Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Or5w19'

92434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5w19

Ensembl Gene

ENSMUSG00000045225

Gene Name

olfactory receptor family 5 subfamily W member 19

Synonyms

Olfr1152, MOR177-12, GA_x6K02T2Q125-49372426-49373358

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

87698337-87699269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87698488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 51 (D51A)

Ref Sequence

ENSEMBL: ENSMUSP00000151045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051058] [ENSMUST00000213308]

AlphaFold

Q7TR34

Predicted Effect

probably damaging
Transcript: ENSMUST00000051058
AA Change: D51A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054645
Gene: ENSMUSG00000045225
AA Change: D51A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4e-46	PFAM
Pfam:7tm_1	40	290	1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121994

Predicted Effect

probably damaging
Transcript: ENSMUST00000213308
AA Change: D51A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,261,265 (GRCm39)	A74V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1a3	G	A	7: 66,058,978 (GRCm39)	T239I	probably damaging	Het
Anxa9	A	G	3: 95,207,847 (GRCm39)		probably null	Het
Atp5me	C	A	5: 108,581,899 (GRCm39)	K28N	probably damaging	Het
C9	T	G	15: 6,489,149 (GRCm39)	Y169D	probably benign	Het
Chat	T	A	14: 32,168,849 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,874,479 (GRCm39)	E706K	probably benign	Het
Ctbs	A	G	3: 146,160,867 (GRCm39)	K145E	probably benign	Het
Dennd5a	A	G	7: 109,533,302 (GRCm39)	M156T	probably damaging	Het
Dhx29	A	G	13: 113,101,756 (GRCm39)	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,295,596 (GRCm39)	F517Y	probably benign	Het
Dst	G	A	1: 34,227,990 (GRCm39)	W1536*	probably null	Het
Galc	T	C	12: 98,218,340 (GRCm39)	T171A	possibly damaging	Het
Gsap	T	C	5: 21,431,246 (GRCm39)	I190T	probably damaging	Het
Hars2	A	T	18: 36,922,630 (GRCm39)	R388*	probably null	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Itgbl1	T	A	14: 124,065,211 (GRCm39)	S122T	possibly damaging	Het
Jhy	G	T	9: 40,872,260 (GRCm39)	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,795,525 (GRCm39)	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,802,119 (GRCm39)	I509N	probably damaging	Het
Lpar6	T	C	14: 73,476,506 (GRCm39)	S156P	probably damaging	Het
Man2c1	T	C	9: 57,048,840 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,409,285 (GRCm39)	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,091,290 (GRCm39)	C171S	probably benign	Het
Muc4	A	T	16: 32,577,001 (GRCm39)	Q2167L	unknown	Het
Myom1	T	C	17: 71,406,988 (GRCm39)	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,702,555 (GRCm39)	R101*	probably null	Het
Nxpe4	T	C	9: 48,305,440 (GRCm39)	S277P	possibly damaging	Het
Or1e35	T	C	11: 73,798,303 (GRCm39)	N5S	probably damaging	Het
Or2a52	T	A	6: 43,144,637 (GRCm39)	V215E	probably damaging	Het
Or52r1c	G	A	7: 102,735,582 (GRCm39)	V281I	probably benign	Het
Or5b106	T	A	19: 13,123,614 (GRCm39)	K136N	probably benign	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Prepl	A	G	17: 85,373,709 (GRCm39)	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,368,529 (GRCm39)	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,637,176 (GRCm39)	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,571,746 (GRCm39)	M100K	probably benign	Het
Sema3c	A	G	5: 17,877,504 (GRCm39)	N204D	probably damaging	Het
Susd4	A	G	1: 182,686,026 (GRCm39)		probably null	Het
Taar7f	G	T	10: 23,926,239 (GRCm39)	A278S	possibly damaging	Het
Tle4	T	A	19: 14,522,178 (GRCm39)	M122L	probably benign	Het
Trim9	C	T	12: 70,295,125 (GRCm39)	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,150,345 (GRCm39)	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,285,521 (GRCm39)	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,794,247 (GRCm39)		probably benign	Het
Zng1	T	C	19: 24,918,140 (GRCm39)	E210G	possibly damaging	Het

Other mutations in Or5w19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01418:Or5w19	APN	2	87,698,809 (GRCm39)	missense	probably benign	0.00
IGL02326:Or5w19	APN	2	87,699,019 (GRCm39)	missense	probably damaging	1.00
IGL03162:Or5w19	APN	2	87,698,484 (GRCm39)	missense	probably benign	0.00
IGL03189:Or5w19	APN	2	87,698,559 (GRCm39)	missense	possibly damaging	0.76
I2288:Or5w19	UTSW	2	87,698,479 (GRCm39)	missense	probably damaging	1.00
R0761:Or5w19	UTSW	2	87,698,880 (GRCm39)	missense	possibly damaging	0.88
R1558:Or5w19	UTSW	2	87,698,459 (GRCm39)	missense	probably damaging	1.00
R1938:Or5w19	UTSW	2	87,698,805 (GRCm39)	missense	probably benign	0.01
R3810:Or5w19	UTSW	2	87,698,745 (GRCm39)	missense	probably damaging	1.00
R3812:Or5w19	UTSW	2	87,698,745 (GRCm39)	missense	probably damaging	1.00
R4728:Or5w19	UTSW	2	87,698,779 (GRCm39)	missense	probably benign	0.13
R4928:Or5w19	UTSW	2	87,698,574 (GRCm39)	missense	probably benign	0.32
R5172:Or5w19	UTSW	2	87,699,171 (GRCm39)	missense	probably benign	0.20
R5174:Or5w19	UTSW	2	87,698,755 (GRCm39)	missense	possibly damaging	0.79
R6147:Or5w19	UTSW	2	87,699,061 (GRCm39)	missense	probably benign	0.03
R6195:Or5w19	UTSW	2	87,698,904 (GRCm39)	missense	possibly damaging	0.63
R6233:Or5w19	UTSW	2	87,698,904 (GRCm39)	missense	possibly damaging	0.63
R6541:Or5w19	UTSW	2	87,698,638 (GRCm39)	missense	probably benign	0.11
R7507:Or5w19	UTSW	2	87,698,713 (GRCm39)	missense	probably damaging	1.00
R8068:Or5w19	UTSW	2	87,698,995 (GRCm39)	missense	probably benign	0.20
R8407:Or5w19	UTSW	2	87,698,437 (GRCm39)	missense	probably damaging	1.00
R9110:Or5w19	UTSW	2	87,698,543 (GRCm39)	missense	probably damaging	1.00
R9408:Or5w19	UTSW	2	87,698,379 (GRCm39)	missense	probably damaging	1.00
R9797:Or5w19	UTSW	2	87,698,478 (GRCm39)	missense	possibly damaging	0.63

Posted On

2013-12-09