Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Olfr867'

174976

Institutional Source

Beutler Lab

Gene Symbol

Olfr867

Ensembl Gene

ENSMUSG00000044454

Gene Name

olfactory receptor 867

Synonyms

MOR143-2, GA_x6K02T2PVTD-13795933-13794938

MMRRC Submission

039662-MU

Accession Numbers

Essential gene?

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

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20050955-20057562 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20055382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 27 (L27P)

Ref Sequence

ENSEMBL: ENSMUSP00000150378 (fasta)

Gene Model

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

AlphaFold

Q7TRF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060780
AA Change: L27P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057469
Gene: ENSMUSG00000044454
AA Change: L27P

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

probably damaging
Transcript: ENSMUST00000216538
AA Change: L27P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,431,668	Y655H	probably damaging	Het
Abca8b	T	A	11: 109,967,121	M605L	probably benign	Het
Abcc5	A	T	16: 20,365,817	S1031T	probably damaging	Het
Acot7	T	A	4: 152,186,291	C31S	probably benign	Het
Acss3	A	T	10: 106,937,402		probably null	Het
Adipor1	T	C	1: 134,424,064	F83S	possibly damaging	Het
Agrn	G	A	4: 156,172,860	S1171L	probably damaging	Het
Arhgap5	T	A	12: 52,517,376	C377S	probably benign	Het
Arid4b	T	A	13: 14,187,114	V721D	probably damaging	Het
Aspm	G	A	1: 139,481,039	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 101,055,554	L791Q	probably damaging	Het
Car11	A	G	7: 45,701,307	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,139,372	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,575,910	R64W	probably damaging	Het
Cfap43	T	A	19: 47,751,088	K1325N	probably damaging	Het
Dars2	G	A	1: 161,054,044	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,150,697	T859I	probably benign	Het
Dock7	C	T	4: 98,962,196		probably null	Het
Doxl2	T	A	6: 48,975,171	L10Q	probably damaging	Het
Efcab6	A	G	15: 83,947,638	V570A	probably benign	Het
Fermt1	T	A	2: 132,922,831	I369F	probably damaging	Het
Fras1	C	A	5: 96,709,978	P2044T	possibly damaging	Het
Fras1	A	G	5: 96,713,990	Y2161C	probably damaging	Het
Gucy1a1	T	C	3: 82,102,055	I549V	probably benign	Het
Hspg2	G	A	4: 137,518,971	S1020N	probably benign	Het
Kif21a	A	G	15: 90,942,175	S1360P	probably damaging	Het
Lrp3	T	C	7: 35,203,925	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,237,388	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,910,763	L84P	probably damaging	Het
Muc2	C	G	7: 141,697,162	C672W	probably damaging	Het
Mvp	A	T	7: 127,001,673	V52E	probably damaging	Het
Ndrg2	T	C	14: 51,906,963	T269A	probably damaging	Het
Notch2	T	A	3: 98,111,575	D684E	probably damaging	Het
Nup205	A	G	6: 35,191,943	D316G	probably benign	Het
Olfr1126	T	A	2: 87,457,672	I169K	probably damaging	Het
Olfr1396	T	C	11: 49,113,244	M161V	probably benign	Het
Pcsk1	A	T	13: 75,126,852	D520V	probably benign	Het
Pik3cg	A	T	12: 32,194,742	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,133,433	D359V	probably benign	Het
Ppih	T	C	4: 119,318,582	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,068,891	E96G	possibly damaging	Het
Retreg3	C	A	11: 101,102,049	M1I	probably null	Het
Rfpl4	C	T	7: 5,115,410	V54I	possibly damaging	Het
Rif1	T	C	2: 52,103,640	I855T	probably benign	Het
Rrm1	T	A	7: 102,468,347	I748N	probably damaging	Het
Sap130	T	A	18: 31,674,464	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,019,377	I18F	probably damaging	Het
Skor2	A	G	18: 76,858,804	N74D	unknown	Het
Slc17a6	C	A	7: 51,661,460	F307L	probably benign	Het
Slc25a13	G	A	6: 6,096,675	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,371,799	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,649,241	T123S	probably damaging	Het
Slc9a5	C	A	8: 105,368,123	T782K	possibly damaging	Het
Spata48	C	A	11: 11,488,644		probably benign	Het
Sppl2c	C	A	11: 104,187,169	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,488,716	K283R	probably benign	Het
Ssr1	C	T	13: 37,989,503		probably null	Het
Stard3nl	T	C	13: 19,372,584		probably null	Het
Timeless	G	T	10: 128,240,624	S134I	probably damaging	Het
Tll1	A	G	8: 64,041,442	F760L	probably damaging	Het
Tspear	A	G	10: 77,870,499	I368V	probably benign	Het
Txnrd2	G	T	16: 18,438,366	W144L	probably damaging	Het
Unc5d	T	C	8: 28,683,206	E668G	probably damaging	Het
Urb1	C	T	16: 90,774,048		probably null	Het
Uts2r	A	G	11: 121,161,207	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,274,389	T239K	probably benign	Het
Vps39	C	T	2: 120,323,625	V630M	probably damaging	Het
Wrn	T	C	8: 33,329,130	T22A	probably benign	Het
Zfp7	T	A	15: 76,881,174	D22E	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
R1689:Olfr867	UTSW	9	20055126	missense	possibly damaging	0.94
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'- TGTGACTGCATGTTCACTAGCATCTTT -3'
(R):5'- ACCACAGCTCAACATTTACTTTTGGACT -3'

Sequencing Primer
(F):5'- CACTAGCATCTTTGGTATTGTCG -3'
(R):5'- CTACACACATTTAAGAATGGTCAGG -3'

Posted On

2014-04-24