Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Or4k15c'

61295

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

038874-MU

Accession Numbers

Essential gene?

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

Stock #

R0689 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50321171-50322136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50321689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 150 (F150I)

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: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: F150I

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: F150I

Predicted Effect

probably benign
Transcript: ENSMUST00000206834
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000213345
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000215105
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000215278
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217025
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217319
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217422
AA Change: F150I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,051,753 (GRCm39)	D400V	probably benign	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnaja2	A	G	8: 86,273,347 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Itgbl1	A	T	14: 124,065,259 (GRCm39)	I61F	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Skp1	T	C	11: 52,134,592 (GRCm39)		probably benign	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zcchc2	C	T	1: 105,958,234 (GRCm39)	Q504*	probably null	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		probably benign	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
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
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'- AGATAGCGACCCCTCAGCTTTGAC -3'
(R):5'- TGAAGCCTGCTTGGCTCAGATTTTC -3'

Sequencing Primer
(F):5'- TGTACTCAGGGTGAGAACTCC -3'
(R):5'- CTGTGTCCATCAATTTGCTGG -3'

Posted On

2013-07-30