Mutagenetix > Incidental Mutation

Incidental Mutation 'R0004:Or51k1'

32390

Institutional Source

Beutler Lab

Gene Symbol

Or51k1

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor family 51 subfamily K member 1

Synonyms

GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639

MMRRC Submission

038300-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0004 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103660957-103661907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103661638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 90 (N90K)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]

AlphaFold

Q8VGY8

Predicted Effect

probably benign
Transcript: ENSMUST00000106862
AA Change: N90K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: N90K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	173	3.6e-9	PFAM
Pfam:7tm_1	43	294	4.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215653
AA Change: N90K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 120,982,966 (GRCm39)	I86T	probably damaging	Het
Aff3	T	C	1: 38,308,807 (GRCm39)	D376G	possibly damaging	Het
Akap11	A	T	14: 78,752,380 (GRCm39)	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,303,220 (GRCm39)	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,063,294 (GRCm39)	V101A	probably damaging	Het
Atm	A	T	9: 53,364,828 (GRCm39)		probably benign	Het
Ccdc18	A	G	5: 108,309,566 (GRCm39)	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,409,964 (GRCm39)	Q261L	probably damaging	Het
Cd180	T	G	13: 102,839,216 (GRCm39)	V33G	probably benign	Het
Cd207	G	A	6: 83,651,230 (GRCm39)	Q242*	probably null	Het
Cnp	T	C	11: 100,467,633 (GRCm39)	F192S	probably damaging	Het
Colec10	G	T	15: 54,274,271 (GRCm39)	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,819,390 (GRCm39)	M16L	probably benign	Het
Dnah10	A	T	5: 124,803,966 (GRCm39)	M98L	probably benign	Het
Dnah17	T	C	11: 117,950,918 (GRCm39)	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,646,635 (GRCm39)		probably benign	Het
Epha5	T	C	5: 84,479,701 (GRCm39)	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,384,835 (GRCm39)	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,530,381 (GRCm39)	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,896,082 (GRCm39)	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,095 (GRCm39)	T45A	possibly damaging	Het
Gckr	A	T	5: 31,454,933 (GRCm39)		probably benign	Het
Glce	T	A	9: 61,975,861 (GRCm39)	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,123,469 (GRCm39)	H84P	unknown	Het
Hbegf	A	G	18: 36,640,559 (GRCm39)	V166A	probably damaging	Het
Helb	G	T	10: 119,944,886 (GRCm39)	H217N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,418,257 (GRCm39)	L392P	probably damaging	Het
Klra1	A	T	6: 130,349,836 (GRCm39)	Y201N	probably damaging	Het
Klra3	A	G	6: 130,300,650 (GRCm39)	S240P	probably damaging	Het
Liph	T	A	16: 21,802,944 (GRCm39)	R42*	probably null	Het
Lrp1	A	T	10: 127,377,694 (GRCm39)		probably null	Het
Luc7l2	A	T	6: 38,566,169 (GRCm39)	K52M	probably damaging	Het
Mecom	G	A	3: 30,034,060 (GRCm39)	P215S	probably damaging	Het
Myo1g	T	A	11: 6,465,901 (GRCm39)	T395S	probably damaging	Het
Ndst4	T	A	3: 125,364,475 (GRCm39)	M384K	probably benign	Het
Ndufb2	C	T	6: 39,573,438 (GRCm39)	T51I	possibly damaging	Het
Nell1	C	A	7: 50,210,507 (GRCm39)		probably benign	Het
Oxr1	G	A	15: 41,683,936 (GRCm39)	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,290 (GRCm39)	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,545,012 (GRCm39)	D29E	probably benign	Het
Pde10a	A	G	17: 9,200,408 (GRCm39)	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,702,384 (GRCm39)	H1184L	probably damaging	Het
Prkaa2	C	T	4: 104,904,288 (GRCm39)	R263Q	probably null	Het
Prmt9	A	G	8: 78,282,411 (GRCm39)	I103V	possibly damaging	Het
Rbm15b	T	C	9: 106,762,135 (GRCm39)	T678A	probably benign	Het
Ryr2	T	C	13: 11,680,805 (GRCm39)	Y3180C	probably benign	Het
Scaf1	T	C	7: 44,657,094 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,406,482 (GRCm39)		probably benign	Het
Sf1	C	A	19: 6,424,221 (GRCm39)	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,533,653 (GRCm39)		probably benign	Het
Stk32a	T	C	18: 43,438,121 (GRCm39)	W207R	probably damaging	Het
Syne1	A	T	10: 5,393,132 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,256,774 (GRCm39)	V1634E	possibly damaging	Het
Tenm2	A	G	11: 35,914,184 (GRCm39)	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,391,791 (GRCm39)		probably benign	Het
Tpgs2	A	G	18: 25,291,295 (GRCm39)		probably benign	Het
Washc5	A	G	15: 59,239,316 (GRCm39)	M149T	probably damaging	Het
Wrn	A	T	8: 33,807,588 (GRCm39)	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,370,626 (GRCm39)	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,837,495 (GRCm39)	A123V	probably benign	Het

Other mutations in Or51k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or51k1	APN	7	103,661,321 (GRCm39)	missense	probably damaging	1.00
IGL01547:Or51k1	APN	7	103,661,867 (GRCm39)	missense	probably benign	0.43
IGL02173:Or51k1	APN	7	103,661,037 (GRCm39)	missense	probably damaging	1.00
IGL02707:Or51k1	APN	7	103,661,609 (GRCm39)	missense	probably damaging	1.00
IGL03124:Or51k1	APN	7	103,661,001 (GRCm39)	missense	probably benign
R0086:Or51k1	UTSW	7	103,661,261 (GRCm39)	missense	probably benign	0.23
R0370:Or51k1	UTSW	7	103,661,266 (GRCm39)	missense	probably damaging	0.99
R0599:Or51k1	UTSW	7	103,661,395 (GRCm39)	nonsense	probably null
R1351:Or51k1	UTSW	7	103,661,523 (GRCm39)	missense	possibly damaging	0.81
R1604:Or51k1	UTSW	7	103,661,162 (GRCm39)	missense	probably damaging	1.00
R2314:Or51k1	UTSW	7	103,661,436 (GRCm39)	missense	probably benign	0.09
R2656:Or51k1	UTSW	7	103,661,072 (GRCm39)	missense	probably damaging	0.96
R4594:Or51k1	UTSW	7	103,661,624 (GRCm39)	missense	probably benign	0.01
R4774:Or51k1	UTSW	7	103,661,795 (GRCm39)	missense	probably benign	0.00
R4945:Or51k1	UTSW	7	103,661,585 (GRCm39)	missense	possibly damaging	0.85
R4968:Or51k1	UTSW	7	103,661,777 (GRCm39)	missense	probably damaging	1.00
R4981:Or51k1	UTSW	7	103,661,312 (GRCm39)	missense	probably damaging	0.97
R5072:Or51k1	UTSW	7	103,661,325 (GRCm39)	missense	probably damaging	0.97
R5982:Or51k1	UTSW	7	103,661,117 (GRCm39)	missense	probably damaging	1.00
R6303:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6304:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6332:Or51k1	UTSW	7	103,660,980 (GRCm39)	missense	probably benign	0.00
R7107:Or51k1	UTSW	7	103,661,489 (GRCm39)	missense	probably benign	0.16
R7152:Or51k1	UTSW	7	103,661,226 (GRCm39)	missense	probably benign
R7456:Or51k1	UTSW	7	103,661,045 (GRCm39)	missense	possibly damaging	0.83
R7849:Or51k1	UTSW	7	103,661,510 (GRCm39)	missense	possibly damaging	0.56
R8023:Or51k1	UTSW	7	103,661,006 (GRCm39)	missense	probably damaging	0.97
R8082:Or51k1	UTSW	7	103,661,897 (GRCm39)	missense	probably benign	0.04
R8215:Or51k1	UTSW	7	103,661,330 (GRCm39)	missense	possibly damaging	0.85
R8428:Or51k1	UTSW	7	103,661,632 (GRCm39)	nonsense	probably null
R8985:Or51k1	UTSW	7	103,661,367 (GRCm39)	missense	probably damaging	1.00
R9261:Or51k1	UTSW	7	103,661,336 (GRCm39)	missense	probably damaging	1.00
Z1177:Or51k1	UTSW	7	103,661,357 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCACAATGAGTAATGAGTCCAGCCC -3'
(R):5'- GCTAACTGCCGTTTGTCTCAACTGC -3'

Sequencing Primer
(F):5'- GCCATGAGTGCAACACTCTTTAG -3'
(R):5'- TAACTGGCATTCCAGGACTG -3'

Posted On

2013-05-09