Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Or7c19'

78799

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: 0.060) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

85957126-85958064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85957958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 278 (Y278F)

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: Y278F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: Y278F

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: Y278F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	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
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
IGL03130:Or7c19	APN	8	85,957,258 (GRCm39)	missense	possibly damaging	0.93
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

2013-11-05