Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Or4c15b'

166864

Institutional Source

Beutler Lab

Gene Symbol

Or4c15b

Ensembl Gene

ENSMUSG00000075095

Gene Name

olfactory receptor family 4 subfamily C member 15B

Synonyms

Olfr1229, GA_x6K02T2Q125-50727797-50726862, MOR233-19, MOR233-22

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89112540-89113475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89113401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 46 (I46M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099788] [ENSMUST00000213883] [ENSMUST00000214593]

AlphaFold

Q7TQZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000099788
AA Change: I25M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097376
Gene: ENSMUSG00000075095
AA Change: I25M

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	2.9e-29	PFAM
Pfam:7tm_4	138	279	1.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111549
AA Change: I46M

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107174
Gene: ENSMUSG00000075095
AA Change: I46M

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
Pfam:7tm_4	49	324	9.6e-51	PFAM
Pfam:7tm_1	60	307	7.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213883
AA Change: I25M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000214593
AA Change: I25M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	Het

Other mutations in Or4c15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02982:Or4c15b	APN	2	89,113,453 (GRCm39)	missense	probably damaging	0.98
R1610:Or4c15b	UTSW	2	89,113,165 (GRCm39)	missense	probably damaging	1.00
R3896:Or4c15b	UTSW	2	89,113,441 (GRCm39)	missense	possibly damaging	0.78
R4516:Or4c15b	UTSW	2	89,113,187 (GRCm39)	missense	probably benign	0.05
R4922:Or4c15b	UTSW	2	89,112,811 (GRCm39)	missense	possibly damaging	0.93
R4990:Or4c15b	UTSW	2	89,113,671 (GRCm39)	splice site	probably null
R5267:Or4c15b	UTSW	2	89,112,574 (GRCm39)	nonsense	probably null
R5271:Or4c15b	UTSW	2	89,113,297 (GRCm39)	missense	probably benign	0.39
R5514:Or4c15b	UTSW	2	89,112,817 (GRCm39)	missense	probably damaging	1.00
R5621:Or4c15b	UTSW	2	89,112,697 (GRCm39)	missense	probably damaging	0.97
R7154:Or4c15b	UTSW	2	89,113,204 (GRCm39)	missense	probably damaging	1.00
R7992:Or4c15b	UTSW	2	89,113,082 (GRCm39)	missense	probably benign	0.01
R9028:Or4c15b	UTSW	2	89,112,676 (GRCm39)	missense	probably damaging	1.00
Z1176:Or4c15b	UTSW	2	89,113,241 (GRCm39)	frame shift	probably null
Z1176:Or4c15b	UTSW	2	89,112,881 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCAGCCCCTCCAAAGAAATGTTCAG -3'
(R):5'- ACACGGTCCTCACTTCCTCATAAGATG -3'

Sequencing Primer
(F):5'- TCATGCATCCTTCAAAGGAGATGG -3'
(R):5'- CAGGCACAAAATGTGATTTTGG -3'

Posted On

2014-04-13