Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Or4d10'

296434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4d10

Ensembl Gene

ENSMUSG00000067526

Gene Name

olfactory receptor family 4 subfamily D member 10

Synonyms

MOR239-7, GA_x6K02T2RE5P-2433425-2432490, Olfr1425

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

12051059-12051994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12051251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 248 (H248Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087828] [ENSMUST00000207681] [ENSMUST00000214918]

AlphaFold

K7N659

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087828
AA Change: H249Q

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085130
Gene: ENSMUSG00000067526
AA Change: H249Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	303	9.3e-48	PFAM
Pfam:7tm_1	40	286	8.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207681
AA Change: H248Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214918
AA Change: H248Q

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly damaging	Het

Other mutations in Or4d10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Or4d10	APN	19	12,051,421 (GRCm39)	missense	probably benign	0.00
IGL03183:Or4d10	APN	19	12,051,392 (GRCm39)	missense	probably damaging	0.98
R1164:Or4d10	UTSW	19	12,051,605 (GRCm39)	nonsense	probably null
R1866:Or4d10	UTSW	19	12,051,183 (GRCm39)	missense	probably benign	0.03
R3745:Or4d10	UTSW	19	12,051,744 (GRCm39)	missense	probably damaging	1.00
R4364:Or4d10	UTSW	19	12,051,861 (GRCm39)	missense	probably benign	0.13
R4888:Or4d10	UTSW	19	12,051,679 (GRCm39)	missense	probably damaging	1.00
R4962:Or4d10	UTSW	19	12,051,639 (GRCm39)	missense	probably damaging	1.00
R5954:Or4d10	UTSW	19	12,051,447 (GRCm39)	missense	possibly damaging	0.96
R6383:Or4d10	UTSW	19	12,051,727 (GRCm39)	missense	probably damaging	1.00
R6409:Or4d10	UTSW	19	12,052,111 (GRCm39)	start gained	probably benign
R6417:Or4d10	UTSW	19	12,051,324 (GRCm39)	missense	probably benign	0.18
R6420:Or4d10	UTSW	19	12,051,324 (GRCm39)	missense	probably benign	0.18
R7109:Or4d10	UTSW	19	12,051,576 (GRCm39)	missense	probably benign
R7446:Or4d10	UTSW	19	12,051,061 (GRCm39)	makesense	probably null
R7505:Or4d10	UTSW	19	12,051,969 (GRCm39)	missense	possibly damaging	0.88
R9689:Or4d10	UTSW	19	12,051,567 (GRCm39)	missense	possibly damaging	0.90
Z1176:Or4d10	UTSW	19	12,051,274 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4d10	UTSW	19	12,051,204 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16