Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Or5w19'

652456

Institutional Source

Beutler Lab

Gene Symbol

Or5w19

Ensembl Gene

ENSMUSG00000045225

Gene Name

olfactory receptor family 5 subfamily W member 19

Synonyms

Olfr1152, MOR177-12, GA_x6K02T2Q125-49372426-49373358

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

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

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87698337-87699269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87698437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 34 (Y34S)

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: Y34S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054645
Gene: ENSMUSG00000045225
AA Change: Y34S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213308
AA Change: Y34S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Calhm2	G	A	19: 47,098,755 (GRCm39)	Q310*	probably null	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Ldlrap1	T	C	4: 134,484,736 (GRCm39)	K86R	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lmod1	C	A	1: 135,292,734 (GRCm39)	P530T	possibly damaging	Het
Lmod1	A	G	1: 135,291,763 (GRCm39)	K206R	probably benign	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prelid1	T	A	13: 55,470,672 (GRCm39)	H33Q	probably damaging	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,143,589 (GRCm39)	S369P	probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	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
IGL01618:Or5w19	APN	2	87,698,488 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTATAGACACAATGTAGGTCG -3'
(R):5'- ATTGAATTGCTGCTCTTGGC -3'

Sequencing Primer
(F):5'- CAATGTAGGTCGACTATATTAGACAC -3'
(R):5'- GGCAAGCAGGTCCAATAACATCTTTG -3'

Posted On

2020-10-20