Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Olfr867'

189577

Institutional Source

Beutler Lab

Gene Symbol

Olfr867

Ensembl Gene

ENSMUSG00000044454

Gene Name

olfactory receptor 867

Synonyms

MOR143-2, GA_x6K02T2PVTD-13795933-13794938

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20050955-20057562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20055126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 112 (N112K)

Ref Sequence

ENSEMBL: ENSMUSP00000150378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060780] [ENSMUST00000212098] [ENSMUST00000216538]

AlphaFold

Q7TRF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060780
AA Change: N112K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: N112K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.2e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	301	1.6e-6	PFAM
Pfam:7tm_1	41	290	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216538
AA Change: N112K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107		probably null	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	probably damaging	Het

Other mutations in Olfr867

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Olfr867	APN	9	20054900	missense	probably benign	0.01
IGL03130:Olfr867	APN	9	20055372	missense	probably benign	0.34
R1034:Olfr867	UTSW	9	20055365	missense	probably benign	0.02
R1238:Olfr867	UTSW	9	20055461	start codon destroyed	probably benign	0.12
R1412:Olfr867	UTSW	9	20055415	missense	possibly damaging	0.65
R1625:Olfr867	UTSW	9	20055382	missense	probably damaging	1.00
R2060:Olfr867	UTSW	9	20054596	missense	probably damaging	1.00
R2204:Olfr867	UTSW	9	20055211	missense	possibly damaging	0.74
R2350:Olfr867	UTSW	9	20055088	missense	probably damaging	1.00
R3901:Olfr867	UTSW	9	20054873	missense	probably benign	0.00
R5637:Olfr867	UTSW	9	20054983	missense	possibly damaging	0.80
R6084:Olfr867	UTSW	9	20054883	missense	possibly damaging	0.71
R6150:Olfr867	UTSW	9	20054874	missense	probably benign	0.22
R6602:Olfr867	UTSW	9	20055046	missense	probably benign	0.01
R6902:Olfr867	UTSW	9	20055374	missense	possibly damaging	0.47
R6946:Olfr867	UTSW	9	20055374	missense	possibly damaging	0.47
R7085:Olfr867	UTSW	9	20054936	missense	probably benign	0.37
R7678:Olfr867	UTSW	9	20054605	missense	probably damaging	1.00
R8034:Olfr867	UTSW	9	20055005	missense	probably benign	0.01
R9194:Olfr867	UTSW	9	20055247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTGAGAACTTGAGCCAGTTCAC -3'
(R):5'- TGTCCATGTATCTGGTCACGCTGC -3'

Sequencing Primer
(F):5'- ACTTGAGCCAGTTCACAGAAG -3'
(R):5'- CACGCTGCTTGGGAATTTG -3'

Posted On

2014-05-14