Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Or7e170'

439348

Institutional Source

Beutler Lab

Gene Symbol

Or7e170

Ensembl Gene

ENSMUSG00000063842

Gene Name

olfactory receptor family 7 subfamily E member 170

Synonyms

Olfr862, MOR146-1, GA_x6K02T2PVTD-13624132-13623212

MMRRC Submission

043271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19794679-19795969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19795272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 110 (M110L)

Ref Sequence

ENSEMBL: ENSMUSP00000078603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073765] [ENSMUST00000079660]

AlphaFold

Q8VFJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000073765
AA Change: M110L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073437
Gene: ENSMUSG00000063842
AA Change: M110L

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:7tm_4	31	306	3.1e-52	PFAM
Pfam:7TM_GPCR_Srsx	35	282	1.3e-7	PFAM
Pfam:7tm_1	41	290	5.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079660
AA Change: M110L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: M110L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	303	8.3e-8	PFAM
Pfam:7tm_1	41	290	4.5e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,516,661 (GRCm39)	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,804,740 (GRCm39)	F851S	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,347,086 (GRCm39)	N1027I	probably benign	Het
Cacng4	A	T	11: 107,625,610 (GRCm39)	V327E	probably damaging	Het
Casp1	T	C	9: 5,303,143 (GRCm39)	V199A	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Ctnna1	A	G	18: 35,382,795 (GRCm39)	D647G	probably benign	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Exoc6	T	A	19: 37,566,977 (GRCm39)	V258D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	A	1: 174,437,377 (GRCm39)	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,283,326 (GRCm39)	T60A	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,676,869 (GRCm39)	Y428H	probably damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,771,227 (GRCm39)	V933A	probably damaging	Het
Nepn	A	T	10: 52,277,233 (GRCm39)	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,245 (GRCm39)	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,238,033 (GRCm39)	T199A	probably benign	Het
Obscn	T	G	11: 59,013,674 (GRCm39)	K1150Q	probably benign	Het
Or12j5	A	C	7: 140,084,318 (GRCm39)	V18G	probably benign	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or7a38	A	G	10: 78,752,933 (GRCm39)	I86M	possibly damaging	Het
Otop1	G	A	5: 38,451,848 (GRCm39)	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,078,239 (GRCm39)	D494Y	probably damaging	Het
Pop5	G	A	5: 115,378,260 (GRCm39)	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,800,223 (GRCm39)	D518G	probably benign	Het
Preb	G	T	5: 31,117,307 (GRCm39)		probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rag1	G	A	2: 101,474,137 (GRCm39)	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,608,746 (GRCm39)	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,631,312 (GRCm39)	N649D	probably benign	Het
Smarcal1	A	G	1: 72,625,372 (GRCm39)	D173G	probably benign	Het
Smg7	A	G	1: 152,718,985 (GRCm39)	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,005,246 (GRCm39)	S796T	possibly damaging	Het
Tex14	A	G	11: 87,413,404 (GRCm39)	T1052A	probably benign	Het
Tspan1	A	G	4: 116,021,277 (GRCm39)	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,637,305 (GRCm39)	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Ubr2	G	T	17: 47,245,126 (GRCm39)	C1633*	probably null	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,805,318 (GRCm39)	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	Het

Other mutations in Or7e170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Or7e170	APN	9	19,794,844 (GRCm39)	nonsense	probably null
IGL01636:Or7e170	APN	9	19,795,484 (GRCm39)	missense	probably benign	0.14
IGL01765:Or7e170	APN	9	19,795,247 (GRCm39)	missense	possibly damaging	0.71
IGL01967:Or7e170	APN	9	19,794,885 (GRCm39)	missense	probably damaging	0.97
IGL03145:Or7e170	APN	9	19,794,735 (GRCm39)	missense	possibly damaging	0.93
IGL03222:Or7e170	APN	9	19,795,495 (GRCm39)	nonsense	probably null
R0117:Or7e170	UTSW	9	19,795,595 (GRCm39)	missense	probably damaging	0.96
R0662:Or7e170	UTSW	9	19,795,248 (GRCm39)	missense	probably benign	0.32
R2399:Or7e170	UTSW	9	19,795,220 (GRCm39)	missense	probably damaging	0.98
R4224:Or7e170	UTSW	9	19,794,896 (GRCm39)	missense	probably benign	0.44
R4572:Or7e170	UTSW	9	19,795,275 (GRCm39)	missense	probably benign
R5741:Or7e170	UTSW	9	19,794,857 (GRCm39)	missense	possibly damaging	0.92
R5759:Or7e170	UTSW	9	19,795,484 (GRCm39)	missense	probably benign	0.14
R6237:Or7e170	UTSW	9	19,795,365 (GRCm39)	missense	probably damaging	1.00
R6434:Or7e170	UTSW	9	19,795,141 (GRCm39)	nonsense	probably null
R7075:Or7e170	UTSW	9	19,795,359 (GRCm39)	missense	probably benign	0.16
R7534:Or7e170	UTSW	9	19,795,472 (GRCm39)	missense	probably benign	0.16
R7735:Or7e170	UTSW	9	19,795,410 (GRCm39)	missense	probably damaging	0.99
R8415:Or7e170	UTSW	9	19,795,409 (GRCm39)	missense	possibly damaging	0.95
R9246:Or7e170	UTSW	9	19,795,686 (GRCm39)	start gained	probably benign
R9438:Or7e170	UTSW	9	19,795,083 (GRCm39)	missense	probably benign
R9795:Or7e170	UTSW	9	19,795,347 (GRCm39)	missense	probably benign
Z1177:Or7e170	UTSW	9	19,794,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGGATTTCCATATTAGTGCAG -3'
(R):5'- TGCTCATCATCTTGGCCATCAG -3'

Sequencing Primer
(F):5'- TTAGTGCAGAATTTTAGTTGTGAAAC -3'
(R):5'- ATCTTGGCCATCAGCTCTG -3'

Posted On

2016-10-26