Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Olfr1176'

318005

Institutional Source

Beutler Lab

Gene Symbol

Olfr1176

Ensembl Gene

ENSMUSG00000050023

Gene Name

olfactory receptor 1176

Synonyms

MOR174-5, GA_x6K02T2Q125-49824309-49825256

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88336721-88342048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88340201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 212 (L212P)

Ref Sequence

ENSEMBL: ENSMUSP00000149943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057439] [ENSMUST00000137895] [ENSMUST00000213778] [ENSMUST00000216713]

AlphaFold

Q8VG40

Predicted Effect

probably damaging
Transcript: ENSMUST00000057439
AA Change: L212P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053353
Gene: ENSMUSG00000050023
AA Change: L212P

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:7tm_4	32	309	5.3e-46	PFAM
Pfam:7tm_1	42	291	4.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137895

Predicted Effect

probably damaging
Transcript: ENSMUST00000213778
AA Change: L212P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216713

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,938,221	P55S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Als2cr12	A	T	1: 58,659,278	V327D	possibly damaging	Het
Arap1	C	A	7: 101,373,015	A8E	probably damaging	Het
Arid1a	A	T	4: 133,753,090	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,644,705	I358T	probably benign	Het
Camkk2	G	A	5: 122,737,512	R492*	probably null	Het
Capn3	T	C	2: 120,463,940	V23A	probably benign	Het
Carm1	T	G	9: 21,580,310	V225G	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc60	C	A	5: 116,146,184	M298I	probably benign	Het
Celsr3	C	T	9: 108,845,817	P2801L	probably benign	Het
Clec4n	T	A	6: 123,230,546	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,221,750	L231V	probably damaging	Het
Csrnp3	T	G	2: 66,023,019	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,111	S318P	probably damaging	Het
Cubn	A	T	2: 13,340,017		probably null	Het
Dgkd	C	A	1: 87,929,827	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,684,983	S108P	probably benign	Het
Dnajc24	A	G	2: 106,001,923		probably benign	Het
Dner	A	T	1: 84,445,456	S475R	probably damaging	Het
Doxl2	C	T	6: 48,975,753	T204I	probably damaging	Het
Dtnb	T	C	12: 3,781,190	L630P	probably benign	Het
Dysf	T	C	6: 84,073,903	F411L	probably benign	Het
Fam208a	T	C	14: 27,438,664	S128P	probably damaging	Het
Fam208a	C	T	14: 27,479,789	H1419Y	possibly damaging	Het
Fbxo18	G	A	2: 11,757,528	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,485,936	T186K	probably benign	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Grhl2	T	A	15: 37,336,314	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,675,991	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,677,376	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,262,984	V314A	probably benign	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kifc1	A	G	17: 33,884,587		probably null	Het
Klk13	T	A	7: 43,721,007	N31K	possibly damaging	Het
Klri1	T	A	6: 129,697,384	H221L	probably benign	Het
Ltbp4	G	A	7: 27,329,018	P273L	unknown	Het
Med16	T	C	10: 79,907,095	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,427,235	I92F	probably benign	Het
Muc5b	T	C	7: 141,862,637	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,147,857	F441I	probably damaging	Het
Ndst4	T	A	3: 125,438,682	L300*	probably null	Het
Nlgn2	G	T	11: 69,827,310	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Oas1f	G	A	5: 120,856,439	C341Y	possibly damaging	Het
Olfm5	A	T	7: 104,160,412	C111S	possibly damaging	Het
Olfr523	A	T	7: 140,176,683	I188L	probably benign	Het
Olfr697	T	C	7: 106,741,394	E180G	probably damaging	Het
Olfr821	C	T	10: 130,034,318	Q231*	probably null	Het
Olfr876	A	G	9: 37,803,946	I12V	probably benign	Het
Olfr919	T	A	9: 38,698,204	H58L	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Pde10a	T	C	17: 8,942,918	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,065,783	T338S	probably benign	Het
Pgghg	A	G	7: 140,943,347	M180V	probably benign	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,706,503	T463A	probably benign	Het
Rap1gds1	T	C	3: 139,050,556	I13V	probably null	Het
Rbak	A	T	5: 143,174,682	Y205*	probably null	Het
Reg3b	A	T	6: 78,371,814	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,115,534	Y12*	probably null	Het
Rnase6	A	G	14: 51,130,432	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,736,464	L273P	probably damaging	Het
Ryr3	A	C	2: 112,794,467	F2203V	probably damaging	Het
Sae1	A	T	7: 16,368,565	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,731	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,384,863	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc25a25	C	T	2: 32,420,651		probably null	Het
Slco4c1	T	A	1: 96,867,929	M135L	probably benign	Het
Slfn1	A	G	11: 83,121,753	I232V	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Srr	A	G	11: 74,908,716	V311A	probably damaging	Het
Tenm1	T	C	X: 42,827,201	D402G	probably benign	Het
Topors	T	C	4: 40,261,044	R747G	unknown	Het
Trank1	A	T	9: 111,391,628	I2478F	probably damaging	Het
Trim69	A	G	2: 122,167,684	N46D	probably benign	Het
Trpm1	T	A	7: 64,230,230	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttn	T	C	2: 76,814,305	K4708R	probably damaging	Het
Unkl	A	G	17: 25,209,645		probably benign	Het
Uros	A	T	7: 133,687,006	N257K	probably benign	Het
Usp25	A	G	16: 77,076,371	Y439C	probably damaging	Het
Vgf	A	G	5: 137,032,175		probably benign	Het
Vmn2r8	A	T	5: 108,799,286	D533E	probably damaging	Het
Vps13a	A	T	19: 16,725,631	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,495,742	V135A	possibly damaging	Het

Other mutations in Olfr1176

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Olfr1176	APN	2	88340427	missense	probably damaging	1.00
IGL02166:Olfr1176	APN	2	88339678	missense	probably damaging	0.97
IGL02340:Olfr1176	APN	2	88339562	unclassified	probably benign
IGL02598:Olfr1176	APN	2	88340251	missense	possibly damaging	0.64
IGL03069:Olfr1176	APN	2	88340299	splice site	probably null
IGL03212:Olfr1176	APN	2	88339672	missense	probably damaging	1.00
R1959:Olfr1176	UTSW	2	88340201	missense	probably damaging	1.00
R2907:Olfr1176	UTSW	2	88340483	missense	probably benign	0.11
R2908:Olfr1176	UTSW	2	88340483	missense	probably benign	0.11
R4049:Olfr1176	UTSW	2	88343800	splice site	probably null
R4257:Olfr1176	UTSW	2	88340277	missense	probably damaging	1.00
R4823:Olfr1176	UTSW	2	88339835	missense	probably damaging	0.96
R4897:Olfr1176	UTSW	2	88344342	missense	possibly damaging	0.89
R5106:Olfr1176	UTSW	2	88340110	missense	probably benign	0.07
R5192:Olfr1176	UTSW	2	88339748	missense	possibly damaging	0.94
R5196:Olfr1176	UTSW	2	88339748	missense	possibly damaging	0.94
R5331:Olfr1176	UTSW	2	88339988	missense	probably damaging	1.00
R5579:Olfr1176	UTSW	2	88340413	missense	possibly damaging	0.83
R6283:Olfr1176	UTSW	2	88339658	missense	probably benign	0.33
R6702:Olfr1176	UTSW	2	88340242	missense	probably benign	0.02
R8155:Olfr1176	UTSW	2	88339952	missense	probably damaging	0.98
R8904:Olfr1176	UTSW	2	88339605	missense	possibly damaging	0.82
R9094:Olfr1176	UTSW	2	88339904	missense	probably benign	0.00
R9443:Olfr1176	UTSW	2	88340020	missense	probably damaging	1.00
R9598:Olfr1176	UTSW	2	88340477	missense	possibly damaging	0.88
R9719:Olfr1176	UTSW	2	88339584	missense

Predicted Primers

PCR Primer
(F):5'- CTGTGCTCTCCTAGTAACTGGAAC -3'
(R):5'- ACTATCTTAACAAGAAGCAGTGAGC -3'

Sequencing Primer
(F):5'- CTAGTAACTGGAACTTACCTATGGGG -3'
(R):5'- CTCTTTGACTTGAGCACGCAGTATAG -3'

Posted On

2015-05-19