Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Or5p70'

160236

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

039460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107994329-107995321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107994708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 127 (V127E)

Ref Sequence

ENSEMBL: ENSMUSP00000150689 (fasta)

Gene Model

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

AlphaFold

Q8VF12

Predicted Effect

probably damaging
Transcript: ENSMUST00000071505
AA Change: V127E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071440
Gene: ENSMUSG00000094104
AA Change: V127E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	3.6e-51	PFAM
Pfam:7tm_1	44	293	2.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210990
AA Change: V127E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215215
AA Change: V127E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6157

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	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
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
R6102:Or5p70	UTSW	7	107,994,491 (GRCm39)	missense	probably damaging	0.99
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'- TGAGAGACATCCTCTTCACCATCATCC -3'
(R):5'- TGTTGTCAGTGTGATAAAGCCAGCAG -3'

Sequencing Primer
(F):5'- CTATCTGGTGACCGTGTCCG -3'
(R):5'- ATCAGAACAGGAGAGTTCCAC -3'

Posted On

2014-03-14