Mutagenetix > Incidental Mutations

Incidental Mutation 'R1717:Olfr331'

191146

Institutional Source

Beutler Lab

Gene Symbol

Olfr331

Ensembl Gene

ENSMUSG00000058807

Gene Name

olfactory receptor 331

Synonyms

GA_x6K02T2NKPP-912840-913784, MOR275-4

MMRRC Submission

039750-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58501598-58502572 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58502059 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 166 (M166L)

Ref Sequence

ENSEMBL: ENSMUSP00000132693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081743] [ENSMUST00000170501]

Predicted Effect

probably benign
Transcript: ENSMUST00000081743
AA Change: M172L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: M172L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1e-42	PFAM
Pfam:7tm_1	45	299	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170501
AA Change: M166L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: M166L

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:7tm_1	39	292	4.9e-28	PFAM
Pfam:7tm_4	141	285	3.6e-42	PFAM

Meta Mutation Damage Score

0.2476

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,664	D616G	probably damaging	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,793,779		probably null	Het
4930583I09Rik	T	C	17: 64,834,449	N53S	unknown	Het
4933434E20Rik	T	A	3: 90,056,237	S67T	probably benign	Het
9230019H11Rik	A	T	10: 3,125,050		noncoding transcript	Het
Abcc8	T	C	7: 46,115,815	I1127V	possibly damaging	Het
Abcg3	G	A	5: 104,963,555	Q349*	probably null	Het
Adam2	A	G	14: 66,068,558	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap11	C	A	14: 78,513,348	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,293,671	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,638,529	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,633,994		probably null	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,712		probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arvcf	A	G	16: 18,401,569	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,528,797	R521W	probably damaging	Het
Casp16-ps	A	G	17: 23,552,050	I127T	possibly damaging	Het
Cd163	A	G	6: 124,329,588		probably benign	Het
Cdh8	A	T	8: 99,030,705	S754T	probably damaging	Het
Cel	A	G	2: 28,556,777	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,657,320	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,948,392	M989V	unknown	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,216,692	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 95,455,808		probably null	Het
Dact2	A	T	17: 14,197,913	W177R	probably benign	Het
Ddx10	A	G	9: 53,159,953	V680A	probably benign	Het
Eif5	T	A	12: 111,542,217	D215E	probably benign	Het
Evpl	C	T	11: 116,225,492	A817T	probably benign	Het
Fmo6	T	A	1: 162,926,252	R131*	probably null	Het
Fsd2	T	C	7: 81,535,109	T680A	probably benign	Het
Fsip2	T	C	2: 82,974,945	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,108,351		probably null	Het
Galnt9	T	G	5: 110,596,212	I304S	probably benign	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5334	A	C	7: 68,618,977		noncoding transcript	Het
Grcc10	A	T	6: 124,740,513		probably benign	Het
Hmcn1	T	C	1: 150,859,186	T192A	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,220,635	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,671,449	C426S	probably damaging	Het
Lair1	A	G	7: 4,010,789	F153S	probably damaging	Het
Lrp1	T	C	10: 127,556,269	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,563,665	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,850,580	F295S	probably damaging	Het
Meis1	T	A	11: 19,010,608		probably benign	Het
Mkln1	T	A	6: 31,507,644	I156K	probably benign	Het
Mmd2	T	C	5: 142,575,350		probably benign	Het
Morc1	A	G	16: 48,452,477	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,512,670		probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Olfr1111	A	T	2: 87,149,806	L285*	probably null	Het
Olfr1112	A	T	2: 87,191,903	N72I	probably benign	Het
Olfr1509	T	C	14: 52,450,839	V142A	probably benign	Het
Olfr933	C	T	9: 38,976,410	L245F	probably damaging	Het
Pcdha1	T	C	18: 36,932,184	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,436,788	V329E	probably damaging	Het
Pcf11	A	T	7: 92,663,585	D193E	probably benign	Het
Pcsk1	G	C	13: 75,110,828	M240I	probably damaging	Het
Pdc	T	A	1: 150,333,141	I125N	probably damaging	Het
Plch2	C	T	4: 154,998,272	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Riok1	T	A	13: 38,052,950	I389N	probably damaging	Het
Ror1	T	A	4: 100,302,938	S50R	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Siglec1	G	A	2: 131,073,956	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 131,084,012	N258S	probably damaging	Het
Slbp	G	A	5: 33,645,602	A126V	probably benign	Het
Slc12a4	A	T	8: 105,947,571		probably null	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Synpo2	C	A	3: 123,112,554	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,561,645	T374I	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem190	T	C	7: 4,784,133	L112P	probably damaging	Het
Tsc2	C	T	17: 24,597,068	R1715Q	probably damaging	Het
Vmn1r46	T	C	6: 89,976,829	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,793,386	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,403,104	I2799T	probably benign	Het
Zfp105	T	C	9: 122,930,631	S456P	probably damaging	Het

Other mutations in Olfr331

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Olfr331	APN	11	58502194	missense	possibly damaging	0.89
IGL02458:Olfr331	APN	11	58502247	missense	probably benign	0.20
IGL02971:Olfr331	APN	11	58502385	missense	probably damaging	1.00
IGL03346:Olfr331	APN	11	58501755	missense	possibly damaging	0.76
R0416:Olfr331	UTSW	11	58502396	missense	unknown
R1547:Olfr331	UTSW	11	58501825	missense	probably damaging	1.00
R1697:Olfr331	UTSW	11	58501676	missense	probably damaging	1.00
R1721:Olfr331	UTSW	11	58501939	missense	probably damaging	1.00
R2194:Olfr331	UTSW	11	58501642	missense	probably damaging	0.97
R3606:Olfr331	UTSW	11	58502131	missense	possibly damaging	0.49
R4457:Olfr331	UTSW	11	58502118	missense	probably damaging	1.00
R4766:Olfr331	UTSW	11	58501668	missense	probably damaging	1.00
R4858:Olfr331	UTSW	11	58501909	missense	probably damaging	1.00
R5475:Olfr331	UTSW	11	58501605	missense	probably benign	0.10
R5822:Olfr331	UTSW	11	58501638	missense	possibly damaging	0.61
R6337:Olfr331	UTSW	11	58502012	nonsense	probably null
R6416:Olfr331	UTSW	11	58502340	missense	probably damaging	1.00
R7101:Olfr331	UTSW	11	58502553	missense	probably benign	0.00
R7108:Olfr331	UTSW	11	58502554	missense	probably benign
RF035:Olfr331	UTSW	11	58502382	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGAAATGACTGTCACAGGGATG -3'
(R):5'- TGTCACTGTGCCCAAGATGCTC -3'

Sequencing Primer
(F):5'- CTGTCACAGGGATGAGAAGC -3'
(R):5'- CTACCTGACATTAGCAGGGTC -3'

Posted On

2014-05-14