Mutagenetix > Incidental Mutation

Incidental Mutation 'R0569:Gabrd'

46294

Institutional Source

Beutler Lab

Gene Symbol

Gabrd

Ensembl Gene

ENSMUSG00000029054

Gene Name

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

Synonyms

MMRRC Submission

038760-MU

Accession Numbers

Essential gene?

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

Stock #

R0569 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

155469436-155482549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155469880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 443 (Y443C)

Ref Sequence

ENSEMBL: ENSMUSP00000030925 (fasta)

Gene Model

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

AlphaFold

P22933

Predicted Effect

probably damaging
Transcript: ENSMUST00000030925
AA Change: Y443C

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

SMART Domains

Protein: ENSMUSP00000030925
Gene: ENSMUSG00000029054
AA Change: Y443C

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

0.9492

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,621,016 (GRCm39)	I572M	possibly damaging	Het
4930447A16Rik	T	C	15: 37,425,863 (GRCm39)	M1T	probably null	Het
4930590J08Rik	C	A	6: 91,919,559 (GRCm39)	C739*	probably null	Het
Adcy1	T	A	11: 7,096,514 (GRCm39)	V634E	probably benign	Het
Ankfy1	T	A	11: 72,644,434 (GRCm39)	H710Q	possibly damaging	Het
Ankrd60	C	T	2: 173,412,859 (GRCm39)	V90M	probably damaging	Het
Asgr2	A	T	11: 69,988,703 (GRCm39)	Q132L	probably benign	Het
Cchcr1	T	A	17: 35,839,865 (GRCm39)		probably null	Het
Ces1h	T	C	8: 94,078,774 (GRCm39)	K523E	unknown	Het
Clec3a	G	T	8: 115,152,476 (GRCm39)	G161C	probably damaging	Het
Cracr2b	G	A	7: 141,044,848 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,597,160 (GRCm39)	L17F	probably damaging	Het
Dhx29	T	A	13: 113,084,748 (GRCm39)	N655K	probably benign	Het
Dst	C	A	1: 34,332,508 (GRCm39)	L4748I	probably damaging	Het
Eif2b5	G	C	16: 20,321,303 (GRCm39)	L285F	probably benign	Het
Enox1	T	A	14: 77,875,117 (GRCm39)	D441E	probably damaging	Het
Fam110a	T	C	2: 151,812,404 (GRCm39)	E122G	probably damaging	Het
Fam161b	T	A	12: 84,395,413 (GRCm39)	E510V	probably damaging	Het
Gcn1	T	G	5: 115,733,118 (GRCm39)	S1052A	probably benign	Het
Gnptab	A	G	10: 88,264,419 (GRCm39)	E279G	possibly damaging	Het
Hoxa6	T	A	6: 52,185,163 (GRCm39)		probably null	Het
Ibtk	T	A	9: 85,590,234 (GRCm39)		probably benign	Het
Il6ra	A	T	3: 89,785,149 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,032 (GRCm39)		probably benign	Het
Kcnk2	A	C	1: 189,071,998 (GRCm39)	L110R	probably damaging	Het
Knl1	T	A	2: 118,927,916 (GRCm39)	V1919D	possibly damaging	Het
Lrp1b	A	T	2: 40,779,251 (GRCm39)	L2597Q	probably benign	Het
Magi3	A	G	3: 103,923,358 (GRCm39)	S1120P	probably benign	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcat	C	T	15: 83,433,449 (GRCm39)	R198H	probably benign	Het
Mnd1	A	G	3: 84,012,286 (GRCm39)	V141A	probably benign	Het
Morc1	T	C	16: 48,407,485 (GRCm39)	L667P	probably benign	Het
Mrps6	A	G	16: 91,908,808 (GRCm39)	K125E	possibly damaging	Het
Mst1	T	C	9: 107,959,500 (GRCm39)	F262S	probably damaging	Het
Or5j3	T	G	2: 86,128,941 (GRCm39)	I260M	probably damaging	Het
Or7e178	T	A	9: 20,225,875 (GRCm39)	I114F	probably damaging	Het
Pbsn	C	G	X: 76,897,046 (GRCm39)	G15A	possibly damaging	Het
Pcnx1	T	C	12: 82,038,804 (GRCm39)	I2023T	probably benign	Het
Pds5a	T	G	5: 65,813,744 (GRCm39)	N247T	probably damaging	Het
Peak1	T	C	9: 56,167,373 (GRCm39)	Y185C	probably damaging	Het
Phkb	T	A	8: 86,744,031 (GRCm39)	I560N	probably damaging	Het
Plekhn1	T	C	4: 156,309,658 (GRCm39)	I160V	probably damaging	Het
Rabgap1	T	G	2: 37,379,729 (GRCm39)		probably benign	Het
Rdh10	T	G	1: 16,199,517 (GRCm39)	V241G	probably damaging	Het
Selenow	A	T	7: 15,654,042 (GRCm39)	C37S	probably benign	Het
Sema6a	A	T	18: 47,403,872 (GRCm39)		probably null	Het
Slc12a3	T	C	8: 95,057,153 (GRCm39)		probably null	Het
Slc22a21	T	G	11: 53,842,636 (GRCm39)	M498L	probably benign	Het
Spink5	A	T	18: 44,122,486 (GRCm39)	N317I	probably damaging	Het
Srek1	A	G	13: 103,885,370 (GRCm39)		probably benign	Het
Syt11	A	G	3: 88,655,230 (GRCm39)	V357A	probably benign	Het
Tcof1	T	A	18: 60,962,107 (GRCm39)	K707N	possibly damaging	Het
Tfip11	C	T	5: 112,475,960 (GRCm39)	R42C	probably damaging	Het
Trim39	T	C	17: 36,574,623 (GRCm39)	K260E	probably benign	Het
Ttn	T	C	2: 76,553,663 (GRCm39)	T22658A	possibly damaging	Het
Unc45b	C	T	11: 82,827,638 (GRCm39)		probably benign	Het
Vmn1r236	A	G	17: 21,507,172 (GRCm39)	I97V	probably benign	Het
Vps13c	T	C	9: 67,881,001 (GRCm39)	V657A	probably damaging	Het
Zkscan2	A	G	7: 123,097,898 (GRCm39)	V166A	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
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
R9449:Gabrd	UTSW	4	155,472,803 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCAGCACTAGGCTCAACTTCAG -3'
(R):5'- ATGGATGTGAGGAACGCCATCG -3'

Sequencing Primer
(F):5'- TAGGCTCAACTTCAGGGTCAG -3'
(R):5'- AGTCAGGAGTTGGCTATCTCCC -3'

Posted On

2013-06-11