Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Or5p70'

548338

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

045158-MU

Accession Numbers

Essential gene?

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

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107994329-107995321 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 107995037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 237 (R237*)

Ref Sequence

ENSEMBL: ENSMUSP00000150689 (fasta)

Gene Model

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

AlphaFold

Q8VF12

Predicted Effect

probably null
Transcript: ENSMUST00000210990
AA Change: R237*

Predicted Effect

probably null
Transcript: ENSMUST00000215215
AA Change: R237*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,544,872 (GRCm39)	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,159,682 (GRCm39)	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,366,091 (GRCm39)	H536R	probably benign	Het
Adgrb3	T	C	1: 25,865,166 (GRCm39)	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,469,473 (GRCm39)	M235L	probably benign	Het
Arhgap44	T	C	11: 64,902,758 (GRCm39)	T570A	probably benign	Het
Astn1	A	G	1: 158,516,081 (GRCm39)		probably null	Het
Camsap3	A	G	8: 3,657,834 (GRCm39)		probably benign	Het
Ccdc73	C	T	2: 104,782,223 (GRCm39)	A193V	probably damaging	Het
Ccl20	G	A	1: 83,095,535 (GRCm39)	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,711,268 (GRCm39)	E16G	probably damaging	Het
Celsr2	T	A	3: 108,309,826 (GRCm39)	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,456,785 (GRCm39)	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,676 (GRCm39)	A106V	probably benign	Het
Ctdspl	G	A	9: 118,866,538 (GRCm39)	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,151,659 (GRCm39)	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,983,990 (GRCm39)		probably null	Het
Dnajc16	A	G	4: 141,494,001 (GRCm39)	F549L	probably damaging	Het
Dnm3	T	A	1: 161,962,060 (GRCm39)	K50*	probably null	Het
Eci1	C	T	17: 24,645,714 (GRCm39)		probably benign	Het
Eif2b4	C	T	5: 31,350,175 (GRCm39)	C49Y	probably benign	Het
Emc3	A	T	6: 113,499,757 (GRCm39)	I56N	probably damaging	Het
Enthd1	A	G	15: 80,336,745 (GRCm39)	L563P	probably damaging	Het
Ercc4	T	A	16: 12,950,811 (GRCm39)	I635K	probably damaging	Het
Espl1	A	C	15: 102,207,331 (GRCm39)	N265T	probably benign	Het
Fads2	T	C	19: 10,042,962 (GRCm39)		probably null	Het
Fam186a	G	A	15: 99,831,521 (GRCm39)		probably benign	Het
Fastkd1	A	T	2: 69,534,666 (GRCm39)	I368K	possibly damaging	Het
Fat1	G	A	8: 45,403,253 (GRCm39)	M1I	probably null	Het
Foxj1	T	C	11: 116,222,819 (GRCm39)	E328G	probably benign	Het
Gfod2	T	C	8: 106,449,508 (GRCm39)		probably benign	Het
Gm6525	C	T	3: 84,082,198 (GRCm39)	R40C	probably benign	Het
Gna12	G	A	5: 140,771,240 (GRCm39)	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,104,712 (GRCm39)	M11V	probably benign	Het
Kcnj14	T	C	7: 45,467,314 (GRCm39)	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,323,737 (GRCm39)	S496T	probably benign	Het
Ltn1	T	C	16: 87,224,491 (GRCm39)	T78A	probably damaging	Het
Matr3	T	A	18: 35,712,072 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,298,125 (GRCm39)	M142T	probably benign	Het
Mroh7	A	G	4: 106,541,177 (GRCm39)	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,361,650 (GRCm39)	L12F	probably benign	Het
Myo3b	G	A	2: 70,047,501 (GRCm39)	V308I	probably benign	Het
Nfasc	A	G	1: 132,529,707 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,167,807 (GRCm39)	M995L	probably benign	Het
Nvl	A	G	1: 180,939,899 (GRCm39)	I617T	probably benign	Het
Oas1h	C	A	5: 120,999,528 (GRCm39)		probably benign	Het
Oasl2	T	A	5: 115,049,152 (GRCm39)	Y197*	probably null	Het
Or4k1	A	G	14: 50,377,907 (GRCm39)	L63P	probably damaging	Het
Or52ab7	T	C	7: 102,978,293 (GRCm39)	V200A	probably benign	Het
Or5an1c	T	C	19: 12,218,089 (GRCm39)	N312S	probably benign	Het
Or5l13	T	C	2: 87,780,568 (GRCm39)	E3G	probably benign	Het
Or8g35	A	T	9: 39,381,353 (GRCm39)	I223N	probably benign	Het
Orc6	T	C	8: 86,029,537 (GRCm39)	V27A	probably damaging	Het
Parp4	A	T	14: 56,852,216 (GRCm39)	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,958,130 (GRCm39)	S826R	probably damaging	Het
Phldb1	T	C	9: 44,607,432 (GRCm39)	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,106,210 (GRCm39)	S21G	probably benign	Het
Ppp1r18	C	A	17: 36,179,103 (GRCm39)	T326K	probably damaging	Het
Psg26	A	G	7: 18,216,521 (GRCm39)	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,054,220 (GRCm39)	D265E	probably benign	Het
Rasgrp4	T	C	7: 28,849,619 (GRCm39)	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,703,111 (GRCm39)	V621L	probably benign	Het
Sart3	T	C	5: 113,883,663 (GRCm39)	K783R	possibly damaging	Het
Slc23a2	T	A	2: 131,933,189 (GRCm39)	I90F	probably damaging	Het
Slc5a2	A	T	7: 127,869,212 (GRCm39)	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,600,029 (GRCm39)	G128A	probably damaging	Het
Smcr8	A	T	11: 60,671,180 (GRCm39)	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,458,835 (GRCm39)	D519E	probably damaging	Het
Smurf1	A	T	5: 144,830,356 (GRCm39)		probably null	Het
Spata18	T	A	5: 73,816,636 (GRCm39)	N125K	probably benign	Het
Spice1	T	A	16: 44,178,259 (GRCm39)	M94K	probably damaging	Het
Stard4	T	C	18: 33,338,587 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,140,442 (GRCm39)	D49G	probably benign	Het
Tbce	T	C	13: 14,194,380 (GRCm39)	D93G	possibly damaging	Het
Tbx21	T	A	11: 96,989,719 (GRCm39)	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,044,731 (GRCm39)		probably benign	Het
Tmem209	C	T	6: 30,502,016 (GRCm39)	R62H	probably damaging	Het
Tmem237	A	T	1: 59,158,771 (GRCm39)		probably null	Het
Tmprss9	T	C	10: 80,730,883 (GRCm39)	I803T	probably benign	Het
Trip4	C	T	9: 65,792,292 (GRCm39)	A7T	probably benign	Het
Unc13a	T	C	8: 72,115,881 (GRCm39)	D107G	probably benign	Het
Uso1	C	A	5: 92,340,599 (GRCm39)	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,196,949 (GRCm39)	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,419,040 (GRCm39)	C367R	probably damaging	Het
Znrf3	T	A	11: 5,231,550 (GRCm39)	E558D	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
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
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'- ACAGGGTCTCCTTAATGCTTCC -3'
(R):5'- TTCCTCAGGCTGTAGATGAGGG -3'

Sequencing Primer
(F):5'- CCTTGATCTTCTGTGGACCAAATAG -3'
(R):5'- GGGTTCAACATGGGAATCACAACC -3'

Posted On

2019-05-13