Mutagenetix > Incidental Mutation

Incidental Mutation 'R2094:Or4k15b'

231992

Institutional Source

Beutler Lab

Gene Symbol

Or4k15b

Ensembl Gene

ENSMUSG00000068437

Gene Name

olfactory receptor family 4 subfamily K member 15B

Synonyms

GA_x6K02T2PMLR-5725741-5724776, MOR246-7_p, Olfr725, MOR246-3

MMRRC Submission

040098-MU

Accession Numbers

Essential gene?

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

Stock #

R2094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50271771-50277832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50272171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 230 (S230T)

Ref Sequence

ENSEMBL: ENSMUSP00000145828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089844] [ENSMUST00000206920]

AlphaFold

Q05A45

Predicted Effect

probably damaging
Transcript: ENSMUST00000089844
AA Change: S230T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087282
Gene: ENSMUSG00000068437
AA Change: S230T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	36	282	1.8e-7	PFAM
Pfam:7tm_1	41	287	5.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206920
AA Change: S230T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,154 (GRCm39)	I169V	probably benign	Het
Arrdc5	A	G	17: 56,604,856 (GRCm39)	S144P	probably benign	Het
Astn1	A	G	1: 158,495,179 (GRCm39)	M92V	probably benign	Het
Atg5	A	G	10: 44,195,544 (GRCm39)	I189M	probably damaging	Het
Atmin	A	G	8: 117,684,277 (GRCm39)	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,115,000 (GRCm39)	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,455,785 (GRCm39)	K16E	probably damaging	Het
Bex6	G	A	16: 32,005,278 (GRCm39)	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705 (GRCm39)	Y101C	probably damaging	Het
Ccdc168	A	C	1: 44,098,890 (GRCm39)	I736S	probably benign	Het
Cdx1	T	C	18: 61,168,984 (GRCm39)	D70G	possibly damaging	Het
Cebpz	T	C	17: 79,242,983 (GRCm39)	T224A	probably benign	Het
Cep170b	T	C	12: 112,702,164 (GRCm39)	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,386,912 (GRCm39)	R353W	possibly damaging	Het
Chst5	A	T	8: 112,617,176 (GRCm39)	V148E	probably benign	Het
Clhc1	T	A	11: 29,507,771 (GRCm39)	W162R	probably benign	Het
Csmd1	T	A	8: 16,129,992 (GRCm39)	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,590,300 (GRCm39)	M276L	probably benign	Het
Dot1l	C	T	10: 80,621,712 (GRCm39)	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735 (GRCm39)	V903A	probably benign	Het
Eno1b	T	C	18: 48,180,542 (GRCm39)	V240A	possibly damaging	Het
Erich1	T	G	8: 14,140,527 (GRCm39)		probably benign	Het
Ermp1	A	C	19: 29,617,328 (GRCm39)	S227A	probably benign	Het
Etv1	C	A	12: 38,885,115 (GRCm39)	P143Q	probably null	Het
Gimap8	A	T	6: 48,627,502 (GRCm39)	I159F	probably benign	Het
Gpr4	G	A	7: 18,956,503 (GRCm39)	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,020,639 (GRCm39)	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,358,667 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,710,488 (GRCm39)	N398I	probably damaging	Het
Iws1	A	G	18: 32,217,719 (GRCm39)	E441G	probably damaging	Het
Larp7-ps	A	G	4: 92,079,893 (GRCm39)	S32P	probably damaging	Het
Megf10	A	T	18: 57,414,785 (GRCm39)	K732*	probably null	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Mrgprb8	T	C	7: 48,038,953 (GRCm39)	V208A	probably benign	Het
Msc	G	C	1: 14,825,908 (GRCm39)	P22R	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Oxsr1	A	C	9: 119,123,560 (GRCm39)	H71Q	probably benign	Het
Pkp2	T	A	16: 16,064,831 (GRCm39)	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,072,582 (GRCm39)	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,810,136 (GRCm39)	S279P	probably damaging	Het
Rtl1	T	A	12: 109,557,831 (GRCm39)	D1336V	unknown	Het
Serpina3m	G	T	12: 104,355,529 (GRCm39)	K65N	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Slc10a1	A	G	12: 81,002,822 (GRCm39)	V272A	possibly damaging	Het
Slc25a29	A	T	12: 108,793,358 (GRCm39)	N73K	probably damaging	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Srrm2	T	C	17: 24,031,403 (GRCm39)		probably benign	Het
Stk11ip	A	G	1: 75,502,165 (GRCm39)		probably benign	Het
Tcerg1	A	G	18: 42,697,210 (GRCm39)	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,343,598 (GRCm39)	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,647,415 (GRCm39)	L41S	probably damaging	Het
Trim42	T	C	9: 97,248,150 (GRCm39)	N182S	probably benign	Het
Ttn	T	C	2: 76,660,432 (GRCm39)	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390 (GRCm39)	T259A	probably benign	Het

Other mutations in Or4k15b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Or4k15b	APN	14	50,272,507 (GRCm39)	missense	probably benign	0.29
IGL01412:Or4k15b	APN	14	50,272,770 (GRCm39)	missense	probably benign
IGL03241:Or4k15b	APN	14	50,272,525 (GRCm39)	missense	possibly damaging	0.70
IGL03268:Or4k15b	APN	14	50,272,024 (GRCm39)	missense	probably damaging	0.98
IGL03348:Or4k15b	APN	14	50,272,212 (GRCm39)	missense	probably benign	0.00
R0358:Or4k15b	UTSW	14	50,272,743 (GRCm39)	missense	probably damaging	0.97
R0577:Or4k15b	UTSW	14	50,272,249 (GRCm39)	missense	probably damaging	1.00
R2424:Or4k15b	UTSW	14	50,272,281 (GRCm39)	missense	probably damaging	1.00
R3421:Or4k15b	UTSW	14	50,271,997 (GRCm39)	missense	possibly damaging	0.66
R3422:Or4k15b	UTSW	14	50,271,997 (GRCm39)	missense	possibly damaging	0.66
R4436:Or4k15b	UTSW	14	50,272,287 (GRCm39)	missense	probably damaging	1.00
R4437:Or4k15b	UTSW	14	50,272,287 (GRCm39)	missense	probably damaging	1.00
R4438:Or4k15b	UTSW	14	50,272,287 (GRCm39)	missense	probably damaging	1.00
R4684:Or4k15b	UTSW	14	50,272,287 (GRCm39)	missense	probably damaging	1.00
R4717:Or4k15b	UTSW	14	50,272,821 (GRCm39)	missense	probably damaging	0.98
R5253:Or4k15b	UTSW	14	50,272,745 (GRCm39)	missense	possibly damaging	0.91
R5254:Or4k15b	UTSW	14	50,272,135 (GRCm39)	missense	possibly damaging	0.60
R5641:Or4k15b	UTSW	14	50,272,746 (GRCm39)	missense	probably benign	0.04
R5881:Or4k15b	UTSW	14	50,272,444 (GRCm39)	missense	probably benign	0.00
R5906:Or4k15b	UTSW	14	50,272,306 (GRCm39)	missense	probably benign	0.05
R6511:Or4k15b	UTSW	14	50,272,266 (GRCm39)	missense	probably damaging	1.00
R7837:Or4k15b	UTSW	14	50,272,033 (GRCm39)	missense	probably damaging	1.00
R7980:Or4k15b	UTSW	14	50,272,252 (GRCm39)	missense	probably damaging	1.00
R8118:Or4k15b	UTSW	14	50,272,608 (GRCm39)	missense	probably benign	0.13
R8942:Or4k15b	UTSW	14	50,272,602 (GRCm39)	missense	probably damaging	1.00
R9084:Or4k15b	UTSW	14	50,271,916 (GRCm39)	missense	probably benign
R9797:Or4k15b	UTSW	14	50,272,224 (GRCm39)	missense	probably benign	0.19
X0062:Or4k15b	UTSW	14	50,272,317 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTGACATAGCTGCTTTCAC -3'
(R):5'- TGGCATTCACTGTTAACTTGCC -3'

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

Posted On

2014-09-18