Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Or2d4'

84174

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: 0.067) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

106543274-106547519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106543748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 153 (I153M)

Ref Sequence

ENSEMBL: ENSMUSP00000062956 (fasta)

Gene Model

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

AlphaFold

Q9EP55

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055923
AA Change: I153M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062956
Gene: ENSMUSG00000045581
AA Change: I153M

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh9a1	T	C	1: 167,183,354 (GRCm39)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,612,566 (GRCm39)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,475,328 (GRCm39)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,358,514 (GRCm39)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,242,125 (GRCm39)	K892E	probably benign	Het
Bltp1	T	A	3: 37,057,908 (GRCm39)	V3166E	possibly damaging	Het
Bpnt1	G	A	1: 185,086,218 (GRCm39)	W261*	probably null	Het
Calu	A	G	6: 29,356,552 (GRCm39)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 96,264,885 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,605,405 (GRCm39)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,831,033 (GRCm39)	K290R	probably damaging	Het
Cep131	G	A	11: 119,967,835 (GRCm39)	A140V	possibly damaging	Het
Cfap251	A	G	5: 123,418,015 (GRCm39)	I81M	possibly damaging	Het
Chn1	A	T	2: 73,462,096 (GRCm39)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,655,295 (GRCm39)		probably benign	Het
Crispld1	A	T	1: 17,817,025 (GRCm39)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,596,895 (GRCm39)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,015,043 (GRCm39)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,785,835 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,030,557 (GRCm39)	I299N	unknown	Het
Dll1	A	G	17: 15,588,768 (GRCm39)	Y636H	probably damaging	Het
Eng	A	T	2: 32,559,544 (GRCm39)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,578,324 (GRCm39)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,547,043 (GRCm39)	T461S	probably benign	Het
Gbf1	T	C	19: 46,268,434 (GRCm39)	Y1269H	probably damaging	Het
Gm5852	A	G	3: 93,635,086 (GRCm39)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,330,052 (GRCm39)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,182,229 (GRCm39)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,432,472 (GRCm39)	C842S	probably damaging	Het
Iws1	A	G	18: 32,216,519 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,591,089 (GRCm39)	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,298,751 (GRCm39)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,720,393 (GRCm39)	T3865A	unknown	Het
Lgr5	T	C	10: 115,288,997 (GRCm39)	K477R	probably damaging	Het
Ly75	A	T	2: 60,206,351 (GRCm39)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,675,655 (GRCm39)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,017,348 (GRCm39)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,864,202 (GRCm39)	D456G	probably benign	Het
Mstn	A	G	1: 53,105,689 (GRCm39)	T344A	possibly damaging	Het
Npr1	T	A	3: 90,370,543 (GRCm39)	I308F	possibly damaging	Het
Oasl1	G	A	5: 115,075,466 (GRCm39)	V509M	probably benign	Het
Obscn	T	C	11: 58,924,583 (GRCm39)	M5727V	probably benign	Het
Or4c114	T	A	2: 88,904,545 (GRCm39)	I297F	probably benign	Het
Or4k15c	T	A	14: 50,321,404 (GRCm39)	T245S	probably benign	Het
Or5an1c	A	G	19: 12,218,891 (GRCm39)	S45P	probably damaging	Het
Pcgf1	T	C	6: 83,055,398 (GRCm39)	I11T	possibly damaging	Het
Phactr3	T	C	2: 177,924,893 (GRCm39)	V276A	probably benign	Het
Pla2g6	A	T	15: 79,202,168 (GRCm39)	M1K	probably null	Het
Plec	T	C	15: 76,074,728 (GRCm39)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,326,626 (GRCm39)	A187S	possibly damaging	Het
Polq	A	T	16: 36,892,184 (GRCm39)		probably benign	Het
Pramel51	T	C	12: 88,143,202 (GRCm39)	K139E	probably benign	Het
Prss39	A	G	1: 34,541,216 (GRCm39)	D240G	probably benign	Het
Ptpn12	A	T	5: 21,203,553 (GRCm39)	Y408*	probably null	Het
Ptprt	A	G	2: 162,109,999 (GRCm39)		probably benign	Het
Rnf6	A	T	5: 146,152,931 (GRCm39)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,866,090 (GRCm39)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,113,491 (GRCm39)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,182,012 (GRCm39)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,738,285 (GRCm39)	T527A	probably damaging	Het
Smg9	T	C	7: 24,120,691 (GRCm39)		probably null	Het
Snx25	A	G	8: 46,558,197 (GRCm39)	L270P	probably damaging	Het
Ssh1	G	T	5: 114,096,883 (GRCm39)	T165N	probably benign	Het
Stk24	T	A	14: 121,540,218 (GRCm39)	E127V	probably damaging	Het
Suco	A	G	1: 161,661,689 (GRCm39)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,366,506 (GRCm39)		probably benign	Het
Tbcel	A	T	9: 42,355,817 (GRCm39)	L114Q	possibly damaging	Het
Trpm1	A	G	7: 63,884,767 (GRCm39)	D816G	probably benign	Het
Uhrf1	G	A	17: 56,625,250 (GRCm39)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,095,367 (GRCm39)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,691,201 (GRCm39)	M6T	probably benign	Het
Vmn2r59	C	T	7: 41,661,983 (GRCm39)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,239 (GRCm39)	H367N	probably benign	Het
Xpo6	A	G	7: 125,723,553 (GRCm39)	V585A	probably benign	Het

Other mutations in Or2d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Or2d4	APN	7	106,543,546 (GRCm39)	missense	probably damaging	1.00
IGL02041:Or2d4	APN	7	106,543,320 (GRCm39)	missense	possibly damaging	0.78
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

2013-11-11