Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Or5p70'

485308

Institutional Source

Beutler Lab

Gene Symbol

Or5p70

Ensembl Gene

ENSMUSG00000110253

Gene Name

olfactory receptor family 5 subfamily P member 70

Synonyms

MOR204-37, Olfr495, GA_x6K02T2PBJ9-10725148-10726140

MMRRC Submission

044252-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107994329-107995321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107994491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 55 (S55P)

Ref Sequence

ENSEMBL: ENSMUSP00000150689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210990] [ENSMUST00000215215]

AlphaFold

Q8VF12

Predicted Effect

probably damaging
Transcript: ENSMUST00000210990
AA Change: S55P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215215
AA Change: S55P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,210,849 (GRCm39)	I290T	possibly damaging	Het
Apeh	T	A	9: 107,963,638 (GRCm39)	D559V	probably damaging	Het
Aspm	T	A	1: 139,405,197 (GRCm39)	Y1361*	probably null	Het
Atad5	G	T	11: 80,002,398 (GRCm39)		probably null	Het
Ccr4	C	T	9: 114,325,561 (GRCm39)		probably null	Het
Clasrp	G	A	7: 19,320,393 (GRCm39)		probably benign	Het
Cldn23	A	G	8: 36,292,705 (GRCm39)	M261T	probably benign	Het
Cmya5	T	C	13: 93,230,739 (GRCm39)	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,773,197 (GRCm39)	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Dnah9	A	G	11: 65,881,342 (GRCm39)	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,180,165 (GRCm39)	Y196F	probably benign	Het
Exoc1	T	C	5: 76,685,626 (GRCm39)	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Frs3	C	T	17: 48,013,596 (GRCm39)	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,644,260 (GRCm39)	T323K	probably benign	Het
Golgb1	T	C	16: 36,733,227 (GRCm39)	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,812,681 (GRCm39)	C11*	probably null	Het
Ighv3-3	G	C	12: 114,160,080 (GRCm39)	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,312,853 (GRCm39)	H107Y	probably benign	Het
Kcnj16	A	G	11: 110,916,403 (GRCm39)	E355G	probably benign	Het
Lig4	C	T	8: 10,022,872 (GRCm39)	G303S	probably damaging	Het
Map1b	A	C	13: 99,562,381 (GRCm39)	V2443G	unknown	Het
Map3k6	T	C	4: 132,974,442 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,276,688 (GRCm39)	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,435,772 (GRCm39)	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,897 (GRCm39)	F10I	possibly damaging	Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Mtmr3	T	C	11: 4,437,673 (GRCm39)	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211 (GRCm39)	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,361,427 (GRCm39)		probably benign	Het
Or5i1	T	C	2: 87,613,192 (GRCm39)	F103L	probably damaging	Het
Or7g34	T	C	9: 19,478,318 (GRCm39)	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,785,828 (GRCm39)	V134G	possibly damaging	Het
Pax3	T	C	1: 78,108,984 (GRCm39)	T225A	probably damaging	Het
Pbx1	C	A	1: 168,011,134 (GRCm39)	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,279,335 (GRCm39)	K772*	probably null	Het
Pcsk4	A	T	10: 80,161,651 (GRCm39)	Y163*	probably null	Het
Plcd3	A	G	11: 102,971,470 (GRCm39)	V58A	probably damaging	Het
Plek2	T	A	12: 78,946,867 (GRCm39)	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,169,721 (GRCm39)	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,284,768 (GRCm39)	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022 (GRCm39)		probably benign	Het
Psme4	T	A	11: 30,815,567 (GRCm39)	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,830,313 (GRCm39)	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Serpina3b	A	T	12: 104,100,428 (GRCm39)	T337S	probably benign	Het
Slc18a2	T	C	19: 59,282,310 (GRCm39)	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,818,482 (GRCm39)	Y292C	probably benign	Het
Spta1	T	C	1: 174,052,086 (GRCm39)	V1840A	probably benign	Het
Ssb	T	C	2: 69,701,552 (GRCm39)	*416Q	probably null	Het
Strada	A	G	11: 106,059,262 (GRCm39)	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,799,489 (GRCm39)	D225V	probably damaging	Het
Tgm4	T	C	9: 122,885,600 (GRCm39)	F381L	probably benign	Het
Tmem120b	T	A	5: 123,253,207 (GRCm39)	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,812,868 (GRCm39)	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,747,671 (GRCm39)	L201M	possibly damaging	Het
Ttn	C	A	2: 76,804,694 (GRCm39)		probably null	Het
Tubb2a	T	C	13: 34,259,326 (GRCm39)	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,963,099 (GRCm39)	D258G	probably damaging	Het
Vmn2r121	T	C	X: 123,043,272 (GRCm39)	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,306,907 (GRCm39)	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,375,361 (GRCm39)		probably null	Het
Zfp273	A	G	13: 67,970,466 (GRCm39)	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp825	A	G	13: 74,628,772 (GRCm39)	L248P	probably damaging	Het

Other mutations in Or5p70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Or5p70	APN	7	107,994,452 (GRCm39)	missense	probably benign	0.31
IGL02430:Or5p70	APN	7	107,994,929 (GRCm39)	missense	probably benign	0.01
IGL02511:Or5p70	APN	7	107,995,265 (GRCm39)	missense	probably benign	0.06
IGL02932:Or5p70	APN	7	107,994,720 (GRCm39)	missense	probably benign	0.03
IGL03222:Or5p70	APN	7	107,994,393 (GRCm39)	missense	possibly damaging	0.77
FR4340:Or5p70	UTSW	7	107,995,105 (GRCm39)	missense	probably benign
FR4340:Or5p70	UTSW	7	107,995,100 (GRCm39)	missense	probably benign
FR4342:Or5p70	UTSW	7	107,995,105 (GRCm39)	missense	probably benign
FR4342:Or5p70	UTSW	7	107,995,100 (GRCm39)	missense	probably benign
R0141:Or5p70	UTSW	7	107,994,575 (GRCm39)	missense	probably benign	0.06
R0600:Or5p70	UTSW	7	107,994,438 (GRCm39)	missense	probably damaging	0.98
R0635:Or5p70	UTSW	7	107,994,971 (GRCm39)	missense	probably benign	0.01
R0685:Or5p70	UTSW	7	107,994,470 (GRCm39)	missense	possibly damaging	0.67
R1220:Or5p70	UTSW	7	107,994,539 (GRCm39)	missense	probably benign	0.03
R1398:Or5p70	UTSW	7	107,994,708 (GRCm39)	missense	probably damaging	0.98
R1501:Or5p70	UTSW	7	107,995,289 (GRCm39)	missense	probably benign	0.00
R1990:Or5p70	UTSW	7	107,995,041 (GRCm39)	missense	probably benign	0.00
R2091:Or5p70	UTSW	7	107,995,068 (GRCm39)	missense	probably damaging	1.00
R2473:Or5p70	UTSW	7	107,994,711 (GRCm39)	missense	probably damaging	1.00
R3120:Or5p70	UTSW	7	107,994,930 (GRCm39)	missense	possibly damaging	0.67
R4771:Or5p70	UTSW	7	107,995,229 (GRCm39)	nonsense	probably null
R5240:Or5p70	UTSW	7	107,994,909 (GRCm39)	missense	probably damaging	0.99
R5510:Or5p70	UTSW	7	107,994,332 (GRCm39)	missense	probably benign	0.01
R5703:Or5p70	UTSW	7	107,994,707 (GRCm39)	missense	probably benign	0.23
R6110:Or5p70	UTSW	7	107,995,035 (GRCm39)	missense	possibly damaging	0.93
R6782:Or5p70	UTSW	7	107,994,744 (GRCm39)	missense	probably damaging	1.00
R7062:Or5p70	UTSW	7	107,995,037 (GRCm39)	nonsense	probably null
R7783:Or5p70	UTSW	7	107,995,296 (GRCm39)	missense	probably benign	0.15
R8386:Or5p70	UTSW	7	107,994,555 (GRCm39)	small deletion	probably benign
R9347:Or5p70	UTSW	7	107,995,259 (GRCm39)	missense	probably benign	0.02
R9468:Or5p70	UTSW	7	107,994,849 (GRCm39)	missense	possibly damaging	0.56
R9554:Or5p70	UTSW	7	107,994,365 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAATCTAGCAGCAACTACGTGTCTC -3'
(R):5'- GCGATCATAAGCCATGGCAG -3'

Sequencing Primer
(F):5'- AGCAACTACGTGTCTCATGGC -3'
(R):5'- GCACTCAACTGTCGCAAGG -3'

Posted On

2017-08-16