Mutagenetix > Incidental Mutation

Incidental Mutation 'R8824:Or5w12'

673307

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

068657-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87501777-87502709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87502304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 136 (M136V)

Ref Sequence

ENSEMBL: ENSMUSP00000150079 (fasta)

Gene Model

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

AlphaFold

Q7TR42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099853
AA Change: M136V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097439
Gene: ENSMUSG00000075153
AA Change: M136V

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

possibly damaging
Transcript: ENSMUST00000213835
AA Change: M136V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,693,195 (GRCm39)	V260D	probably damaging	Het
Adora2a	G	A	10: 75,162,013 (GRCm39)	A51T	probably damaging	Het
Afg1l	G	A	10: 42,314,383 (GRCm39)	P128S	possibly damaging	Het
Ago4	C	A	4: 126,400,977 (GRCm39)	V623L	probably benign	Het
Akap11	A	T	14: 78,753,787 (GRCm39)	N112K		Het
C1ra	A	T	6: 124,494,654 (GRCm39)	I306F	probably damaging	Het
Ccdc73	A	G	2: 104,822,222 (GRCm39)	N724D	possibly damaging	Het
Cd248	A	G	19: 5,119,645 (GRCm39)	I498V	probably benign	Het
Clrn1	A	T	3: 58,792,314 (GRCm39)	S50T	probably benign	Het
Col7a1	A	G	9: 108,796,093 (GRCm39)	K1553R	unknown	Het
Cxcr6	A	C	9: 123,640,006 (GRCm39)	T343P	probably benign	Het
Cyp11b2	T	A	15: 74,727,914 (GRCm39)	Q56L	probably damaging	Het
Dip2a	A	G	10: 76,114,320 (GRCm39)		probably null	Het
Dnmbp	A	G	19: 43,838,276 (GRCm39)	V742A	probably benign	Het
Dusp16	A	T	6: 134,716,732 (GRCm39)	S192T	probably benign	Het
Ehbp1	A	T	11: 22,182,053 (GRCm39)	D87E	probably damaging	Het
Fgl1	A	G	8: 41,652,748 (GRCm39)	V150A	probably benign	Het
Flt3	T	C	5: 147,271,673 (GRCm39)	D873G	probably damaging	Het
Gart	T	C	16: 91,427,591 (GRCm39)	D469G	possibly damaging	Het
Gm28168	T	G	1: 117,875,625 (GRCm39)	S85A	probably benign	Het
Golgb1	A	G	16: 36,736,051 (GRCm39)	D1807G	probably benign	Het
Grm8	A	G	6: 27,761,351 (GRCm39)	L291S	probably damaging	Het
Gucy2d	C	T	7: 98,092,676 (GRCm39)	P18S	possibly damaging	Het
Ifna15	C	T	4: 88,475,998 (GRCm39)	C162Y	probably damaging	Het
Iqub	C	A	6: 24,479,307 (GRCm39)	E412*	probably null	Het
Krt4	T	A	15: 101,829,077 (GRCm39)	D312V		Het
Krtap26-1	T	C	16: 88,444,324 (GRCm39)	Y99C	probably damaging	Het
Krtap26-1	A	T	16: 88,444,303 (GRCm39)	I106N	probably damaging	Het
Lipn	T	C	19: 34,062,116 (GRCm39)	I357T	probably benign	Het
Lrrc14b	A	G	13: 74,512,068 (GRCm39)	L4P	probably damaging	Het
Mrgpra9	A	T	7: 46,885,041 (GRCm39)	C209S	probably benign	Het
Myh7b	A	G	2: 155,472,301 (GRCm39)	N1291D	probably benign	Het
Myo5a	A	G	9: 75,074,328 (GRCm39)	T746A	probably damaging	Het
Myom2	A	C	8: 15,164,169 (GRCm39)	E1021D	possibly damaging	Het
Ncoa2	C	T	1: 13,247,409 (GRCm39)	R338H	probably benign	Het
Ncor2	A	G	5: 125,195,821 (GRCm39)	F91L		Het
Neb	C	G	2: 52,106,923 (GRCm39)	A4407P	probably damaging	Het
Or10u4	C	T	10: 129,801,661 (GRCm39)	V297M	probably damaging	Het
Or1j18	A	T	2: 36,625,203 (GRCm39)	Y290F	probably damaging	Het
Or4b1b	A	G	2: 90,126,356 (GRCm39)	I283T	probably damaging	Het
Or5d47	A	G	2: 87,804,347 (GRCm39)	F221L	probably benign	Het
Or5p76	T	G	7: 108,122,350 (GRCm39)	Y269S	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Piwil4	C	A	9: 14,638,771 (GRCm39)	K298N	probably benign	Het
Prkcz	G	A	4: 155,429,285 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,090,067 (GRCm39)	P691L	possibly damaging	Het
Ptprc	T	A	1: 138,041,446 (GRCm39)	K89*	probably null	Het
Rapgef3	C	T	15: 97,664,789 (GRCm39)	A25T	probably benign	Het
Rreb1	C	T	13: 38,114,492 (GRCm39)	T617I	probably damaging	Het
Rsph1	A	C	17: 31,492,350 (GRCm39)	V72G	possibly damaging	Het
Shc2	A	G	10: 79,473,536 (GRCm39)	V50A	probably benign	Het
Slc38a9	G	A	13: 112,838,021 (GRCm39)	R262H	probably benign	Het
Slco6c1	T	A	1: 97,055,884 (GRCm39)	N6Y	possibly damaging	Het
Smarca5	A	G	8: 81,431,961 (GRCm39)	F886L	probably benign	Het
Tas1r2	A	G	4: 139,381,074 (GRCm39)		probably benign	Het
Tnrc6c	T	A	11: 117,630,680 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,007,113 (GRCm39)		probably benign	Het
Trim55	T	C	3: 19,727,126 (GRCm39)	S398P	probably benign	Het
Ttc39c	T	A	18: 12,820,003 (GRCm39)		probably benign	Het
Ubxn10	A	G	4: 138,463,178 (GRCm39)		probably null	Het
Usf3	A	G	16: 44,035,976 (GRCm39)	N152S	probably benign	Het
Vps13b	T	A	15: 35,533,445 (GRCm39)	V839E	probably damaging	Het
Zeb1	T	A	18: 5,748,680 (GRCm39)		probably benign	Het
Zfp780b	T	C	7: 27,662,893 (GRCm39)	Y554C	probably benign	Het
Zhx2	C	T	15: 57,684,676 (GRCm39)	T15I	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
R8919:Or5w12	UTSW	2	87,502,567 (GRCm39)	missense	probably damaging	1.00
R9142:Or5w12	UTSW	2	87,502,313 (GRCm39)	missense	probably benign	0.00
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'- GGTGCTCAGTTCAATGAACC -3'
(R):5'- TGGACCAAAGATGCTAGTTGACC -3'

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

Posted On

2021-07-15