Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Olfr71'

253693

Institutional Source

Beutler Lab

Gene Symbol

Olfr71

Ensembl Gene

ENSMUSG00000046450

Gene Name

olfactory receptor 71

Synonyms

GA_x6K02T2N78B-16230286-16231224, mOR17, MOR262-4

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43704562-43710255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43706458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 37 (V37L)

Ref Sequence

ENSEMBL: ENSMUSP00000149725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055401] [ENSMUST00000107862] [ENSMUST00000217544]

AlphaFold

Q9QZ18

Predicted Effect

probably benign
Transcript: ENSMUST00000055401
AA Change: V37L

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: V37L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-34	PFAM
Pfam:7tm_4	139	283	4.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107862
AA Change: V37L

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: V37L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-52	PFAM
Pfam:7tm_1	41	290	7.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217544
AA Change: V37L

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176 (GRCm38)	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850 (GRCm38)	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442 (GRCm38)	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260 (GRCm38)		probably null	Het
Armc2	C	T	10: 41,966,700 (GRCm38)		probably null	Het
Atp6v1g1	A	G	4: 63,550,021 (GRCm38)	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419 (GRCm38)	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240 (GRCm38)		probably benign	Het
Csmd2	T	C	4: 128,557,718 (GRCm38)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301 (GRCm38)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362 (GRCm38)	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644 (GRCm38)		probably benign	Het
Dhx57	A	T	17: 80,251,376 (GRCm38)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767 (GRCm38)		probably null	Het
Eif4enif1	C	T	11: 3,242,586 (GRCm38)	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401 (GRCm38)	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190 (GRCm38)	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247 (GRCm38)	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979 (GRCm38)	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492 (GRCm38)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929 (GRCm38)	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006 (GRCm38)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hmcn1	A	T	1: 150,738,716 (GRCm38)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861 (GRCm38)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498 (GRCm38)	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813 (GRCm38)	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081 (GRCm38)	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682 (GRCm38)	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935 (GRCm38)	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524 (GRCm38)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723 (GRCm38)	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296 (GRCm38)	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149 (GRCm38)	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667 (GRCm38)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm38)	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565 (GRCm38)	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584 (GRCm38)	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030 (GRCm38)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337 (GRCm38)	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243 (GRCm38)	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937 (GRCm38)	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196 (GRCm38)	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013 (GRCm38)	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848 (GRCm38)	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526 (GRCm38)	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285 (GRCm38)	I127V	possibly damaging	Het
Ostc	T	C	3: 130,703,508 (GRCm38)	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751 (GRCm38)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665 (GRCm38)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471 (GRCm38)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834 (GRCm38)	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156 (GRCm38)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503 (GRCm38)	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678 (GRCm38)	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464 (GRCm38)	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170 (GRCm38)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055 (GRCm38)	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129 (GRCm38)	I13V	probably benign	Het
Reln	C	T	5: 22,049,791 (GRCm38)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405 (GRCm38)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569 (GRCm38)	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419 (GRCm38)		probably benign	Het
Slc39a8	T	A	3: 135,886,793 (GRCm38)		probably null	Het
Sppl2c	C	T	11: 104,187,315 (GRCm38)	P314S	probably benign	Het
St5	A	T	7: 109,557,430 (GRCm38)	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750 (GRCm38)		probably null	Het
Ugt1a1	AT	A	1: 88,212,371 (GRCm38)		probably null	Het
Vmn2r68	A	C	7: 85,233,626 (GRCm38)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019 (GRCm38)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242 (GRCm38)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078 (GRCm38)	E124D	probably benign	Het

Other mutations in Olfr71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Olfr71	APN	4	43,706,172 (GRCm38)	missense	probably damaging	1.00
PIT4453001:Olfr71	UTSW	4	43,706,464 (GRCm38)	missense	probably damaging	1.00
R0597:Olfr71	UTSW	4	43,706,592 (GRCm38)	splice site	probably null
R0610:Olfr71	UTSW	4	43,706,400 (GRCm38)	missense	possibly damaging	0.69
R1588:Olfr71	UTSW	4	43,705,923 (GRCm38)	missense	probably damaging	0.98
R1619:Olfr71	UTSW	4	43,706,292 (GRCm38)	missense	probably damaging	1.00
R1779:Olfr71	UTSW	4	43,706,041 (GRCm38)	missense	probably damaging	1.00
R2871:Olfr71	UTSW	4	43,706,458 (GRCm38)	missense	probably benign	0.30
R4723:Olfr71	UTSW	4	43,705,785 (GRCm38)	missense	probably damaging	1.00
R4891:Olfr71	UTSW	4	43,706,194 (GRCm38)	missense	probably damaging	0.99
R5049:Olfr71	UTSW	4	43,706,259 (GRCm38)	missense	probably damaging	1.00
R5151:Olfr71	UTSW	4	43,706,518 (GRCm38)	missense	probably damaging	0.99
R5491:Olfr71	UTSW	4	43,705,990 (GRCm38)	missense	probably damaging	1.00
R5521:Olfr71	UTSW	4	43,705,788 (GRCm38)	missense	possibly damaging	0.88
R6225:Olfr71	UTSW	4	43,705,698 (GRCm38)	missense	probably damaging	1.00
R6518:Olfr71	UTSW	4	43,706,334 (GRCm38)	missense	probably benign	0.05
R6883:Olfr71	UTSW	4	43,705,723 (GRCm38)	missense	possibly damaging	0.93
R7185:Olfr71	UTSW	4	43,706,082 (GRCm38)	missense	possibly damaging	0.82
R7339:Olfr71	UTSW	4	43,706,080 (GRCm38)	missense	probably benign	0.05
R7502:Olfr71	UTSW	4	43,706,316 (GRCm38)	missense	probably damaging	0.97
R8052:Olfr71	UTSW	4	43,705,884 (GRCm38)	missense	probably damaging	0.97
R8797:Olfr71	UTSW	4	43,706,455 (GRCm38)	missense	probably damaging	1.00
R9701:Olfr71	UTSW	4	43,705,793 (GRCm38)	missense	probably benign	0.00
X0017:Olfr71	UTSW	4	43,705,990 (GRCm38)	missense	probably damaging	1.00
X0021:Olfr71	UTSW	4	43,706,326 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAGAGGCTCAGACACATC -3'
(R):5'- TGGCCAAGCTGGAAAAGACC -3'

Sequencing Primer
(F):5'- GACACATCTGGACGGCACAG -3'
(R):5'- TGGAAAAGACCTTAACCACCTCTGTG -3'

Posted On

2014-12-04