Mutagenetix > Incidental Mutation

Incidental Mutation 'R4591:Or5ac19'

342863

Institutional Source

Beutler Lab

Gene Symbol

Or5ac19

Ensembl Gene

ENSMUSG00000074995

Gene Name

olfactory receptor family 5 subfamily AC member 19

Synonyms

Olfr201, MOR182-2, GA_x54KRFPKG5P-55483936-55483010

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R4591 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59089102-59090028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59089776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 85 (F85V)

Ref Sequence

ENSEMBL: ENSMUSP00000150660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099656] [ENSMUST00000216834]

AlphaFold

Q7TS38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099656
AA Change: F85V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097248
Gene: ENSMUSG00000074995
AA Change: F85V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-46	PFAM
Pfam:7tm_1	41	290	8e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216834
AA Change: F85V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,599 (GRCm39)	S187P	possibly damaging	Het
4932438H23Rik	T	C	16: 90,852,959 (GRCm39)	N59S	probably damaging	Het
Abca15	A	T	7: 119,981,636 (GRCm39)	D1030V	probably damaging	Het
Acmsd	A	T	1: 127,676,934 (GRCm39)	N153I	probably damaging	Het
Adprh	C	A	16: 38,266,345 (GRCm39)	V266L	probably benign	Het
Aldh5a1	G	A	13: 25,107,991 (GRCm39)	P217S	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Alyref	C	T	11: 120,486,799 (GRCm39)	R154Q	probably benign	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Aox3	A	T	1: 58,191,815 (GRCm39)	I456F	probably damaging	Het
Art4	A	G	6: 136,831,755 (GRCm39)	Y129H	probably damaging	Het
Asb16	C	A	11: 102,167,551 (GRCm39)	H306N	probably damaging	Het
Atp8a2	C	A	14: 59,892,078 (GRCm39)	R1090L	probably benign	Het
Brap	G	T	5: 121,800,113 (GRCm39)	V1F	probably null	Het
C1qb	C	A	4: 136,609,528 (GRCm39)	G31W	probably damaging	Het
Cacna2d4	T	C	6: 119,275,425 (GRCm39)	Y666H	probably benign	Het
Casr	T	C	16: 36,320,732 (GRCm39)	N472S	probably benign	Het
Ccdc91	T	G	6: 147,491,963 (GRCm39)	S282A	unknown	Het
Cd300lg	A	G	11: 101,937,006 (GRCm39)	T164A	probably benign	Het
Cd79b	A	T	11: 106,202,872 (GRCm39)	D243E	probably damaging	Het
Cdh6	C	A	15: 13,051,572 (GRCm39)	V354F	possibly damaging	Het
Cdhr2	A	G	13: 54,863,497 (GRCm39)	N126S	probably benign	Het
Cep192	A	T	18: 67,968,039 (GRCm39)	N841I	probably damaging	Het
Cngb1	T	C	8: 95,980,012 (GRCm39)	T963A	probably damaging	Het
Col16a1	A	G	4: 129,955,592 (GRCm39)		probably null	Het
Coro1a	A	G	7: 126,302,164 (GRCm39)	V61A	probably damaging	Het
Crocc	T	A	4: 140,745,983 (GRCm39)	D1712V	probably damaging	Het
Ddn	T	C	15: 98,705,687 (GRCm39)	D3G	possibly damaging	Het
Dnal1	T	C	12: 84,180,627 (GRCm39)	F89S	probably benign	Het
Dusp3	T	A	11: 101,864,446 (GRCm39)		probably benign	Het
Dyrk3	C	A	1: 131,057,895 (GRCm39)	G58C	probably damaging	Het
Fat1	T	C	8: 45,479,279 (GRCm39)	F2775S	probably benign	Het
Frk	A	G	10: 34,481,829 (GRCm39)	N373S	probably benign	Het
Glmn	A	G	5: 107,708,917 (GRCm39)		probably null	Het
Gm11565	A	T	11: 99,805,769 (GRCm39)	T54S	possibly damaging	Het
Gm14410	A	G	2: 176,885,820 (GRCm39)	I148T	possibly damaging	Het
Gm21834	T	A	17: 58,048,880 (GRCm39)	H112L	possibly damaging	Het
Gm5862	A	G	5: 26,224,486 (GRCm39)	I161T	possibly damaging	Het
Grid2	G	T	6: 64,297,086 (GRCm39)	G483V	probably damaging	Het
Hfm1	A	T	5: 106,995,533 (GRCm39)	S1293T	probably benign	Het
Il1a	G	A	2: 129,148,447 (GRCm39)	R88W	probably damaging	Het
Il20rb	A	T	9: 100,357,043 (GRCm39)	V29D	possibly damaging	Het
Ilvbl	C	T	10: 78,419,139 (GRCm39)	L463F	probably benign	Het
Kif17	A	G	4: 138,005,110 (GRCm39)	E225G	probably benign	Het
Lrp2	A	G	2: 69,366,419 (GRCm39)	F227L	probably damaging	Het
Lrrc43	A	G	5: 123,639,227 (GRCm39)	M419V	probably benign	Het
Magel2	A	G	7: 62,030,837 (GRCm39)	Q1247R	unknown	Het
Mamdc4	T	A	2: 25,454,609 (GRCm39)	M1068L	possibly damaging	Het
Mdn1	T	G	4: 32,707,636 (GRCm39)	S1642A	probably damaging	Het
Mtarc1	T	C	1: 184,539,365 (GRCm39)	E102G	probably benign	Het
Mtcl1	T	C	17: 66,655,506 (GRCm39)	E819G	probably benign	Het
Naa15	T	C	3: 51,349,345 (GRCm39)	L38P	probably damaging	Het
Nlrp3	A	G	11: 59,440,048 (GRCm39)	R542G	probably benign	Het
Or10c1	C	T	17: 37,522,010 (GRCm39)	V245I	probably benign	Het
Or4d2b	A	G	11: 87,780,375 (GRCm39)	S116P	probably benign	Het
Or5b125-ps1	ACAC	ACACGCAC	19: 13,056,266 (GRCm39)		noncoding transcript	Het
Pbxip1	T	A	3: 89,353,467 (GRCm39)	L249Q	probably benign	Het
Pla2g7	T	C	17: 43,911,450 (GRCm39)	S201P	probably damaging	Het
Psmd1	G	T	1: 86,055,926 (GRCm39)	V763F	probably benign	Het
Ptp4a2	A	G	4: 129,740,308 (GRCm39)	E124G	probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rbks	T	A	5: 31,817,352 (GRCm39)	K139M	possibly damaging	Het
Rgs22	T	A	15: 36,100,282 (GRCm39)	E268D	probably benign	Het
Slc16a9	T	G	10: 70,118,710 (GRCm39)	L343R	probably damaging	Het
Smagp	T	C	15: 100,519,860 (GRCm39)	I55V	probably damaging	Het
Sox13	T	C	1: 133,311,421 (GRCm39)	S604G	probably damaging	Het
St6gal1	G	T	16: 23,140,044 (GRCm39)	V72F	probably benign	Het
Stxbp4	A	G	11: 90,485,606 (GRCm39)	V247A	probably benign	Het
Susd3	A	T	13: 49,384,736 (GRCm39)	M217K	possibly damaging	Het
Tas2r129	T	A	6: 132,928,574 (GRCm39)	N170K	probably benign	Het
Tmem245	C	A	4: 56,910,204 (GRCm39)	A515S	probably damaging	Het
Tpte	T	C	8: 22,817,791 (GRCm39)	V259A	probably benign	Het
Trpa1	T	C	1: 14,952,332 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,371,147 (GRCm39)	R532H	probably damaging	Het
Vwa5a	A	T	9: 38,646,916 (GRCm39)	N529I	possibly damaging	Het
Zfp574	T	C	7: 24,778,969 (GRCm39)		probably benign	Het

Other mutations in Or5ac19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Or5ac19	APN	16	59,089,213 (GRCm39)	missense	probably benign	0.07
IGL01985:Or5ac19	APN	16	59,089,442 (GRCm39)	missense	probably benign
IGL02618:Or5ac19	APN	16	59,089,290 (GRCm39)	missense	probably damaging	1.00
IGL02830:Or5ac19	APN	16	59,089,416 (GRCm39)	missense	possibly damaging	0.94
PIT4449001:Or5ac19	UTSW	16	59,089,493 (GRCm39)	missense	probably damaging	1.00
R0047:Or5ac19	UTSW	16	59,089,574 (GRCm39)	missense	probably damaging	1.00
R0047:Or5ac19	UTSW	16	59,089,574 (GRCm39)	missense	probably damaging	1.00
R1035:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1037:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1163:Or5ac19	UTSW	16	59,089,518 (GRCm39)	missense	probably benign	0.23
R1225:Or5ac19	UTSW	16	59,089,587 (GRCm39)	missense	probably benign
R1519:Or5ac19	UTSW	16	59,089,307 (GRCm39)	missense	probably damaging	1.00
R1583:Or5ac19	UTSW	16	59,089,394 (GRCm39)	missense	probably benign	0.00
R2075:Or5ac19	UTSW	16	59,089,274 (GRCm39)	missense	possibly damaging	0.60
R5547:Or5ac19	UTSW	16	59,089,479 (GRCm39)	missense	probably benign	0.35
R6132:Or5ac19	UTSW	16	59,089,367 (GRCm39)	missense	probably damaging	0.97
R6737:Or5ac19	UTSW	16	59,089,175 (GRCm39)	missense	possibly damaging	0.60
R6872:Or5ac19	UTSW	16	59,089,961 (GRCm39)	missense	probably benign	0.20
R8001:Or5ac19	UTSW	16	59,089,472 (GRCm39)	missense	probably benign	0.01
R8525:Or5ac19	UTSW	16	59,089,571 (GRCm39)	missense	probably benign	0.07
R9003:Or5ac19	UTSW	16	59,089,263 (GRCm39)	missense	probably benign	0.05
R9260:Or5ac19	UTSW	16	59,089,677 (GRCm39)	missense	probably damaging	0.98
R9584:Or5ac19	UTSW	16	59,089,580 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CACGGCTATAAACTGAGTACAGAG -3'
(R):5'- AAACCGCACTCTGGTCACTG -3'

Sequencing Primer
(F):5'- ACTGAGTACAGAGTCTATTAGACATC -3'
(R):5'- GCTAAAGGCTGCCCTGTTC -3'

Posted On

2015-09-24