	A	G	10: 50,772,029 (GRCm39)	R13G	probably damaging	Het
Slc12a1	T	G	2: 125,002,989 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,805 (GRCm39)	F385S	probably benign	Het
Stk38l	A	G	6: 146,660,048 (GRCm39)	T27A	probably benign	Het
Tasp1	A	G	2: 139,899,327 (GRCm39)	S9P	probably damaging	Het
Tcstv1a	T	A	13: 120,355,290 (GRCm39)	D114V	probably damaging	Het
Tmigd1	A	T	11: 76,795,468 (GRCm39)	R25S	probably benign	Het
Tnrc6a	T	A	7: 122,773,519 (GRCm39)	Y1154N	probably damaging	Het
Tox2	T	C	2: 163,045,091 (GRCm39)	V3A		Het
Ubr1	A	T	2: 120,756,469 (GRCm39)	D719E	probably benign	Het
Ubr3	A	G	2: 69,795,822 (GRCm39)	K923R		Het
Vmn2r12	C	T	5: 109,234,203 (GRCm39)	V670M	probably damaging	Het
Zfp983	T	C	17: 21,876,522 (GRCm39)	S9P	probably benign	Het
Zfp986	A	T	4: 145,626,030 (GRCm39)	H230L	probably damaging	Het
Zscan4f	G	A	7: 11,135,241 (GRCm39)	E216K	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
R5818:Gabrd	UTSW	4	155,472,818 (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
R9449:Gabrd	UTSW	4	155,472,803 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAGCAGAAGAATAATACTTC -3'
(R):5'- TGTCTCATGAGCCTAGGGTG -3'

Sequencing Primer
(F):5'- GAAGAATAATACTTCTTTCTGCTCCC -3'
(R):5'- GGGCTGAAGAACTCCCCTTTC -3'

Posted On

2022-01-20