Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02005:Or6b13'

279270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6b13

Ensembl Gene

ENSMUSG00000050366

Gene Name

olfactory receptor family 6 subfamily B member 13

Synonyms

GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P, Olfr524

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02005

Quality Score

Status

Chromosome

Chromosomal Location

139781299-139785192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139782345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 113 (E113K)

Ref Sequence

ENSEMBL: ENSMUSP00000150970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051943] [ENSMUST00000215815]

AlphaFold

Q7TRU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000051943
AA Change: E113K

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

SMART Domains

Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: E113K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	7.5e-56	PFAM
Pfam:7tm_1	42	292	6.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215815
AA Change: E113K

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,927 (GRCm39)	D141G	probably damaging	Het
Ankhd1	T	G	18: 36,781,479 (GRCm39)	L2177R	probably damaging	Het
Arhgap23	A	T	11: 97,382,045 (GRCm39)	D1136V	probably damaging	Het
Atp6v1b1	A	G	6: 83,730,896 (GRCm39)		probably benign	Het
Atxn1	T	C	13: 45,721,701 (GRCm39)	T65A	probably benign	Het
Bbs4	A	G	9: 59,243,638 (GRCm39)		probably benign	Het
Bms1	G	A	6: 118,381,546 (GRCm39)	T664M	probably damaging	Het
Bod1l	T	C	5: 41,973,682 (GRCm39)	D2544G	probably benign	Het
Cdhr2	C	T	13: 54,867,576 (GRCm39)	H469Y	probably benign	Het
Cep57l1	T	C	10: 41,616,957 (GRCm39)	D110G	probably benign	Het
Chd4	G	A	6: 125,105,779 (GRCm39)	E1786K	possibly damaging	Het
Cltc	T	C	11: 86,621,045 (GRCm39)	K321E	possibly damaging	Het
Col6a2	T	C	10: 76,446,007 (GRCm39)	D383G	probably damaging	Het
Crcp	T	G	5: 130,071,074 (GRCm39)	C58G	probably benign	Het
Ctc1	A	G	11: 68,921,975 (GRCm39)	Y807C	probably damaging	Het
Eml4	T	A	17: 83,785,132 (GRCm39)		probably benign	Het
Glce	A	T	9: 61,967,859 (GRCm39)	L431I	probably damaging	Het
Glp1r	C	A	17: 31,143,585 (GRCm39)	T207K	probably benign	Het
Gm28042	G	A	2: 119,865,115 (GRCm39)	V247I	possibly damaging	Het
Gvin-ps5	G	T	7: 105,928,627 (GRCm39)	F423L	unknown	Het
Hcrtr1	T	A	4: 130,031,056 (GRCm39)	H76L	probably benign	Het
Hoxb13	G	A	11: 96,085,435 (GRCm39)	G56D	probably damaging	Het
Hykk	A	G	9: 54,827,842 (GRCm39)	E27G	possibly damaging	Het
Kars1	A	T	8: 112,726,736 (GRCm39)	L321*	probably null	Het
Klhl12	A	T	1: 134,391,652 (GRCm39)	T95S	possibly damaging	Het
Klhl14	A	T	18: 21,757,668 (GRCm39)	Y347*	probably null	Het
Kmt5b	A	G	19: 3,836,538 (GRCm39)	H25R	possibly damaging	Het
Krtap12-1	T	A	10: 77,556,823 (GRCm39)	V122D	probably damaging	Het
Lrrc66	T	C	5: 73,766,077 (GRCm39)	D322G	possibly damaging	Het
Lrrc8b	T	A	5: 105,628,920 (GRCm39)	V422D	probably benign	Het
Med12l	T	G	3: 59,152,368 (GRCm39)	M1051R	probably damaging	Het
Mmrn1	A	G	6: 60,937,728 (GRCm39)	Y242C	probably damaging	Het
Ncf2	A	T	1: 152,692,803 (GRCm39)	I107L	possibly damaging	Het
Pdlim4	T	C	11: 53,950,810 (GRCm39)	D93G	probably benign	Het
Pgap1	C	A	1: 54,590,214 (GRCm39)	A75S	probably damaging	Het
Pkd1	A	G	17: 24,804,978 (GRCm39)	D3209G	possibly damaging	Het
Prcp	T	C	7: 92,577,032 (GRCm39)	S319P	probably benign	Het
Rasal2	G	A	1: 156,984,568 (GRCm39)	Q1035*	probably null	Het
Ryr3	A	T	2: 112,493,608 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,236,145 (GRCm39)	I544T	probably damaging	Het
Svep1	A	T	4: 58,069,056 (GRCm39)	V2910E	possibly damaging	Het
Tln2	C	T	9: 67,299,787 (GRCm39)	R155Q	possibly damaging	Het
Trpm7	A	T	2: 126,655,104 (GRCm39)	L1278H	probably damaging	Het
Tti2	G	T	8: 31,645,858 (GRCm39)	G391C	probably damaging	Het
Ttn	C	T	2: 76,778,363 (GRCm39)	M1295I	possibly damaging	Het
Ttn	T	C	2: 76,554,313 (GRCm39)		probably benign	Het
Vmn1r170	G	A	7: 23,306,338 (GRCm39)	V247M	probably damaging	Het
Wdr48	T	C	9: 119,734,455 (GRCm39)	Y125H	probably damaging	Het
Wdtc1	C	T	4: 133,036,225 (GRCm39)	R105H	probably benign	Het
Zc3h11a	A	G	1: 133,549,880 (GRCm39)	S699P	probably benign	Het
Zkscan14	C	T	5: 145,132,419 (GRCm39)	V371I	probably benign	Het
Zzef1	A	T	11: 72,779,125 (GRCm39)	Y1862F	probably benign	Het

Other mutations in Or6b13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01991:Or6b13	APN	7	139,782,345 (GRCm39)	missense	probably damaging	1.00
IGL01999:Or6b13	APN	7	139,782,345 (GRCm39)	missense	probably damaging	1.00
IGL02030:Or6b13	APN	7	139,782,545 (GRCm39)	missense	probably damaging	0.97
IGL02474:Or6b13	APN	7	139,782,500 (GRCm39)	missense	probably damaging	1.00
H8441:Or6b13	UTSW	7	139,781,871 (GRCm39)	missense	possibly damaging	0.81
R0426:Or6b13	UTSW	7	139,782,029 (GRCm39)	missense	possibly damaging	0.81
R0704:Or6b13	UTSW	7	139,782,548 (GRCm39)	missense	probably benign	0.00
R0891:Or6b13	UTSW	7	139,782,372 (GRCm39)	missense	probably damaging	1.00
R1624:Or6b13	UTSW	7	139,781,864 (GRCm39)	missense	probably damaging	0.96
R1865:Or6b13	UTSW	7	139,782,285 (GRCm39)	missense	probably damaging	1.00
R1938:Or6b13	UTSW	7	139,782,144 (GRCm39)	missense	probably benign	0.30
R2105:Or6b13	UTSW	7	139,782,656 (GRCm39)	missense	probably benign	0.02
R3009:Or6b13	UTSW	7	139,782,669 (GRCm39)	missense	probably benign
R3546:Or6b13	UTSW	7	139,782,014 (GRCm39)	missense	probably damaging	1.00
R4849:Or6b13	UTSW	7	139,782,340 (GRCm39)	nonsense	probably null
R5009:Or6b13	UTSW	7	139,781,751 (GRCm39)	missense	probably benign
R5105:Or6b13	UTSW	7	139,782,462 (GRCm39)	missense	probably damaging	1.00
R5413:Or6b13	UTSW	7	139,782,635 (GRCm39)	missense	possibly damaging	0.94
R5422:Or6b13	UTSW	7	139,782,305 (GRCm39)	missense	probably damaging	1.00
R7314:Or6b13	UTSW	7	139,782,326 (GRCm39)	missense	probably damaging	0.99
R7338:Or6b13	UTSW	7	139,782,446 (GRCm39)	missense	probably benign	0.01
R7921:Or6b13	UTSW	7	139,782,212 (GRCm39)	missense	probably damaging	1.00
R8438:Or6b13	UTSW	7	139,782,170 (GRCm39)	missense	probably damaging	1.00
R9261:Or6b13	UTSW	7	139,782,563 (GRCm39)	missense	probably benign	0.29
V1662:Or6b13	UTSW	7	139,781,871 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-04-16