Mutagenetix > Incidental Mutation

Incidental Mutation 'R9449:Gabrd'

714123

Institutional Source

Beutler Lab

Gene Symbol

Gabrd

Ensembl Gene

ENSMUSG00000029054

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155469436-155482549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155472803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 127 (V127L)

Ref Sequence

ENSEMBL: ENSMUSP00000030925 (fasta)

Gene Model

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

AlphaFold

P22933

Predicted Effect

probably damaging
Transcript: ENSMUST00000030925
AA Change: V127L

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

SMART Domains

Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: V127L

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: 99.6%
20x: 98.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aarsd1	A	C	11: 101,301,597 (GRCm39)	S262A	probably benign	Het
Abhd17c	A	G	7: 83,763,637 (GRCm39)	Y189H	probably damaging	Het
Adam33	T	C	2: 130,895,606 (GRCm39)	R570G	possibly damaging	Het
Alpk2	G	A	18: 65,424,464 (GRCm39)	R1441W	probably damaging	Het
Arhgap21	A	G	2: 20,885,464 (GRCm39)	V581A	probably benign	Het
Bcat2	T	C	7: 45,234,980 (GRCm39)	V226A	possibly damaging	Het
Cdh10	A	G	15: 19,013,521 (GRCm39)	N707S	possibly damaging	Het
Chd9	T	C	8: 91,659,174 (GRCm39)	F45L	unknown	Het
Clec1a	T	C	6: 129,428,606 (GRCm39)	T25A	probably benign	Het
Cps1	T	C	1: 67,259,671 (GRCm39)	F1338L	probably damaging	Het
Cthrc1	A	G	15: 38,947,868 (GRCm39)	T196A	probably benign	Het
Ctsm	A	T	13: 61,686,299 (GRCm39)	V228D	probably damaging	Het
Dennd3	A	T	15: 73,429,477 (GRCm39)	D920V	probably damaging	Het
Dnah17	A	G	11: 117,987,452 (GRCm39)	I1286T	probably benign	Het
Dnah3	T	A	7: 119,551,473 (GRCm39)	T2949S	probably benign	Het
Dram1	C	T	10: 88,192,703 (GRCm39)	V28M	probably benign	Het
Eml5	A	G	12: 98,827,554 (GRCm39)	Y559H	probably damaging	Het
Ermard	C	T	17: 15,273,554 (GRCm39)	R380C	possibly damaging	Het
Fam181a	A	G	12: 103,282,107 (GRCm39)	D4G	probably damaging	Het
Galnt12	T	A	4: 47,104,163 (GRCm39)	Y140*	probably null	Het
Gpr161	A	T	1: 165,146,389 (GRCm39)	K442*	probably null	Het
Haus6	A	T	4: 86,513,665 (GRCm39)	N332K	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Itsn1	T	A	16: 91,625,264 (GRCm39)	*622R	probably null	Het
Kcna2	T	A	3: 107,012,887 (GRCm39)	Y489*	probably null	Het
Limk1	A	G	5: 134,701,864 (GRCm39)		probably null	Het
Manba	A	T	3: 135,255,079 (GRCm39)	D479V	probably benign	Het
Myh6	A	T	14: 55,189,779 (GRCm39)	I1089N	possibly damaging	Het
Npas4	T	A	19: 5,038,492 (GRCm39)	D142V	probably damaging	Het
Nr4a1	T	C	15: 101,168,053 (GRCm39)	F30L	probably benign	Het
Numbl	C	T	7: 26,976,327 (GRCm39)	R336C		Het
Or10x4	G	A	1: 174,218,742 (GRCm39)	A36T	probably benign	Het
Or5p4	T	C	7: 107,680,040 (GRCm39)	I13T		Het
Parp9	T	C	16: 35,777,234 (GRCm39)	S393P	probably damaging	Het
Pcdha11	A	G	18: 37,145,484 (GRCm39)	E525G	probably damaging	Het
Pdia2	T	C	17: 26,416,174 (GRCm39)	T298A	probably benign	Het
Per3	G	A	4: 151,094,945 (GRCm39)	T946I	probably benign	Het
Pla2r1	A	T	2: 60,258,902 (GRCm39)	V1162D	probably damaging	Het
Plxnd1	T	A	6: 115,932,730 (GRCm39)	N1917Y	probably damaging	Het
Pole3	A	T	4: 62,442,277 (GRCm39)	D114E	unknown	Het
Ppil3	T	C	1: 58,470,397 (GRCm39)	D151G	probably benign	Het
Psd3	A	T	8: 68,165,833 (GRCm39)	M365K	unknown	Het
Psme2b	T	G	11: 48,836,566 (GRCm39)	H127P	probably damaging	Het
Ric8a	C	G	7: 140,437,393 (GRCm39)	R4G	probably benign	Het
Rock2	A	T	12: 17,027,763 (GRCm39)	D1360V	probably damaging	Het
Simc1	A	G	13: 54,674,192 (GRCm39)	T847A	probably benign	Het
Slc12a1	T	A	2: 125,028,144 (GRCm39)	V480E	probably damaging	Het
Slc32a1	T	C	2: 158,456,241 (GRCm39)	F299L	probably benign	Het
Slc44a2	A	G	9: 21,258,333 (GRCm39)	Y500C		Het
Ssbp2	A	G	13: 91,823,157 (GRCm39)	D192G	probably benign	Het
Stat5b	T	C	11: 100,681,674 (GRCm39)	K527E	probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Usp50	A	G	2: 126,619,817 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,053 (GRCm39)	M70L	probably benign	Het
Vmn1r40	A	G	6: 89,691,854 (GRCm39)	T224A	probably benign	Het
Vmn2r116	A	G	17: 23,605,919 (GRCm39)	D277G	probably benign	Het
Vti1a	T	A	19: 55,612,278 (GRCm39)	I197N	possibly damaging	Het
Zfyve9	C	A	4: 108,576,435 (GRCm39)	L215F	probably damaging	Het
Znrf3	A	T	11: 5,288,710 (GRCm39)	Y19*	probably null	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
R9153:Gabrd	UTSW	4	155,470,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGCTACCATCATGTATCTGTG -3'
(R):5'- TGGTAGGTGCCAGTCAATCG -3'

Sequencing Primer
(F):5'- CTACCATCATGTATCTGTGTGGTG -3'
(R):5'- AGTCAATCGGCTCTCTGGG -3'

Posted On

2022-06-15