Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Or5p64'

708526

Institutional Source

Beutler Lab

Gene Symbol

Or5p64

Ensembl Gene

ENSMUSG00000096465

Gene Name

olfactory receptor family 5 subfamily P member 64

Synonyms

Olfr488, MOR204-15, GA_x6K02T2PBJ9-10586187-10585243

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R9358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107854399-107855343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107854799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 182 (C182Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072968] [ENSMUST00000211508] [ENSMUST00000215173]

AlphaFold

Q8VG02

Predicted Effect

probably damaging
Transcript: ENSMUST00000072968
AA Change: C182Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: C182Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	5.7e-53	PFAM
Pfam:7tm_1	44	293	2.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211508
AA Change: C182Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215173
AA Change: C182Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,474,976 (GRCm39)	K149*	probably null	Het
Ap3m2	G	A	8: 23,280,959 (GRCm39)	S365F	possibly damaging	Het
Apob	T	A	12: 8,060,833 (GRCm39)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,492,628 (GRCm39)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,450,653 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Cachd1	G	A	4: 100,833,622 (GRCm39)	V800M	probably damaging	Het
Camta1	A	G	4: 151,222,881 (GRCm39)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,962,987 (GRCm39)	R466*	probably null	Het
Cilp	A	G	9: 65,183,269 (GRCm39)	Q391R	probably benign	Het
Cracd	A	T	5: 77,002,836 (GRCm39)	I137F	probably damaging	Het
Ctcfl	T	A	2: 172,960,581 (GRCm39)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,536,598 (GRCm39)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,406,592 (GRCm39)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,902,668 (GRCm39)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,883,561 (GRCm39)	H578Q		Het
Fer	T	C	17: 64,280,076 (GRCm39)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,505,556 (GRCm39)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,935,422 (GRCm39)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,238,127 (GRCm39)	D304E	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpatch4	G	T	3: 87,962,452 (GRCm39)	E222*	probably null	Het
Heatr1	A	T	13: 12,433,087 (GRCm39)	T1146S	probably benign	Het
Hrc	A	C	7: 44,985,984 (GRCm39)	E378D	probably benign	Het
Hspg2	G	T	4: 137,244,909 (GRCm39)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 67,993,756 (GRCm39)	M11V	probably benign	Het
Itih3	T	A	14: 30,643,885 (GRCm39)	K75*	probably null	Het
Jag1	A	G	2: 136,924,948 (GRCm39)	V1218A	probably benign	Het
Kif28	C	T	1: 179,563,695 (GRCm39)	D94N	probably benign	Het
Lama2	G	A	10: 27,064,378 (GRCm39)	T1201M	possibly damaging	Het
Lama2	A	G	10: 27,492,761 (GRCm39)	L11P	unknown	Het
Lrfn2	T	C	17: 49,403,530 (GRCm39)	V551A	probably damaging	Het
Lrrc8d	A	G	5: 105,960,358 (GRCm39)	N256S	probably benign	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mon2	A	G	10: 122,868,452 (GRCm39)	S534P	probably benign	Het
Mrps5	T	A	2: 127,437,734 (GRCm39)	I187N	probably benign	Het
Mto1	A	G	9: 78,364,840 (GRCm39)	M360V	probably benign	Het
Muc16	T	G	9: 18,553,520 (GRCm39)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,520 (GRCm39)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,943,269 (GRCm39)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,298,080 (GRCm39)	V652D	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncapd2	A	T	6: 125,163,106 (GRCm39)	M134K	probably benign	Het
Nup107	A	G	10: 117,586,868 (GRCm39)	F893S	probably damaging	Het
Or10j3	A	T	1: 173,031,741 (GRCm39)	R273W	probably damaging	Het
Or11h23	A	G	14: 50,947,802 (GRCm39)	E5G	probably benign	Het
Or1e35	A	T	11: 73,797,451 (GRCm39)	I289N	probably damaging	Het
Or4f14b	A	G	2: 111,775,429 (GRCm39)	V124A	probably benign	Het
Pcgf1	G	T	6: 83,056,433 (GRCm39)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,448,533 (GRCm39)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,207,064 (GRCm39)	Q6*	probably null	Het
Plcl1	T	C	1: 55,735,810 (GRCm39)	S384P	probably damaging	Het
Serpina1b	T	A	12: 103,694,653 (GRCm39)	T364S	possibly damaging	Het
Slc5a11	C	T	7: 122,857,775 (GRCm39)	T288I	probably damaging	Het
Slc6a1	A	T	6: 114,291,271 (GRCm39)	S515C	probably damaging	Het
Snca	A	T	6: 60,710,121 (GRCm39)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,200,814 (GRCm39)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,890,729 (GRCm39)	L389Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm39)	I2501S	possibly damaging	Het
Tmem191	A	G	16: 17,094,257 (GRCm39)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,869,677 (GRCm39)	N197K	probably benign	Het
Tmem207	A	T	16: 26,345,434 (GRCm39)	S11T	probably benign	Het
Ttn	T	C	2: 76,564,953 (GRCm39)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vac14	G	A	8: 111,439,379 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,477,197 (GRCm39)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,452,236 (GRCm39)	H472L	probably benign	Het
Vps45	C	T	3: 95,940,976 (GRCm39)		probably null	Het
Wdr26	T	C	1: 181,019,423 (GRCm39)	H334R	probably damaging	Het
Zfp268	A	T	4: 145,349,613 (GRCm39)	Y350F	possibly damaging	Het
Zmynd10	A	G	9: 107,426,249 (GRCm39)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,444,774 (GRCm39)	T123A	probably benign	Het

Other mutations in Or5p64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Or5p64	APN	7	107,854,742 (GRCm39)	missense	possibly damaging	0.89
IGL02510:Or5p64	APN	7	107,855,348 (GRCm39)	utr 5 prime	probably benign
IGL02943:Or5p64	APN	7	107,854,623 (GRCm39)	missense	possibly damaging	0.80
IGL02962:Or5p64	APN	7	107,854,910 (GRCm39)	missense	possibly damaging	0.78
PIT4472001:Or5p64	UTSW	7	107,855,310 (GRCm39)	missense	possibly damaging	0.46
R0980:Or5p64	UTSW	7	107,855,229 (GRCm39)	small deletion	probably benign
R0981:Or5p64	UTSW	7	107,855,229 (GRCm39)	small deletion	probably benign
R0981:Or5p64	UTSW	7	107,855,228 (GRCm39)	small deletion	probably benign
R1957:Or5p64	UTSW	7	107,854,403 (GRCm39)	nonsense	probably null
R3147:Or5p64	UTSW	7	107,854,883 (GRCm39)	missense	possibly damaging	0.89
R4163:Or5p64	UTSW	7	107,855,039 (GRCm39)	missense	probably benign	0.06
R4190:Or5p64	UTSW	7	107,855,330 (GRCm39)	missense	probably benign
R4911:Or5p64	UTSW	7	107,855,244 (GRCm39)	missense	possibly damaging	0.81
R5274:Or5p64	UTSW	7	107,854,842 (GRCm39)	missense	probably benign	0.02
R5684:Or5p64	UTSW	7	107,855,246 (GRCm39)	missense	possibly damaging	0.75
R6394:Or5p64	UTSW	7	107,854,970 (GRCm39)	missense	possibly damaging	0.95
R6467:Or5p64	UTSW	7	107,855,109 (GRCm39)	missense	probably damaging	0.99
R7173:Or5p64	UTSW	7	107,854,955 (GRCm39)	missense	possibly damaging	0.78
R7317:Or5p64	UTSW	7	107,854,425 (GRCm39)	missense	probably benign	0.00
R7348:Or5p64	UTSW	7	107,855,330 (GRCm39)	missense	probably benign
R7485:Or5p64	UTSW	7	107,855,045 (GRCm39)	missense	probably damaging	1.00
R9715:Or5p64	UTSW	7	107,855,198 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GTAGGTGGACTTTGGCATCAC -3'
(R):5'- ATCGCTTCATGGCAATCTGC -3'

Sequencing Primer
(F):5'- TAGTTCCATAGTAGAGAGTGACTGC -3'
(R):5'- AATCTGCAACCCACTGCTTTATTC -3'

Posted On

2022-04-18