Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Or4k15c'

326434

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

041127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50321171-50322136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50322060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 26 (F26S)

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 benign
Transcript: ENSMUST00000072370
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: F26S

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: F26S

Predicted Effect

probably benign
Transcript: ENSMUST00000206834
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213345
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215105
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215278
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217025
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217319
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217422
AA Change: F26S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,822,435 (GRCm39)		probably null	Het
Abca13	A	C	11: 9,259,034 (GRCm39)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,056,724 (GRCm39)		noncoding transcript	Het
Anapc1	T	C	2: 128,518,169 (GRCm39)		probably null	Het
Bmp7	T	G	2: 172,758,335 (GRCm39)	D178A	probably benign	Het
Brsk1	T	A	7: 4,701,749 (GRCm39)	I170N	probably damaging	Het
Bub3	C	T	7: 131,168,064 (GRCm39)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,277,479 (GRCm39)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,842,179 (GRCm39)	K20N	probably benign	Het
Clec12a	A	T	6: 129,330,427 (GRCm39)		probably benign	Het
Col12a1	T	A	9: 79,569,770 (GRCm39)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 26,728,700 (GRCm39)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,059,917 (GRCm39)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,375 (GRCm39)	R1188H	probably benign	Het
Dop1a	T	C	9: 86,385,196 (GRCm39)		probably benign	Het
Efcab5	T	A	11: 76,981,284 (GRCm39)	N1354I	probably damaging	Het
Eif4b	T	A	15: 101,995,076 (GRCm39)		probably null	Het
Erlec1	A	G	11: 30,893,697 (GRCm39)		probably null	Het
Esp24	T	C	17: 39,350,968 (GRCm39)		probably benign	Het
Esp34	T	C	17: 38,870,382 (GRCm39)	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,397,300 (GRCm39)		probably benign	Het
Foxc2	T	C	8: 121,844,191 (GRCm39)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 113,068,002 (GRCm39)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,477,204 (GRCm39)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,289,483 (GRCm39)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Ift56	A	G	6: 38,358,492 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,585,880 (GRCm39)	Y83H	probably damaging	Het
Mdga1	T	C	17: 30,069,630 (GRCm39)	T413A	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mmrn2	T	A	14: 34,119,573 (GRCm39)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,187,311 (GRCm39)	R133C	probably damaging	Het
Myh13	A	C	11: 67,235,707 (GRCm39)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm39)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,290,284 (GRCm39)	Q212P	probably damaging	Het
Or4f7d-ps1	T	C	2: 111,674,690 (GRCm39)		noncoding transcript	Het
Otog	T	C	7: 45,934,548 (GRCm39)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,248,334 (GRCm39)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,670,490 (GRCm39)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,189,655 (GRCm39)	T678A	probably damaging	Het
Scaper	T	A	9: 55,765,399 (GRCm39)	E557V	probably damaging	Het
Scube3	C	T	17: 28,383,762 (GRCm39)	P511L	probably null	Het
Sgpl1	A	G	10: 60,940,231 (GRCm39)		probably benign	Het
Slc10a1	C	A	12: 81,014,578 (GRCm39)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,117,896 (GRCm39)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,710,198 (GRCm39)	T344A	probably benign	Het
Tgm4	C	T	9: 122,895,817 (GRCm39)	T631I	probably benign	Het
Tmprss15	A	G	16: 78,821,326 (GRCm39)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,637,429 (GRCm39)		probably null	Het
Trpm7	A	T	2: 126,690,458 (GRCm39)	W207R	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Usp2	A	T	9: 44,002,556 (GRCm39)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,207,135 (GRCm39)	V169I	probably benign	Het
Vopp1	A	C	6: 57,739,461 (GRCm39)	F29C	probably damaging	Het
Wrn	T	C	8: 33,741,860 (GRCm39)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,287,707 (GRCm39)	C419*	probably null	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
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
R5859:Or4k15c	UTSW	14	50,321,484 (GRCm39)	missense	probably damaging	1.00
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'- AGTCAGCAAGCATTTTGGGG -3'
(R):5'- ACTAGCATTCCCTGATTAAGGC -3'

Sequencing Primer
(F):5'- CAGCAAGCATTTTGGGGGTAGC -3'
(R):5'- CTGTGGAAAGATGAACTGTGAC -3'

Posted On

2015-07-06