Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Or51k1'

304394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51k1

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor family 51 subfamily K member 1

Synonyms

GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639

Accession Numbers

Essential gene?

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

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

103660957-103661907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103661609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 100 (L100W)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

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

AlphaFold

Q8VGY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000106862
AA Change: L100W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: L100W

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 damaging
Transcript: ENSMUST00000215653
AA Change: L100W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	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
IGL03124:Or51k1	APN	7	103,661,001 (GRCm39)	missense	probably benign
R0004:Or51k1	UTSW	7	103,661,638 (GRCm39)	missense	probably benign	0.02
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

Posted On

2015-04-16