Mutagenetix > Incidental Mutation

Incidental Mutation 'R5240:Or5p70'

400723

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

042811-MU

Accession Numbers

Essential gene?

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

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107994329-107995321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107994909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 194 (D194V)

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: D194V

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

SMART Domains

Protein: ENSMUSP00000071440
Gene: ENSMUSG00000094104
AA Change: D194V

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: D194V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215215
AA Change: D194V

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

Meta Mutation Damage Score

0.3623

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	C	3: 59,659,449 (GRCm39)	T301P	probably damaging	Het
Cdc42bpg	T	G	19: 6,365,929 (GRCm39)	L786R	probably damaging	Het
Cfap73	C	T	5: 120,767,772 (GRCm39)	V260I	probably damaging	Het
Chchd10	A	T	10: 75,773,283 (GRCm39)	N131I	probably damaging	Het
Chn2	T	C	6: 54,197,680 (GRCm39)	V190A	probably benign	Het
Clec2l	C	T	6: 38,650,387 (GRCm39)	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,151,915 (GRCm39)	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 25,061,960 (GRCm39)	E643G	probably damaging	Het
Ddx31	A	G	2: 28,736,042 (GRCm39)	M127V	probably benign	Het
Dennd1b	A	G	1: 138,990,615 (GRCm39)	Y193C	probably damaging	Het
Dgke	T	A	11: 88,941,511 (GRCm39)	D288V	probably damaging	Het
Dst	T	A	1: 34,247,639 (GRCm39)	L1683*	probably null	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,428,018 (GRCm39)		probably benign	Het
Eif2b5	G	A	16: 20,320,148 (GRCm39)	V115I	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fgfr3	A	T	5: 33,887,382 (GRCm39)	T234S	probably damaging	Het
Gipc2	A	T	3: 151,808,299 (GRCm39)	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810 (GRCm39)		noncoding transcript	Het
Haus6	A	G	4: 86,501,415 (GRCm39)	Y819H	possibly damaging	Het
Homez	G	A	14: 55,095,531 (GRCm39)	A59V	probably damaging	Het
Iffo1	T	C	6: 125,129,423 (GRCm39)	V363A	probably benign	Het
Ifit2	T	A	19: 34,551,796 (GRCm39)	D445E	probably benign	Het
Ipo9	A	C	1: 135,317,344 (GRCm39)		probably benign	Het
Kcnv1	C	T	15: 44,976,640 (GRCm39)	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,292,730 (GRCm39)		probably benign	Het
Mplkip	T	C	13: 17,870,304 (GRCm39)	S79P	probably damaging	Het
Nae1	T	C	8: 105,249,776 (GRCm39)		probably benign	Het
Nfe2l2	A	T	2: 75,506,353 (GRCm39)	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,138,754 (GRCm39)	R297C	probably damaging	Het
Or1e1f	T	C	11: 73,855,632 (GRCm39)	L66P	probably damaging	Het
Or3a1d	T	A	11: 74,238,068 (GRCm39)	D114V	probably damaging	Het
Osbp	T	A	19: 11,955,654 (GRCm39)	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,442,979 (GRCm39)	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,824,103 (GRCm39)	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,338,912 (GRCm39)		probably benign	Het
Pigo	C	A	4: 43,020,675 (GRCm39)	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,345,865 (GRCm39)	T2721K	probably benign	Het
Pls1	A	T	9: 95,658,675 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,519,397 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,589,711 (GRCm39)	I471N	probably benign	Het
Prrc2b	C	T	2: 32,096,408 (GRCm39)	T593I	probably benign	Het
Ptch2	C	A	4: 116,963,335 (GRCm39)		probably benign	Het
Pth	A	T	7: 112,985,051 (GRCm39)	D107E	probably damaging	Het
Pycr2	A	C	1: 180,735,188 (GRCm39)	Q315P	probably benign	Het
Rbpj	A	T	5: 53,806,782 (GRCm39)	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,544,967 (GRCm39)	R560L	probably damaging	Het
Sdr42e1	T	C	8: 118,390,021 (GRCm39)	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,388,362 (GRCm39)	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,316,875 (GRCm39)		probably null	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Sugp2	G	T	8: 70,695,925 (GRCm39)	L299F	probably benign	Het
Tbrg4	A	T	11: 6,567,516 (GRCm39)		probably null	Het
Tkt	G	T	14: 30,287,635 (GRCm39)	G210C	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,771,854 (GRCm39)	I98T	probably benign	Het
Unc5b	A	G	10: 60,610,419 (GRCm39)	I466T	probably damaging	Het
Unc79	T	A	12: 103,037,010 (GRCm39)	F599L	probably damaging	Het
Vav1	G	A	17: 57,604,122 (GRCm39)	E151K	probably damaging	Het
Vcan	T	G	13: 89,840,651 (GRCm39)	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,314,358 (GRCm39)	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,186,642 (GRCm39)	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,220,527 (GRCm39)		probably benign	Het
Znhit1	T	A	5: 137,011,235 (GRCm39)		probably null	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
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'- CCAAAATGTCCAGAGAAGCCTG -3'
(R):5'- CAACACCTTGTTCTGGTCAGTG -3'

Sequencing Primer
(F):5'- TCCAGAGAAGCCTGTATCCAGTTG -3'
(R):5'- CTGGACTTGGGCATCACATAAATG -3'

Posted On

2016-07-06