Mutagenetix > Incidental Mutation

Incidental Mutation 'R5991:Olfr167'

482028

Institutional Source

Beutler Lab

Gene Symbol

Olfr167

Ensembl Gene

ENSMUSG00000045341

Gene Name

olfactory receptor 167

Synonyms

MOR272-1, GA_x54KRFPKG5P-15963726-15962788

MMRRC Submission

044171-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R5991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19509558-19522266 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19514757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 293 (N293S)

Ref Sequence

ENSEMBL: ENSMUSP00000150102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054606] [ENSMUST00000214315]

AlphaFold

Q8VGJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000054606
AA Change: N293S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055344
Gene: ENSMUSG00000045341
AA Change: N293S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	4.8e-46	PFAM
Pfam:7TM_GPCR_Srsx	33	295	1.2e-6	PFAM
Pfam:7tm_1	40	289	1.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214315
AA Change: N293S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217566

Meta Mutation Damage Score

0.5055

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	G	A	8: 111,050,400 (GRCm38)	R683Q	probably damaging	Het
Adam8	T	A	7: 139,990,287 (GRCm38)	H69L	probably damaging	Het
Bbs2	G	T	8: 94,098,286 (GRCm38)	R23S	probably benign	Het
Bod1l	A	T	5: 41,816,863 (GRCm38)	C2369*	probably null	Het
Capn11	G	T	17: 45,659,352 (GRCm38)		probably null	Het
Carmil2	A	G	8: 105,691,391 (GRCm38)	Q679R	probably null	Het
Cep120	T	C	18: 53,721,798 (GRCm38)	I422V	probably benign	Het
Cnot7	A	C	8: 40,495,655 (GRCm38)		probably null	Het
Col1a1	T	C	11: 94,937,919 (GRCm38)	V29A	unknown	Het
Dnttip1	A	T	2: 164,754,180 (GRCm38)	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,880,225 (GRCm38)	V497A	probably benign	Het
Ep300	A	G	15: 81,648,466 (GRCm38)	D1635G	unknown	Het
Ercc5	T	A	1: 44,180,830 (GRCm38)	C1087*	probably null	Het
Fap	A	T	2: 62,518,521 (GRCm38)	M517K	probably damaging	Het
Focad	C	A	4: 88,401,019 (GRCm38)	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,990,468 (GRCm38)	P5515L	probably benign	Het
Gm9733	G	T	3: 15,320,758 (GRCm38)	A28E	probably benign	Het
Gpr158	T	C	2: 21,368,508 (GRCm38)	Y85H	probably damaging	Het
Hc	A	G	2: 35,006,105 (GRCm38)	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,437,983 (GRCm38)	M546I	probably damaging	Het
Jup	T	C	11: 100,379,569 (GRCm38)	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,309,316 (GRCm38)	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,227,865 (GRCm38)	E83G	probably damaging	Het
Lyg2	C	T	1: 37,915,719 (GRCm38)		probably null	Het
Mtmr11	T	A	3: 96,168,589 (GRCm38)		probably null	Het
Myct1	A	T	10: 5,604,426 (GRCm38)	R98*	probably null	Het
Nol11	T	C	11: 107,171,145 (GRCm38)	T612A	probably benign	Het
Olfr1034	A	G	2: 86,046,910 (GRCm38)	I143V	probably benign	Het
Olfr1218	C	T	2: 89,054,782 (GRCm38)	V215I	probably benign	Het
Olfr1314	C	T	2: 112,092,615 (GRCm38)	V29M	probably benign	Het
Olfr32	T	A	2: 90,138,234 (GRCm38)	K302*	probably null	Het
Parp14	G	A	16: 35,841,457 (GRCm38)	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,301,508 (GRCm38)	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,454,467 (GRCm38)	R212W	probably benign	Het
Plin3	T	C	17: 56,286,576 (GRCm38)	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,619,538 (GRCm38)	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Ryr1	G	T	7: 29,104,610 (GRCm38)	N584K	probably damaging	Het
Scmh1	T	C	4: 120,522,620 (GRCm38)	V544A	probably benign	Het
Sdk2	G	A	11: 113,943,254 (GRCm38)	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,259,807 (GRCm38)	L270H	probably damaging	Het
Shoc2	T	A	19: 54,003,049 (GRCm38)	N248K	probably damaging	Het
Slc25a4	T	C	8: 46,209,336 (GRCm38)	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,534,069 (GRCm38)	N403S	possibly damaging	Het
Spink10	T	A	18: 62,657,885 (GRCm38)	W7R	probably null	Het
Ssrp1	A	G	2: 85,042,296 (GRCm38)	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,209,069 (GRCm38)		probably benign	Het
Tead3	A	T	17: 28,334,378 (GRCm38)		probably null	Het
Timd4	A	G	11: 46,843,203 (GRCm38)	*344W	probably null	Het
Tmem181a	T	A	17: 6,289,037 (GRCm38)	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733 (GRCm38)	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,159,655 (GRCm38)	V202L	probably damaging	Het
Vmn1r80	A	G	7: 12,193,496 (GRCm38)	T178A	probably benign	Het
Vps33b	T	A	7: 80,283,414 (GRCm38)		probably null	Het
Zmym6	T	A	4: 127,108,473 (GRCm38)		probably null	Het

Other mutations in Olfr167

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Olfr167	APN	16	19,515,478 (GRCm38)	missense	probably benign	0.01
IGL02115:Olfr167	APN	16	19,515,103 (GRCm38)	missense	probably damaging	1.00
IGL02562:Olfr167	APN	16	19,514,964 (GRCm38)	missense	possibly damaging	0.74
BB008:Olfr167	UTSW	16	19,515,508 (GRCm38)	missense	possibly damaging	0.94
BB018:Olfr167	UTSW	16	19,515,508 (GRCm38)	missense	possibly damaging	0.94
R0366:Olfr167	UTSW	16	19,514,848 (GRCm38)	missense	probably benign	0.13
R0673:Olfr167	UTSW	16	19,515,396 (GRCm38)	missense	probably damaging	1.00
R1187:Olfr167	UTSW	16	19,515,046 (GRCm38)	missense	probably benign	0.01
R1237:Olfr167	UTSW	16	19,515,625 (GRCm38)	missense	probably benign	0.01
R1975:Olfr167	UTSW	16	19,514,836 (GRCm38)	missense	probably damaging	0.99
R1977:Olfr167	UTSW	16	19,514,836 (GRCm38)	missense	probably damaging	0.99
R1997:Olfr167	UTSW	16	19,515,042 (GRCm38)	missense	probably damaging	1.00
R2225:Olfr167	UTSW	16	19,515,246 (GRCm38)	missense	probably benign	0.05
R2226:Olfr167	UTSW	16	19,515,246 (GRCm38)	missense	probably benign	0.05
R4078:Olfr167	UTSW	16	19,515,232 (GRCm38)	missense	possibly damaging	0.76
R5019:Olfr167	UTSW	16	19,515,535 (GRCm38)	missense	probably damaging	0.99
R5071:Olfr167	UTSW	16	19,515,027 (GRCm38)	missense	probably benign	0.00
R5278:Olfr167	UTSW	16	19,515,378 (GRCm38)	nonsense	probably null
R5415:Olfr167	UTSW	16	19,515,246 (GRCm38)	missense	possibly damaging	0.94
R5744:Olfr167	UTSW	16	19,515,336 (GRCm38)	missense	probably benign	0.00
R6151:Olfr167	UTSW	16	19,515,531 (GRCm38)	missense	probably damaging	1.00
R6540:Olfr167	UTSW	16	19,514,821 (GRCm38)	missense	probably benign
R7014:Olfr167	UTSW	16	19,515,456 (GRCm38)	missense	probably benign	0.20
R7145:Olfr167	UTSW	16	19,514,899 (GRCm38)	missense	probably damaging	0.99
R7535:Olfr167	UTSW	16	19,514,794 (GRCm38)	missense	probably damaging	1.00
R7677:Olfr167	UTSW	16	19,514,928 (GRCm38)	missense	probably benign	0.42
R7715:Olfr167	UTSW	16	19,514,730 (GRCm38)	missense	probably benign	0.00
R7931:Olfr167	UTSW	16	19,515,508 (GRCm38)	missense	possibly damaging	0.94
R8137:Olfr167	UTSW	16	19,515,096 (GRCm38)	missense	possibly damaging	0.89
R8671:Olfr167	UTSW	16	19,515,054 (GRCm38)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TTAAGAGATCGATCCGAGTACTTAACC -3'
(R):5'- CTACCGTATGCATTCTAGGGCG -3'

Sequencing Primer
(F):5'- TCTGGATTCACGGAAGCA -3'
(R):5'- AAGAAGAAGGCCTATTCTACCTG -3'

Posted On

2017-06-26