Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03130:Or7c19'

410265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or7c19

Ensembl Gene

ENSMUSG00000051952

Gene Name

olfactory receptor family 7 subfamily C member 19

Synonyms

MOR141-3, Olfr371, GA_x6K02T2NUPS-13298842-13299780

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL03130

Quality Score

Status

Chromosome

Chromosomal Location

85957126-85958064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85957258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 45 (I45F)

Ref Sequence

ENSEMBL: ENSMUSP00000151714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]

AlphaFold

Q8VGB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070849
AA Change: I45F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: I45F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.1e-55	PFAM
Pfam:7TM_GPCR_Srx	32	305	2.2e-6	PFAM
Pfam:7TM_GPCR_Srsx	35	305	3.2e-8	PFAM
Pfam:7tm_1	41	290	9.2e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218663
AA Change: I45F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	G	T	10: 85,224,347 (GRCm39)		probably null	Het
Agtpbp1	T	C	13: 59,622,403 (GRCm39)	E941G	possibly damaging	Het
Akap11	A	T	14: 78,747,808 (GRCm39)	Y1526*	probably null	Het
Brd1	T	C	15: 88,572,577 (GRCm39)	I1165V	probably benign	Het
Cdan1	T	C	2: 120,558,393 (GRCm39)	D473G	possibly damaging	Het
Clstn3	G	A	6: 124,436,222 (GRCm39)	L176F	probably damaging	Het
Ctif	T	C	18: 75,654,689 (GRCm39)	N279S	probably benign	Het
Dpy19l3	A	G	7: 35,452,097 (GRCm39)	S16P	probably benign	Het
Ecpas	A	T	4: 58,800,288 (GRCm39)	C1806S	probably benign	Het
Fam151b	T	C	13: 92,586,701 (GRCm39)	Y244C	probably benign	Het
Gbf1	T	C	19: 46,255,787 (GRCm39)	M750T	possibly damaging	Het
Gm11564	T	A	11: 99,705,879 (GRCm39)	T184S	unknown	Het
Gnptab	A	G	10: 88,272,233 (GRCm39)	K958E	possibly damaging	Het
Hibch	T	C	1: 52,924,310 (GRCm39)	S162P	possibly damaging	Het
Itpr1	T	C	6: 108,500,362 (GRCm39)	S2651P	probably benign	Het
LTO1	A	G	7: 144,470,197 (GRCm39)	E42G	probably damaging	Het
Lyrm1	A	G	7: 119,513,403 (GRCm39)	D56G	probably damaging	Het
Manba	T	C	3: 135,256,920 (GRCm39)	Y528H	probably damaging	Het
Npas2	A	C	1: 39,352,109 (GRCm39)	E186D	probably damaging	Het
Or4f61	A	T	2: 111,922,166 (GRCm39)	D293E	probably benign	Het
Or7d11	C	A	9: 19,966,668 (GRCm39)	L30F	probably benign	Het
Pcdhb6	T	A	18: 37,468,640 (GRCm39)	Y520*	probably null	Het
Plekhm1	C	T	11: 103,268,207 (GRCm39)	R588H	probably benign	Het
Psg23	A	T	7: 18,344,341 (GRCm39)	H371Q	probably benign	Het
Ptpn12	T	C	5: 21,207,610 (GRCm39)		probably benign	Het
Rela	T	C	19: 5,689,909 (GRCm39)	C120R	probably damaging	Het
Rps6kc1	T	A	1: 190,532,008 (GRCm39)	I665F	probably damaging	Het
Spg21	A	G	9: 65,380,990 (GRCm39)	Q99R	probably benign	Het
St14	A	G	9: 31,008,367 (GRCm39)		probably null	Het
Sult1c2	A	T	17: 54,137,099 (GRCm39)	N274K	probably benign	Het
Syk	T	C	13: 52,776,768 (GRCm39)	V256A	probably benign	Het
Tcte1	A	G	17: 45,844,222 (GRCm39)	D66G	probably damaging	Het
Tgm4	C	T	9: 122,885,580 (GRCm39)	T374M	probably damaging	Het
Tns4	T	C	11: 98,959,095 (GRCm39)	H668R	probably damaging	Het
Tsn	C	T	1: 118,232,999 (GRCm39)	A102T	possibly damaging	Het
Uvssa	T	A	5: 33,549,189 (GRCm39)	S350T	possibly damaging	Het
Vmn1r3	T	A	4: 3,185,214 (GRCm39)	Y31F	possibly damaging	Het
Vmn2r114	A	T	17: 23,515,970 (GRCm39)		probably benign	Het
Vmn2r27	T	C	6: 124,169,276 (GRCm39)	D618G	possibly damaging	Het
Vmn2r91	T	A	17: 18,330,373 (GRCm39)		probably benign	Het
Vti1a	T	C	19: 55,380,279 (GRCm39)	Y143H	probably damaging	Het
Zfand4	T	A	6: 116,250,620 (GRCm39)	Y17N	probably damaging	Het
Zfp729a	T	C	13: 67,767,761 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,787,586 (GRCm39)	T251A	probably damaging	Het

Other mutations in Or7c19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Or7c19	APN	8	85,957,813 (GRCm39)	missense	probably benign	0.14
IGL01380:Or7c19	APN	8	85,957,775 (GRCm39)	missense	probably damaging	0.99
IGL01380:Or7c19	APN	8	85,957,958 (GRCm39)	missense	possibly damaging	0.95
IGL01680:Or7c19	APN	8	85,957,308 (GRCm39)	missense	probably benign
IGL01880:Or7c19	APN	8	85,957,712 (GRCm39)	missense	probably benign	0.00
IGL02194:Or7c19	APN	8	85,957,262 (GRCm39)	missense	possibly damaging	0.82
IGL02416:Or7c19	APN	8	85,957,662 (GRCm39)	nonsense	probably null
IGL02494:Or7c19	APN	8	85,957,312 (GRCm39)	missense	possibly damaging	0.95
IGL03072:Or7c19	APN	8	85,957,139 (GRCm39)	missense	probably benign	0.08
R0017:Or7c19	UTSW	8	85,957,706 (GRCm39)	missense	probably benign	0.25
R1157:Or7c19	UTSW	8	85,957,889 (GRCm39)	missense	probably damaging	0.98
R1165:Or7c19	UTSW	8	85,957,400 (GRCm39)	missense	probably damaging	0.98
R1730:Or7c19	UTSW	8	85,957,477 (GRCm39)	missense	probably benign	0.16
R2017:Or7c19	UTSW	8	85,957,373 (GRCm39)	missense	possibly damaging	0.91
R2426:Or7c19	UTSW	8	85,957,693 (GRCm39)	missense	probably damaging	0.97
R4447:Or7c19	UTSW	8	85,957,995 (GRCm39)	nonsense	probably null
R4703:Or7c19	UTSW	8	85,957,237 (GRCm39)	missense	possibly damaging	0.95
R4797:Or7c19	UTSW	8	85,957,567 (GRCm39)	missense	probably benign
R5029:Or7c19	UTSW	8	85,957,835 (GRCm39)	missense	probably benign	0.00
R5173:Or7c19	UTSW	8	85,957,205 (GRCm39)	missense	probably damaging	0.99
R6349:Or7c19	UTSW	8	85,957,787 (GRCm39)	missense	possibly damaging	0.93
R7754:Or7c19	UTSW	8	85,957,427 (GRCm39)	missense	possibly damaging	0.71
R8955:Or7c19	UTSW	8	85,957,913 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02