Mutagenetix > Incidental Mutation

Incidental Mutation 'R2030:Or7e169'

221152

Institutional Source

Beutler Lab

Gene Symbol

Or7e169

Ensembl Gene

ENSMUSG00000066905

Gene Name

olfactory receptor family 7 subfamily E member 169

Synonyms

GA_x6K02T2PVTD-13586614-13585661, Olfr860, MOR146-2

MMRRC Submission

040037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R2030 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19756919-19761043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19757709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000148568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086482] [ENSMUST00000211924] [ENSMUST00000212353]

AlphaFold

Q8VFF7

Predicted Effect

probably benign
Transcript: ENSMUST00000086482
AA Change: S69P

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130735
Gene: ENSMUSG00000066905
AA Change: S69P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.5e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.1e-8	PFAM
Pfam:7tm_1	41	290	9.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211924
AA Change: S69P

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000212353
AA Change: S69P

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212525
AA Change: S69P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212838

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

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
Adtrp	C	T	13: 41,981,735 (GRCm39)	V13I	probably damaging	Het
Ak2	A	G	4: 128,902,013 (GRCm39)	K229E	probably benign	Het
Atp13a4	A	T	16: 29,241,502 (GRCm39)	V741D	probably damaging	Het
Bdp1	A	T	13: 100,197,697 (GRCm39)	M896K	probably benign	Het
Ccser1	C	T	6: 61,288,547 (GRCm39)	R237C	probably benign	Het
Cdk7	A	G	13: 100,859,182 (GRCm39)		probably benign	Het
CK137956	A	G	4: 127,845,180 (GRCm39)	S188P	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbndd2	A	G	2: 164,330,563 (GRCm39)	D72G	probably damaging	Het
Disp3	A	T	4: 148,344,423 (GRCm39)	I493N	probably damaging	Het
Dnaaf10	A	T	11: 17,179,832 (GRCm39)	T278S	probably benign	Het
Epx	T	C	11: 87,755,650 (GRCm39)	D678G	probably damaging	Het
Fbxw5	G	T	2: 25,394,810 (GRCm39)	V235L	probably damaging	Het
Fmo4	T	A	1: 162,621,741 (GRCm39)	D490V	probably damaging	Het
Fuca2	A	G	10: 13,382,518 (GRCm39)	Y268C	probably damaging	Het
Gm4787	C	T	12: 81,425,544 (GRCm39)	V205I	probably damaging	Het
Gpat3	G	A	5: 101,045,687 (GRCm39)	R437K	probably benign	Het
Herc2	A	G	7: 55,834,121 (GRCm39)	S3109G	probably damaging	Het
Hr	G	A	14: 70,808,888 (GRCm39)	R1117H	probably damaging	Het
Htra4	T	A	8: 25,523,593 (GRCm39)	D324V	probably damaging	Het
Kcnd3	A	G	3: 105,366,853 (GRCm39)	Y241C	probably damaging	Het
Kcp	G	A	6: 29,489,071 (GRCm39)	L1072F	probably damaging	Het
Lrrc52	T	C	1: 167,294,028 (GRCm39)	N86D	probably benign	Het
Mindy4	A	G	6: 55,188,247 (GRCm39)	T26A	probably damaging	Het
Mre11a	A	T	9: 14,707,101 (GRCm39)	N117Y	probably damaging	Het
Mrgprb1	A	T	7: 48,097,076 (GRCm39)	S279T	possibly damaging	Het
Myh13	T	G	11: 67,241,064 (GRCm39)	S814A	probably benign	Het
Ncapd2	A	G	6: 125,153,678 (GRCm39)	V679A	possibly damaging	Het
Nipbl	A	T	15: 8,379,771 (GRCm39)	V1007D	probably damaging	Het
Nlrp12	T	A	7: 3,277,049 (GRCm39)	H960L	probably damaging	Het
Or3a1c	T	A	11: 74,046,769 (GRCm39)	M263K	possibly damaging	Het
Or4a72	C	T	2: 89,405,558 (GRCm39)	V171I	probably benign	Het
Pklr	A	G	3: 89,050,545 (GRCm39)	Y402C	probably damaging	Het
Prdm2	T	C	4: 142,859,334 (GRCm39)	T1319A	possibly damaging	Het
Rif1	T	A	2: 51,982,358 (GRCm39)	V541E	probably damaging	Het
Ryk	T	A	9: 102,758,855 (GRCm39)	I248N	possibly damaging	Het
Shisa2	A	T	14: 59,867,134 (GRCm39)	I129F	probably damaging	Het
Snap25	T	G	2: 136,611,973 (GRCm39)		probably benign	Het
Snx31	G	A	15: 36,525,848 (GRCm39)	P284S	probably benign	Het
Spata31g1	C	T	4: 42,974,131 (GRCm39)	Q1155*	probably null	Het
Tas2r140	A	G	6: 40,469,154 (GRCm39)	K328R	possibly damaging	Het
Tas2r140	T	C	6: 133,032,213 (GRCm39)	T182A	probably benign	Het
Thumpd2	G	A	17: 81,372,387 (GRCm39)	R35C	probably damaging	Het
Tnxb	A	T	17: 34,937,443 (GRCm39)	N3811Y	probably damaging	Het
Tpte	A	C	8: 22,835,901 (GRCm39)	N428T	probably damaging	Het
Trpm6	A	G	19: 18,831,629 (GRCm39)	D1498G	probably benign	Het
Tsc2	C	T	17: 24,842,444 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,703,277 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,045,017 (GRCm39)	I251V	probably benign	Het
Zc3h6	T	C	2: 128,848,006 (GRCm39)	Y278H	probably damaging	Het
Zfat	A	G	15: 67,990,783 (GRCm39)		probably null	Het
Zfp442	A	T	2: 150,250,042 (GRCm39)	V620E	possibly damaging	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	probably damaging	Het

Other mutations in Or7e169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Or7e169	APN	9	19,757,555 (GRCm39)	missense	probably damaging	1.00
IGL02216:Or7e169	APN	9	19,757,861 (GRCm39)	missense	probably damaging	0.99
IGL02269:Or7e169	APN	9	19,757,024 (GRCm39)	missense	possibly damaging	0.85
IGL02964:Or7e169	APN	9	19,757,550 (GRCm39)	nonsense	probably null
R0042:Or7e169	UTSW	9	19,757,075 (GRCm39)	missense	probably benign
R1505:Or7e169	UTSW	9	19,757,084 (GRCm39)	missense	probably benign	0.39
R1941:Or7e169	UTSW	9	19,757,246 (GRCm39)	missense	probably damaging	0.99
R3150:Or7e169	UTSW	9	19,757,510 (GRCm39)	missense	possibly damaging	0.80
R4597:Or7e169	UTSW	9	19,756,987 (GRCm39)	missense	probably benign	0.01
R5004:Or7e169	UTSW	9	19,757,398 (GRCm39)	missense	probably benign	0.00
R5006:Or7e169	UTSW	9	19,757,567 (GRCm39)	missense	probably benign	0.33
R5350:Or7e169	UTSW	9	19,757,912 (GRCm39)	start codon destroyed	probably null	0.97
R6163:Or7e169	UTSW	9	19,757,024 (GRCm39)	missense	probably benign	0.45
R6368:Or7e169	UTSW	9	19,757,705 (GRCm39)	missense	probably damaging	1.00
R7206:Or7e169	UTSW	9	19,757,856 (GRCm39)	missense	probably damaging	0.99
R7315:Or7e169	UTSW	9	19,757,131 (GRCm39)	missense	probably damaging	0.99
R8195:Or7e169	UTSW	9	19,757,780 (GRCm39)	missense	probably damaging	0.99
R8537:Or7e169	UTSW	9	19,757,848 (GRCm39)	missense	probably damaging	0.96
R8546:Or7e169	UTSW	9	19,757,685 (GRCm39)	missense	probably damaging	0.99
R8803:Or7e169	UTSW	9	19,757,462 (GRCm39)	missense	possibly damaging	0.95
R9049:Or7e169	UTSW	9	19,757,045 (GRCm39)	missense	probably damaging	1.00
R9164:Or7e169	UTSW	9	19,757,504 (GRCm39)	missense	possibly damaging	0.73
R9254:Or7e169	UTSW	9	19,757,212 (GRCm39)	missense	possibly damaging	0.83
R9379:Or7e169	UTSW	9	19,757,212 (GRCm39)	missense	possibly damaging	0.83
R9513:Or7e169	UTSW	9	19,757,816 (GRCm39)	missense	possibly damaging	0.73
R9515:Or7e169	UTSW	9	19,757,816 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGCACCTGTGAATCAATGAGAC -3'
(R):5'- TCTCCTTGGACTCTCAGAGG -3'

Sequencing Primer
(F):5'- CACCTGTGAATCAATGAGACTGATAC -3'
(R):5'- TGGACTCTCAGAGGACCCTGAAC -3'

Posted On

2014-08-25