Mutagenetix > Incidental Mutation

Incidental Mutation 'R5859:Or4k15c'

455085

Institutional Source

Beutler Lab

Gene Symbol

Or4k15c

Ensembl Gene

ENSMUSG00000060523

Gene Name

olfactory receptor family 4 subfamily K member 15C

Synonyms

MOR246-4, GA_x6K02T2PMLR-5775299-5774334, Olfr726

MMRRC Submission

044071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50321171-50322136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50321484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 218 (Y218F)

Ref Sequence

ENSEMBL: ENSMUSP00000149373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072370] [ENSMUST00000206834] [ENSMUST00000213345] [ENSMUST00000215105] [ENSMUST00000215278] [ENSMUST00000217025] [ENSMUST00000217319] [ENSMUST00000217422]

AlphaFold

E9Q8X3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072370
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: Y218F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	1.3e-47	PFAM
Pfam:7TM_GPCR_Srsx	36	288	5.4e-8	PFAM
Pfam:7tm_1	41	287	7.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205951
AA Change: Y218F

Predicted Effect

probably damaging
Transcript: ENSMUST00000206834
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213345
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215105
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215278
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217025
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217319
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217422
AA Change: Y218F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

93% (70/75)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,303,477 (GRCm39)	V150E	probably benign	Het
Alg11	A	G	8: 22,555,857 (GRCm39)	K373E	probably benign	Het
Arl14ep	C	T	2: 106,799,398 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,608,284 (GRCm39)	G227R	probably benign	Het
Ash1l	C	T	3: 88,976,300 (GRCm39)	P2627S	probably damaging	Het
Btla	T	G	16: 45,059,402 (GRCm39)		probably null	Het
Btnl10	C	T	11: 58,813,138 (GRCm39)	P256S	probably benign	Het
Cep162	C	T	9: 87,086,145 (GRCm39)	A1060T	probably damaging	Het
Cfap54	T	A	10: 92,852,386 (GRCm39)	K907*	probably null	Het
Chpf	A	T	1: 75,452,072 (GRCm39)	F461I	probably damaging	Het
Chrdl2	A	G	7: 99,670,114 (GRCm39)	Y79C	probably damaging	Het
Copb2	G	A	9: 98,450,161 (GRCm39)	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,574,929 (GRCm39)	L1060P	probably damaging	Het
Drg1	G	A	11: 3,209,273 (GRCm39)		probably benign	Het
Erich3	A	G	3: 154,468,134 (GRCm39)	D862G	possibly damaging	Het
Flii	G	T	11: 60,607,137 (GRCm39)	Y946*	probably null	Het
Glt8d2	T	C	10: 82,507,915 (GRCm39)	M1V	probably null	Het
Gm21136	T	A	7: 38,567,165 (GRCm39)		noncoding transcript	Het
Gramd1c	T	C	16: 43,812,454 (GRCm39)	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,101,090 (GRCm39)	I471N	probably benign	Het
Hps3	G	A	3: 20,063,034 (GRCm39)	T711M	probably benign	Het
Hs3st4	A	T	7: 123,582,831 (GRCm39)	D143V	probably benign	Het
Kif17	T	A	4: 138,018,744 (GRCm39)	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,694,885 (GRCm39)	S21C	probably damaging	Het
Klk15	G	A	7: 43,587,800 (GRCm39)	R76H	probably benign	Het
Lnpk	G	A	2: 74,399,372 (GRCm39)	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,840,837 (GRCm39)	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,289,771 (GRCm39)	H141R	probably damaging	Het
Lvrn	T	C	18: 47,026,816 (GRCm39)	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,161,280 (GRCm39)	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026 (GRCm39)	N480S	probably benign	Het
Nelfcd	T	G	2: 174,268,856 (GRCm39)	*592G	probably null	Het
Neurog2	T	C	3: 127,427,664 (GRCm39)	V96A	probably benign	Het
Nod1	A	T	6: 54,907,162 (GRCm39)	W902R	probably benign	Het
Or12d13	T	C	17: 37,647,260 (GRCm39)	I288V	possibly damaging	Het
Or55b3	T	C	7: 102,126,957 (GRCm39)	Y40C	possibly damaging	Het
Or6d13	T	C	6: 116,517,861 (GRCm39)	L149P	probably damaging	Het
Pcdha11	A	T	18: 37,140,336 (GRCm39)	H655L	probably damaging	Het
Plpp7	A	G	2: 31,985,996 (GRCm39)	E58G	probably benign	Het
Psph	A	T	5: 129,867,685 (GRCm39)		probably benign	Het
Rab11fip1	A	C	8: 27,644,748 (GRCm39)	S346A	probably damaging	Het
Rreb1	C	A	13: 38,131,384 (GRCm39)	P1513T	probably benign	Het
Rreb1	C	T	13: 38,131,385 (GRCm39)	P1513L	probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Scap	A	G	9: 110,203,115 (GRCm39)	N263S	probably benign	Het
Sec24d	A	T	3: 123,072,961 (GRCm39)		probably benign	Het
Slain2	T	C	5: 73,105,888 (GRCm39)		probably benign	Het
Slc6a18	G	T	13: 73,816,278 (GRCm39)	T367N	probably benign	Het
Slk	T	A	19: 47,597,481 (GRCm39)	D96E	probably benign	Het
Spag5	G	A	11: 78,204,360 (GRCm39)	V514I	probably benign	Het
St8sia2	T	C	7: 73,616,654 (GRCm39)	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,288,381 (GRCm39)	I427F	probably benign	Het
Tlr2	T	G	3: 83,743,810 (GRCm39)	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,931,738 (GRCm39)	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,505,583 (GRCm39)	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,177,647 (GRCm39)	R452S	probably damaging	Het
Wdr5	A	G	2: 27,423,362 (GRCm39)	Y252C	probably damaging	Het
Zswim9	C	T	7: 12,995,371 (GRCm39)	V262M	probably damaging	Het

Other mutations in Or4k15c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Or4k15c	APN	14	50,321,454 (GRCm39)	missense	probably benign	0.00
IGL01432:Or4k15c	APN	14	50,321,404 (GRCm39)	missense	probably benign	0.07
IGL01788:Or4k15c	APN	14	50,321,959 (GRCm39)	missense	probably damaging	1.00
IGL01957:Or4k15c	APN	14	50,321,737 (GRCm39)	missense	probably benign	0.00
IGL02132:Or4k15c	APN	14	50,321,943 (GRCm39)	missense	probably damaging	1.00
R0611:Or4k15c	UTSW	14	50,321,310 (GRCm39)	missense	probably damaging	1.00
R0689:Or4k15c	UTSW	14	50,321,689 (GRCm39)	missense	probably benign	0.01
R1556:Or4k15c	UTSW	14	50,321,916 (GRCm39)	missense	possibly damaging	0.90
R1710:Or4k15c	UTSW	14	50,321,827 (GRCm39)	missense	probably benign	0.01
R1791:Or4k15c	UTSW	14	50,321,499 (GRCm39)	missense	probably benign	0.03
R1804:Or4k15c	UTSW	14	50,321,359 (GRCm39)	missense	probably damaging	0.99
R1853:Or4k15c	UTSW	14	50,321,577 (GRCm39)	missense	probably damaging	1.00
R2034:Or4k15c	UTSW	14	50,321,440 (GRCm39)	missense	probably benign	0.34
R3155:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably benign	0.09
R3156:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably benign	0.09
R3939:Or4k15c	UTSW	14	50,321,173 (GRCm39)	makesense	probably null
R4392:Or4k15c	UTSW	14	50,322,060 (GRCm39)	missense	probably benign	0.24
R4533:Or4k15c	UTSW	14	50,321,156 (GRCm39)	splice site	probably null
R4694:Or4k15c	UTSW	14	50,321,476 (GRCm39)	missense	probably benign
R5183:Or4k15c	UTSW	14	50,322,003 (GRCm39)	missense	probably damaging	0.99
R6186:Or4k15c	UTSW	14	50,321,982 (GRCm39)	missense	probably damaging	0.98
R6357:Or4k15c	UTSW	14	50,321,446 (GRCm39)	missense	probably damaging	0.99
R6771:Or4k15c	UTSW	14	50,321,446 (GRCm39)	missense	probably damaging	0.99
R6834:Or4k15c	UTSW	14	50,321,685 (GRCm39)	missense	probably damaging	0.99
R6924:Or4k15c	UTSW	14	50,321,307 (GRCm39)	missense	possibly damaging	0.91
R7953:Or4k15c	UTSW	14	50,321,367 (GRCm39)	missense	possibly damaging	0.53
R8043:Or4k15c	UTSW	14	50,321,367 (GRCm39)	missense	possibly damaging	0.53
R8255:Or4k15c	UTSW	14	50,321,329 (GRCm39)	missense	noncoding transcript
R9444:Or4k15c	UTSW	14	50,321,869 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCTCAGCTTTGACATAGCTGC -3'
(R):5'- TGGCATTCACTGTTAACTTGC -3'

Sequencing Primer
(F):5'- AGCTTTGACATAGCTGCTTTCAC -3'
(R):5'- CACTGTTAACTTGCCATTTTGTG -3'

Posted On

2017-02-10