Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Or5w12'

694372

Institutional Source

Beutler Lab

Gene Symbol

Or5w12

Ensembl Gene

ENSMUSG00000075153

Gene Name

olfactory receptor family 5 subfamily W member 12

Synonyms

GA_x6K02T2Q125-49177531-49176599, MOR177-2, Olfr1135

MMRRC Submission

068934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87501777-87502709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87502313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 133 (V133I)

Ref Sequence

ENSEMBL: ENSMUSP00000150079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099853] [ENSMUST00000213835]

AlphaFold

Q7TR42

Predicted Effect

probably benign
Transcript: ENSMUST00000099853
AA Change: V133I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097439
Gene: ENSMUSG00000075153
AA Change: V133I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3e-44	PFAM
Pfam:7tm_1	41	290	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213835
AA Change: V133I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Foxm1	T	A	6: 128,344,298 (GRCm39)	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Kif7	A	T	7: 79,356,585 (GRCm39)	M702K	probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Or6c1	T	C	10: 129,518,285 (GRCm39)	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttk	G	A	9: 83,725,741 (GRCm39)	R221Q	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	probably damaging	Het

Other mutations in Or5w12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Or5w12	APN	2	87,502,159 (GRCm39)	missense	probably damaging	0.99
IGL03158:Or5w12	APN	2	87,502,135 (GRCm39)	missense	probably benign	0.14
R0559:Or5w12	UTSW	2	87,502,244 (GRCm39)	missense	possibly damaging	0.54
R1288:Or5w12	UTSW	2	87,501,916 (GRCm39)	missense	probably benign	0.01
R2278:Or5w12	UTSW	2	87,502,289 (GRCm39)	missense	possibly damaging	0.63
R2304:Or5w12	UTSW	2	87,502,238 (GRCm39)	missense	probably benign	0.01
R4328:Or5w12	UTSW	2	87,502,008 (GRCm39)	missense	possibly damaging	0.52
R5094:Or5w12	UTSW	2	87,502,174 (GRCm39)	missense	possibly damaging	0.90
R6922:Or5w12	UTSW	2	87,501,797 (GRCm39)	nonsense	probably null
R7042:Or5w12	UTSW	2	87,501,935 (GRCm39)	missense	possibly damaging	0.90
R8824:Or5w12	UTSW	2	87,502,304 (GRCm39)	missense	possibly damaging	0.90
R8919:Or5w12	UTSW	2	87,502,567 (GRCm39)	missense	probably damaging	1.00
R9394:Or5w12	UTSW	2	87,502,094 (GRCm39)	missense	probably benign	0.01
R9712:Or5w12	UTSW	2	87,502,105 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGTGCTCAGTTCAATGAACCC -3'
(R):5'- AGTTGGACCAAAGATGCTAGTTG -3'

Sequencing Primer
(F):5'- CTGTGTATCTGAGCAAGATAGTAGC -3'
(R):5'- CCAAAGATGCTAGTTGACCTAATGG -3'

Posted On

2022-01-20