Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Or5w19'

358580

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

042020-MU

Accession Numbers

Essential gene?

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

Stock #

R4728 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87698337-87699269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87698779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000151045 (fasta)

Gene Model

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

AlphaFold

Q7TR34

Predicted Effect

probably benign
Transcript: ENSMUST00000051058
AA Change: V148A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054645
Gene: ENSMUSG00000045225
AA Change: V148A

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 benign
Transcript: ENSMUST00000213308
AA Change: V148A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,771,661 (GRCm39)		probably null	Het
Bpifc	T	A	10: 85,827,063 (GRCm39)	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,566,209 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cyth4	G	A	15: 78,486,913 (GRCm39)	G14R	probably benign	Het
Ddhd2	C	T	8: 26,242,294 (GRCm39)	V194I	probably damaging	Het
Ddx23	A	T	15: 98,548,106 (GRCm39)	V433E	probably damaging	Het
Defb34	A	G	8: 19,176,434 (GRCm39)	N42D	possibly damaging	Het
Dennd6a	A	G	14: 26,348,575 (GRCm39)	E313G	probably null	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Dnah3	T	C	7: 119,658,589 (GRCm39)	E864G	probably damaging	Het
Eps8	G	A	6: 137,486,160 (GRCm39)	Q451*	probably null	Het
Fmo9	A	T	1: 166,490,880 (GRCm39)	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,521,973 (GRCm39)	D537E	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gm9916	A	G	3: 118,228,690 (GRCm39)		noncoding transcript	Het
Grm5	T	A	7: 87,624,496 (GRCm39)	F354L	probably damaging	Het
Hira	C	T	16: 18,741,654 (GRCm39)	A353V	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Igf1r	T	C	7: 67,839,372 (GRCm39)	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,054,555 (GRCm39)	I463N	probably damaging	Het
Kcnh8	C	A	17: 53,032,898 (GRCm39)	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,415,873 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,484,329 (GRCm39)	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,399,606 (GRCm39)	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k9	C	T	12: 81,769,147 (GRCm39)	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,674,774 (GRCm39)	H414R	probably damaging	Het
Mier1	A	G	4: 102,997,402 (GRCm39)	E145G	probably damaging	Het
Mlc1	A	T	15: 88,862,234 (GRCm39)		probably null	Het
Napb	T	C	2: 148,551,245 (GRCm39)	D96G	probably damaging	Het
Nbas	T	A	12: 13,338,740 (GRCm39)	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,174,515 (GRCm39)	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,020,989 (GRCm39)	I492K	probably benign	Het
Notch4	A	G	17: 34,789,179 (GRCm39)	T497A	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ogdh	T	A	11: 6,292,549 (GRCm39)	Y417N	probably damaging	Het
Ovol1	A	T	19: 5,603,690 (GRCm39)	Y70*	probably null	Het
P2ry1	A	G	3: 60,911,641 (GRCm39)	Y260C	probably damaging	Het
Pcx	G	T	19: 4,653,124 (GRCm39)	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,131,402 (GRCm39)	T774S	probably benign	Het
Prdm15	T	G	16: 97,622,986 (GRCm39)	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,960,268 (GRCm39)	H91Q	probably benign	Het
Prmt5	C	T	14: 54,745,364 (GRCm39)	R601H	probably benign	Het
Prrc2b	T	A	2: 32,120,637 (GRCm39)	D2192E	probably damaging	Het
Ptdss2	A	G	7: 140,734,372 (GRCm39)	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,591 (GRCm39)	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,582,639 (GRCm39)	S35P	probably benign	Het
Serpina3n	A	T	12: 104,375,422 (GRCm39)	T165S	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,564,389 (GRCm39)	R267*	probably null	Het
Slc5a12	A	T	2: 110,474,769 (GRCm39)	K554*	probably null	Het
Snrnp200	T	C	2: 127,059,334 (GRCm39)	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,069,798 (GRCm39)	V981E	possibly damaging	Het
Spon2	T	A	5: 33,374,682 (GRCm39)	R41S	probably benign	Het
Sptb	A	T	12: 76,630,153 (GRCm39)	M2279K	probably benign	Het
Srcap	T	G	7: 127,140,096 (GRCm39)		probably null	Het
Tctn3	A	G	19: 40,594,186 (GRCm39)	V409A	probably damaging	Het
Tg	A	C	15: 66,554,676 (GRCm39)	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,340,874 (GRCm39)	D141G	probably benign	Het
Tmem82	A	G	4: 141,341,963 (GRCm39)	S334P	probably benign	Het
Ubr4	A	G	4: 139,151,190 (GRCm39)	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,806,362 (GRCm39)	R90L	probably damaging	Het
Zfp330	A	C	8: 83,497,475 (GRCm39)	Y56D	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGATGTTATTGGACCTGCTTGC -3'
(R):5'- TGAGATGGTGCTCAGTTCAATG -3'

Sequencing Primer
(F):5'- ATTGGACCTGCTTGCCAAGAG -3'
(R):5'- GGTGCTCAGTTCAATGAAACC -3'

Posted On

2015-11-11