Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02041:Or2d4'

184766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2d4

Ensembl Gene

ENSMUSG00000045581

Gene Name

olfactory receptor family 2 subfamily D member 4

Synonyms

MOR260-3, Olfr710, GA_x6K02T2PBJ9-9325348-9324416

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02041

Quality Score

Status

Chromosome

Chromosomal Location

106543274-106547519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106543320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 296 (D296G)

Ref Sequence

ENSEMBL: ENSMUSP00000062956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055923]

AlphaFold

Q9EP55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055923
AA Change: D296G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062956
Gene: ENSMUSG00000045581
AA Change: D296G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.1e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.9e-9	PFAM
Pfam:7tm_1	41	290	1.2e-23	PFAM

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,772,674 (GRCm39)	Q28L	probably damaging	Het
Abtb3	G	A	10: 85,223,418 (GRCm39)	D76N	unknown	Het
Afg1l	A	G	10: 42,330,376 (GRCm39)	V97A	probably damaging	Het
Akap6	A	C	12: 53,187,436 (GRCm39)	S1617R	probably damaging	Het
Aldh1a3	T	C	7: 66,057,579 (GRCm39)	N285D	probably damaging	Het
Arhgap20	A	T	9: 51,757,490 (GRCm39)	N494I	possibly damaging	Het
Atg9a	G	T	1: 75,159,748 (GRCm39)	Q712K	possibly damaging	Het
Cdcp2	G	A	4: 106,964,386 (GRCm39)		probably benign	Het
Cds2	T	A	2: 132,136,363 (GRCm39)	I84N	possibly damaging	Het
Clcn3	T	C	8: 61,376,187 (GRCm39)	I596V	probably damaging	Het
Ctxn1	A	G	8: 4,308,514 (GRCm39)	L39P	probably damaging	Het
Efhb	A	T	17: 53,733,287 (GRCm39)	V528D	probably damaging	Het
Fmod	T	G	1: 133,968,001 (GRCm39)	S14A	probably benign	Het
Foxh1	A	G	15: 76,553,120 (GRCm39)	F198S	probably damaging	Het
Gcc2	A	G	10: 58,105,103 (GRCm39)	E77G	probably damaging	Het
Gm5420	G	T	10: 21,566,933 (GRCm39)		noncoding transcript	Het
Gm6434	T	G	7: 25,581,655 (GRCm39)		noncoding transcript	Het
Il1b	A	T	2: 129,211,662 (GRCm39)	N19K	possibly damaging	Het
Lama2	T	A	10: 26,860,322 (GRCm39)	D3055V	probably damaging	Het
Lcn3	G	A	2: 25,655,636 (GRCm39)	V18I	probably benign	Het
Lpcat2	A	G	8: 93,644,809 (GRCm39)	S533G	probably benign	Het
Map4k2	G	A	19: 6,401,348 (GRCm39)	R606Q	probably benign	Het
Mtnr1b	T	C	9: 15,774,589 (GRCm39)	T157A	probably benign	Het
Myo15a	G	A	11: 60,397,689 (GRCm39)	E2705K	probably damaging	Het
Ncf2	A	G	1: 152,711,871 (GRCm39)		probably benign	Het
Nfkbil1	G	A	17: 35,439,934 (GRCm39)	T193M	probably benign	Het
Nmi	T	G	2: 51,850,641 (GRCm39)	K9T	possibly damaging	Het
Or5p69	T	C	7: 107,966,742 (GRCm39)	F15S	probably damaging	Het
Or6c6c	A	G	10: 129,541,104 (GRCm39)	D119G	probably damaging	Het
Osbpl7	T	A	11: 96,951,334 (GRCm39)	C502S	probably benign	Het
Pex5	A	T	6: 124,382,240 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,356,452 (GRCm39)		probably null	Het
Prmt3	C	T	7: 49,478,711 (GRCm39)	T424M	possibly damaging	Het
Rapgef4	G	A	2: 72,029,140 (GRCm39)	G404D	probably damaging	Het
Rbm5	C	T	9: 107,633,045 (GRCm39)		probably benign	Het
Rfc2	T	A	5: 134,623,098 (GRCm39)	F238L	probably benign	Het
Rsl1	A	G	13: 67,324,612 (GRCm39)	E46G	probably damaging	Het
Sall1	A	G	8: 89,758,097 (GRCm39)	F669S	probably damaging	Het
Sipa1l2	A	G	8: 126,218,558 (GRCm39)	S260P	probably benign	Het
Slc26a8	A	G	17: 28,861,225 (GRCm39)	Y820H	probably damaging	Het
Tas2r115	A	G	6: 132,714,430 (GRCm39)	F174L	probably benign	Het
Terb1	A	C	8: 105,221,746 (GRCm39)	C185G	probably damaging	Het
Vmn2r108	A	T	17: 20,683,398 (GRCm39)	V602E	probably damaging	Het
Vmn2r58	T	A	7: 41,514,703 (GRCm39)	I89F	probably damaging	Het
Vps13b	G	T	15: 35,423,391 (GRCm39)	R237L	probably damaging	Het
Zfp865	T	C	7: 5,034,372 (GRCm39)	S786P	probably benign	Het

Other mutations in Or2d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Or2d4	APN	7	106,543,748 (GRCm39)	missense	possibly damaging	0.77
IGL01534:Or2d4	APN	7	106,543,546 (GRCm39)	missense	probably damaging	1.00
IGL02414:Or2d4	APN	7	106,543,965 (GRCm39)	missense	probably benign	0.33
IGL02695:Or2d4	APN	7	106,543,870 (GRCm39)	missense	possibly damaging	0.93
IGL03167:Or2d4	APN	7	106,543,852 (GRCm39)	missense	probably damaging	0.99
IGL03242:Or2d4	APN	7	106,544,125 (GRCm39)	missense	possibly damaging	0.59
R1985:Or2d4	UTSW	7	106,544,133 (GRCm39)	missense	probably benign	0.00
R2234:Or2d4	UTSW	7	106,543,827 (GRCm39)	missense	probably damaging	1.00
R3414:Or2d4	UTSW	7	106,543,383 (GRCm39)	nonsense	probably null
R3731:Or2d4	UTSW	7	106,543,684 (GRCm39)	missense	probably damaging	0.99
R3777:Or2d4	UTSW	7	106,543,519 (GRCm39)	missense	probably benign	0.05
R4646:Or2d4	UTSW	7	106,543,547 (GRCm39)	missense	probably benign	0.01
R4647:Or2d4	UTSW	7	106,543,547 (GRCm39)	missense	probably benign	0.01
R4661:Or2d4	UTSW	7	106,544,074 (GRCm39)	missense	probably damaging	0.98
R4679:Or2d4	UTSW	7	106,544,152 (GRCm39)	missense	probably benign	0.10
R5200:Or2d4	UTSW	7	106,544,187 (GRCm39)	missense	possibly damaging	0.77
R5495:Or2d4	UTSW	7	106,543,699 (GRCm39)	nonsense	probably null
R6744:Or2d4	UTSW	7	106,543,741 (GRCm39)	missense	probably damaging	1.00
R6908:Or2d4	UTSW	7	106,543,839 (GRCm39)	missense	possibly damaging	0.82
R7463:Or2d4	UTSW	7	106,543,380 (GRCm39)	missense	probably damaging	0.99
R7498:Or2d4	UTSW	7	106,543,575 (GRCm39)	missense	possibly damaging	0.93
R8686:Or2d4	UTSW	7	106,543,905 (GRCm39)	missense	probably benign	0.01
R9283:Or2d4	UTSW	7	106,543,806 (GRCm39)	missense	probably benign	0.01
RF003:Or2d4	UTSW	7	106,543,855 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07