Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Or6b13'

294872

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 #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

139781299-139785192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139782500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 61 (Y61C)

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: Y61C

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

SMART Domains

Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: Y61C

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: Y61C

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,038,491 (GRCm39)	E283G	probably damaging	Het
Ahnak	A	G	19: 8,982,297 (GRCm39)	I1194V	probably benign	Het
Aqr	T	A	2: 113,943,127 (GRCm39)	N1149Y	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Cacna1s	A	C	1: 136,046,118 (GRCm39)	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,883,397 (GRCm39)	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Cramp1	A	G	17: 25,204,024 (GRCm39)	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,214,975 (GRCm39)	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,708 (GRCm39)	D439G	possibly damaging	Het
Dnah11	T	A	12: 117,991,180 (GRCm39)		probably null	Het
Dyrk4	C	A	6: 126,857,194 (GRCm39)	C495F	probably damaging	Het
Gabra6	A	G	11: 42,198,244 (GRCm39)	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538 (GRCm39)	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,242,433 (GRCm39)		probably benign	Het
Ginm1	A	G	10: 7,653,532 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,394,217 (GRCm39)	D282E	probably damaging	Het
Gm5799	T	C	14: 43,782,086 (GRCm39)	I86T	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gng12	A	G	6: 66,992,745 (GRCm39)	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,426,182 (GRCm39)	D556E	probably benign	Het
Kat6b	T	A	14: 21,719,107 (GRCm39)	L1153Q	possibly damaging	Het
Ly75	A	T	2: 60,213,526 (GRCm39)	L17Q	probably null	Het
Mc5r	T	C	18: 68,471,910 (GRCm39)	F90L	probably damaging	Het
Or1x2	C	A	11: 50,918,192 (GRCm39)	A121D	probably damaging	Het
Or5k8	A	T	16: 58,645,019 (GRCm39)	S18T	probably benign	Het
Or7c70	A	T	10: 78,682,897 (GRCm39)	M284K	probably damaging	Het
Or8b9	A	T	9: 37,766,656 (GRCm39)	I181L	probably benign	Het
Pi4ka	A	T	16: 17,143,293 (GRCm39)	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,775,820 (GRCm39)		probably null	Het
Psme3	A	G	11: 101,208,480 (GRCm39)	Q82R	probably benign	Het
Rab11a	G	T	9: 64,633,929 (GRCm39)	T17K	possibly damaging	Het
Rbm12	A	T	2: 155,940,017 (GRCm39)	L85Q	probably damaging	Het
Skap1	A	T	11: 96,599,512 (GRCm39)	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,326,536 (GRCm39)	F34I	probably damaging	Het
Trip12	A	C	1: 84,771,854 (GRCm39)	I98S	probably benign	Het
Ttn	T	C	2: 76,708,532 (GRCm39)		probably benign	Het
Ube2t	A	T	1: 134,899,079 (GRCm39)	K21*	probably null	Het
Vmn1r216	T	C	13: 23,283,647 (GRCm39)	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,150 (GRCm39)	F736I	probably benign	Het
Vps13c	A	G	9: 67,845,158 (GRCm39)	T2081A	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	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
IGL02005: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
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