Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Or5w19'

692180

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

068919-MU

Accession Numbers

Essential gene?

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

Stock #

R9110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87698337-87699269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87698543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 69 (D69E)

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: D69E

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

SMART Domains

Protein: ENSMUSP00000054645
Gene: ENSMUSG00000045225
AA Change: D69E

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: D69E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

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
Abca14	A	G	7: 119,831,615 (GRCm39)		probably benign	Het
Adam20	A	G	8: 41,248,907 (GRCm39)	D339G	probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Sfxn3	T	A	19: 45,038,727 (GRCm39)	N131K	probably damaging	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Slc20a2	T	C	8: 23,025,457 (GRCm39)	I53T	probably damaging	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Tmem87b	C	T	2: 128,684,615 (GRCm39)	Q459*	probably null	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	probably benign	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
R8407:Or5w19	UTSW	2	87,698,437 (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'- GAGTTCCTTTTCTTGGGAATTACC -3'
(R):5'- GGTAACACACCTTGCTGGAC -3'

Sequencing Primer
(F):5'- CCAATAATCCTGTGATCAAGGTG -3'
(R):5'- GCTGGACATATCTACTGCATATAGC -3'

Posted On

2021-12-30