Mutagenetix > Incidental Mutation

Incidental Mutation 'R7173:Or5p64'

558427

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

045265-MU

Accession Numbers

Essential gene?

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

Stock #

R7173 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107854399-107855343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107854955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 130 (C130Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147652 (fasta)

Gene Model

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

AlphaFold

Q8VG02

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072968
AA Change: C130Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072735
Gene: ENSMUSG00000096465
AA Change: C130Y

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

possibly damaging
Transcript: ENSMUST00000211508
AA Change: C130Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215173
AA Change: C130Y

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,833,848 (GRCm39)	V403I	possibly damaging	Het
Actn1	G	A	12: 80,224,033 (GRCm39)	R475C	possibly damaging	Het
Adam11	T	C	11: 102,662,757 (GRCm39)	L191P	possibly damaging	Het
Adam21	G	T	12: 81,606,008 (GRCm39)	Q585K	probably benign	Het
Akap3	T	C	6: 126,841,729 (GRCm39)	V116A	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Alx4	G	T	2: 93,473,202 (GRCm39)	G67C	possibly damaging	Het
Ankrd17	A	T	5: 90,407,976 (GRCm39)	C1414S	possibly damaging	Het
Ankrd44	T	C	1: 54,805,550 (GRCm39)	D170G	probably damaging	Het
Arpc2	T	A	1: 74,303,531 (GRCm39)	M266K	probably damaging	Het
Atp12a	A	T	14: 56,621,837 (GRCm39)	N794I	probably damaging	Het
Cabin1	A	G	10: 75,582,396 (GRCm39)	L340P	probably benign	Het
Ccer1	A	T	10: 97,529,217 (GRCm39)		probably benign	Het
Cfap73	A	T	5: 120,772,279 (GRCm39)	Y8N	probably damaging	Het
Cfhr4	C	A	1: 139,659,415 (GRCm39)	E705*	probably null	Het
Cln3	T	C	7: 126,178,589 (GRCm39)	T173A	probably damaging	Het
Cxcl3	A	T	5: 90,934,008 (GRCm39)		probably benign	Het
Cyp2c66	G	C	19: 39,159,401 (GRCm39)	C284S	probably benign	Het
Dnajc22	T	C	15: 98,999,187 (GRCm39)	V124A	probably benign	Het
Dync1h1	C	G	12: 110,568,173 (GRCm39)	D45E	probably benign	Het
Elmod3	A	T	6: 72,554,235 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,649,945 (GRCm39)	V827G	probably damaging	Het
Esyt2	T	C	12: 116,327,154 (GRCm39)	I574T	probably benign	Het
Ext2	A	T	2: 93,643,957 (GRCm39)	I108N	probably damaging	Het
Fam186a	T	C	15: 99,843,531 (GRCm39)	I904M	unknown	Het
Fmnl2	T	C	2: 53,004,202 (GRCm39)	I638T	unknown	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Fras1	G	T	5: 96,925,937 (GRCm39)	A3714S	probably damaging	Het
Fsd1	C	A	17: 56,303,696 (GRCm39)	R479S	possibly damaging	Het
Gaa	C	T	11: 119,169,817 (GRCm39)	L624F	probably damaging	Het
Galnt2	G	A	8: 125,032,292 (GRCm39)	V86I	probably benign	Het
Gdap1l1	T	G	2: 163,280,608 (GRCm39)	V48G	probably damaging	Het
Gm10549	A	G	18: 33,597,462 (GRCm39)	T83A	unknown	Het
Gm11437	T	G	11: 84,055,374 (GRCm39)	T81P	probably benign	Het
Gm16253	T	C	3: 96,487,979 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,504,595 (GRCm39)	M83K	probably benign	Het
Grik5	T	C	7: 24,767,587 (GRCm39)	D31G	probably damaging	Het
Hcrtr2	A	G	9: 76,167,013 (GRCm39)	L108P	probably damaging	Het
Herc2	T	A	7: 55,853,575 (GRCm39)	L3689Q	probably damaging	Het
Igf2bp1	T	C	11: 95,859,290 (GRCm39)	M407V	probably benign	Het
Irgq	A	T	7: 24,233,185 (GRCm39)	E342V	probably damaging	Het
Itih2	A	T	2: 10,109,974 (GRCm39)	I593N	probably damaging	Het
Ivd	G	T	2: 118,701,870 (GRCm39)	G101C	probably damaging	Het
Jakmip1	G	A	5: 37,248,708 (GRCm39)	G123S	probably damaging	Het
Kif14	T	A	1: 136,406,908 (GRCm39)	I580N	probably damaging	Het
Kmt2e	A	T	5: 23,669,855 (GRCm39)	Y114F	probably damaging	Het
Ly6g5b	C	A	17: 35,333,680 (GRCm39)	C99F	probably damaging	Het
Map3k20	C	T	2: 72,271,758 (GRCm39)	P629S	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,582,862 (GRCm39)	F476L	probably damaging	Het
Mup18	T	C	4: 61,590,199 (GRCm39)	T110A	probably benign	Het
Nlrp9a	A	G	7: 26,257,603 (GRCm39)	D407G	probably benign	Het
Nmur1	G	A	1: 86,314,190 (GRCm39)	R359C	probably benign	Het
Or5ac24	T	C	16: 59,165,510 (GRCm39)	T185A	probably benign	Het
Panx3	A	T	9: 37,572,596 (GRCm39)	M318K	probably damaging	Het
Pcnx1	T	C	12: 81,999,777 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,241 (GRCm39)	Y1063C	possibly damaging	Het
Psme3ip1	A	T	8: 95,315,486 (GRCm39)	F15L	probably damaging	Het
Rere	G	A	4: 150,553,195 (GRCm39)	R129H	probably damaging	Het
Rpgrip1	A	G	14: 52,349,633 (GRCm39)	Y7C	possibly damaging	Het
Serpina6	T	C	12: 103,613,253 (GRCm39)	N349S	possibly damaging	Het
Slc10a1	T	G	12: 81,002,750 (GRCm39)	E296A	probably damaging	Het
Slc2a9	A	T	5: 38,610,214 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,873,221 (GRCm39)	M138K	probably benign	Het
Tbl3	T	C	17: 24,924,233 (GRCm39)	T175A	probably benign	Het
Tbrg4	T	C	11: 6,570,810 (GRCm39)	T221A	possibly damaging	Het
Tenm2	T	C	11: 35,932,378 (GRCm39)	T1739A	probably damaging	Het
Tmed5	T	C	5: 108,280,187 (GRCm39)	D35G	probably benign	Het
Tnfsf15	A	T	4: 63,647,889 (GRCm39)	S250R	probably damaging	Het
Tnpo2	G	T	8: 85,781,707 (GRCm39)	V830F	probably benign	Het
Ttbk2	G	T	2: 120,570,592 (GRCm39)	S1187Y	probably damaging	Het
Ttn	G	A	2: 76,625,029 (GRCm39)	T15183M	possibly damaging	Het
Tubgcp3	T	C	8: 12,689,259 (GRCm39)		probably null	Het
Vmn1r38	T	C	6: 66,753,278 (GRCm39)	I279M	possibly damaging	Het
Vmn1r49	A	T	6: 90,049,250 (GRCm39)	Y251N	possibly damaging	Het
Vmn1r66	C	T	7: 10,008,482 (GRCm39)	V184I	probably benign	Het
Vmn2r26	T	A	6: 124,038,255 (GRCm39)	M610K	probably benign	Het
Xrn2	C	T	2: 146,884,013 (GRCm39)	P591S	probably damaging	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
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
R9358:Or5p64	UTSW	7	107,854,799 (GRCm39)	missense	probably damaging	0.99
R9715:Or5p64	UTSW	7	107,855,198 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TCCAGAGACACTCGCATCAG -3'
(R):5'- TCAGCCACTTAGCTACTGTTGAC -3'

Sequencing Primer
(F):5'- CTCGCATCAGAACAGGAGAGTTC -3'
(R):5'- GCCACTTAGCTACTGTTGACCTAGG -3'

Posted On

2019-06-26