Mutagenetix > Incidental Mutation

Incidental Mutation 'R7075:Or7e170'

549164

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

045170-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19794679-19795969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19795359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 81 (M81L)

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: M81L

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

SMART Domains

Protein: ENSMUSP00000073437
Gene: ENSMUSG00000063842
AA Change: M81L

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: M81L

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

SMART Domains

Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: M81L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (60/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp1	A	T	12: 85,325,782 (GRCm39)	H72Q	unknown	Het
Afmid	T	A	11: 117,726,531 (GRCm39)	D218E	probably benign	Het
Ankhd1	T	C	18: 36,693,042 (GRCm39)	V1A		Het
Atf7ip	T	C	6: 136,573,513 (GRCm39)		probably null	Het
BC024139	C	T	15: 76,008,599 (GRCm39)	V326I	probably benign	Het
Bfsp1	T	A	2: 143,690,885 (GRCm39)	Q159L	probably damaging	Het
Cct2	A	T	10: 116,897,370 (GRCm39)	W125R	unknown	Het
Cnksr3	G	T	10: 7,102,931 (GRCm39)	T147K	probably benign	Het
Colq	C	G	14: 31,274,866 (GRCm39)	G101R	probably damaging	Het
Dlg5	G	T	14: 24,227,865 (GRCm39)	T352K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Ebna1bp2	T	C	4: 118,479,299 (GRCm39)	V119A	probably benign	Het
Eif2ak4	C	T	2: 118,251,291 (GRCm39)	Q318*	probably null	Het
Eif2b1	G	A	5: 124,709,314 (GRCm39)	T286M	probably damaging	Het
Fam53b	G	T	7: 132,361,352 (GRCm39)	D225E	probably damaging	Het
Fh1	A	G	1: 175,435,421 (GRCm39)	I354T	probably benign	Het
Fnbp1	T	C	2: 30,948,926 (GRCm39)	H206R	probably benign	Het
Gabrg3	A	T	7: 56,973,444 (GRCm39)	D74E	probably damaging	Het
Galnt18	A	T	7: 111,155,595 (GRCm39)	V246E	possibly damaging	Het
Glt6d1	T	C	2: 25,685,292 (GRCm39)	R44G	probably benign	Het
Gm17087	T	C	17: 8,785,635 (GRCm39)	M23V	probably benign	Het
Gpr160	A	T	3: 30,950,926 (GRCm39)	I333L	possibly damaging	Het
Hars1	T	C	18: 36,905,408 (GRCm39)	N142S	possibly damaging	Het
Hmgcll1	T	C	9: 75,963,834 (GRCm39)	V97A	possibly damaging	Het
Itih4	T	G	14: 30,614,560 (GRCm39)	V474G	probably damaging	Het
Itprid2	T	A	2: 79,466,004 (GRCm39)	S41T	probably damaging	Het
Keap1	C	T	9: 21,142,552 (GRCm39)	V568I	probably benign	Het
Kifc5b	A	G	17: 27,144,872 (GRCm39)	M633V	probably benign	Het
Lsm4	A	G	8: 71,130,435 (GRCm39)	E18G	probably damaging	Het
Meox1	T	A	11: 101,784,569 (GRCm39)	Q88L	probably damaging	Het
Mettl25	T	C	10: 105,665,785 (GRCm39)	N147S	possibly damaging	Het
Mphosph9	A	C	5: 124,458,922 (GRCm39)	W83G	probably damaging	Het
Or1j15	T	C	2: 36,459,192 (GRCm39)	I194T	probably benign	Het
Or5ak22	T	C	2: 85,230,544 (GRCm39)	D111G	probably damaging	Het
Or8b4	T	C	9: 37,830,370 (GRCm39)	V139A	probably benign	Het
Or8h8	T	G	2: 86,752,990 (GRCm39)	K295N	possibly damaging	Het
Or9g4	T	A	2: 85,505,168 (GRCm39)	Y109F		Het
Otogl	G	T	10: 107,614,790 (GRCm39)	T1954K	probably benign	Het
Padi2	T	C	4: 140,660,528 (GRCm39)	V336A	probably damaging	Het
Phf21a	C	T	2: 92,190,724 (GRCm39)	Q675*	probably null	Het
Ppip5k1	T	C	2: 121,152,231 (GRCm39)	E1092G	probably damaging	Het
Psg21	T	C	7: 18,388,786 (GRCm39)	N102S	probably damaging	Het
Ralgapa1	C	A	12: 55,867,508 (GRCm39)	Q15H	possibly damaging	Het
Rbm26	A	T	14: 105,398,043 (GRCm39)	D26E	unknown	Het
Rbp4	T	C	19: 38,112,509 (GRCm39)	Y152C	probably damaging	Het
Recql4	A	G	15: 76,590,624 (GRCm39)	V646A	possibly damaging	Het
Rnf220	A	T	4: 117,143,079 (GRCm39)	M63K	probably benign	Het
Selenok	T	C	14: 29,692,024 (GRCm39)	S21P	probably damaging	Het
Senp1	A	G	15: 97,956,207 (GRCm39)	V404A	probably benign	Het
Sh3yl1	A	G	12: 30,990,165 (GRCm39)		probably null	Het
Snx32	A	G	19: 5,547,018 (GRCm39)	L275P	probably damaging	Het
Stat5a	T	C	11: 100,770,519 (GRCm39)	V519A	possibly damaging	Het
Tbc1d10b	A	T	7: 126,802,410 (GRCm39)	V388E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tmem63a	T	A	1: 180,788,714 (GRCm39)	F350L	probably damaging	Het
Trio	A	T	15: 27,898,086 (GRCm39)	I401K	unknown	Het
Ttn	T	C	2: 76,547,173 (GRCm39)	E32291G	probably damaging	Het
Tubgcp5	G	T	7: 55,479,155 (GRCm39)	V1002L	probably benign	Het
Vav3	C	T	3: 109,433,240 (GRCm39)	T410I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,597 (GRCm39)	F23I	probably benign	Het
Vmn2r84	T	A	10: 130,226,941 (GRCm39)	Q299L	probably damaging	Het
Vmn2r85	T	A	10: 130,258,557 (GRCm39)	E499D	probably benign	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
R5607:Or7e170	UTSW	9	19,795,272 (GRCm39)	missense	probably benign	0.16
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
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'- GGACCAAACGTCTACACAGG -3'
(R):5'- CTGTTACTTGGTCTCTCAGAGGAC -3'

Sequencing Primer
(F):5'- AAACGTCTACACAGGCCGGG -3'
(R):5'- TCTCTCAGAGGACCCTGAACTG -3'

Posted On

2019-05-15