Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Or7e173'

229673

Institutional Source

Beutler Lab

Gene Symbol

Or7e173

Ensembl Gene

ENSMUSG00000050803

Gene Name

olfactory receptor family 7 subfamily E member 173

Synonyms

Olfr866, MOR145-5, GA_x6K02T2PVTD-13768406-13767468

MMRRC Submission

040127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19938255-19939331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19938797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 146 (I146L)

Ref Sequence

ENSEMBL: ENSMUSP00000054864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062248]

AlphaFold

Q8VFI7

Predicted Effect

probably benign
Transcript: ENSMUST00000062248
AA Change: I146L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054864
Gene: ENSMUSG00000050803
AA Change: I146L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	2e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	282	8.7e-7	PFAM
Pfam:7tm_1	44	293	5.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212071

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,342,930 (GRCm39)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap3	A	C	18: 38,106,403 (GRCm39)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Aspg	G	A	12: 112,087,608 (GRCm39)	V8I	probably benign	Het
Aven	T	A	2: 112,455,541 (GRCm39)	W26R	probably damaging	Het
Car4	T	A	11: 84,854,911 (GRCm39)		probably benign	Het
Cd163	C	T	6: 124,295,815 (GRCm39)	R720C	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cdh3	A	T	8: 107,279,520 (GRCm39)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,581,250 (GRCm39)	E9G	probably damaging	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Chrnb2	T	C	3: 89,676,648 (GRCm39)		probably benign	Het
Col4a2	C	A	8: 11,466,070 (GRCm39)	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Ddias	T	C	7: 92,507,464 (GRCm39)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,535,816 (GRCm39)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,699,951 (GRCm39)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,653,071 (GRCm39)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,536,101 (GRCm39)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,380,857 (GRCm39)	G451R	possibly damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Efl1	C	T	7: 82,342,121 (GRCm39)	R510C	probably damaging	Het
Eif4g3	A	G	4: 137,912,053 (GRCm39)	E1409G	probably damaging	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fcgbp	T	C	7: 27,791,444 (GRCm39)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gbp9	T	A	5: 105,242,409 (GRCm39)	D110V	probably damaging	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,334,355 (GRCm39)	W9R	probably null	Het
Gpaa1	A	G	15: 76,217,552 (GRCm39)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,456,702 (GRCm39)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,574,578 (GRCm39)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 23,156,036 (GRCm39)	L570P	probably damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,091,302 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,306,753 (GRCm39)	D869G	probably benign	Het
Loxl2	T	C	14: 69,929,859 (GRCm39)	Y746H	probably benign	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,537,297 (GRCm39)	V1716A	probably benign	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Rims1	T	A	1: 22,474,732 (GRCm39)	R200*	probably null	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Sall3	C	T	18: 81,015,012 (GRCm39)	G972D	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,170,943 (GRCm39)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Syt16	T	A	12: 74,285,009 (GRCm39)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,494,146 (GRCm39)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,870,041 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Top2a	T	C	11: 98,895,054 (GRCm39)	I849V	probably benign	Het
Ttn	A	G	2: 76,624,792 (GRCm39)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vmn2r84	A	C	10: 130,227,100 (GRCm39)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,226 (GRCm39)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp616	A	G	11: 73,973,869 (GRCm39)		probably null	Het
Zmym1	T	C	4: 126,943,363 (GRCm39)	T244A	probably benign	Het

Other mutations in Or7e173

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or7e173	APN	9	19,938,343 (GRCm39)	missense	probably damaging	1.00
IGL01554:Or7e173	APN	9	19,938,704 (GRCm39)	missense	possibly damaging	0.55
IGL01561:Or7e173	APN	9	19,938,818 (GRCm39)	missense	probably benign	0.20
IGL01597:Or7e173	APN	9	19,938,982 (GRCm39)	missense	probably damaging	0.98
IGL02986:Or7e173	APN	9	19,939,007 (GRCm39)	missense	probably benign	0.43
IGL03101:Or7e173	APN	9	19,938,725 (GRCm39)	missense	probably benign	0.03
R0863:Or7e173	UTSW	9	19,938,509 (GRCm39)	missense	probably damaging	1.00
R1747:Or7e173	UTSW	9	19,938,613 (GRCm39)	missense	probably benign	0.01
R2121:Or7e173	UTSW	9	19,938,797 (GRCm39)	missense	probably benign
R2240:Or7e173	UTSW	9	19,938,440 (GRCm39)	missense	probably damaging	1.00
R3793:Or7e173	UTSW	9	19,938,359 (GRCm39)	missense	probably damaging	1.00
R4498:Or7e173	UTSW	9	19,939,029 (GRCm39)	missense	possibly damaging	0.50
R5084:Or7e173	UTSW	9	19,938,551 (GRCm39)	missense	probably damaging	0.99
R5420:Or7e173	UTSW	9	19,938,355 (GRCm39)	missense	probably damaging	0.98
R6314:Or7e173	UTSW	9	19,938,958 (GRCm39)	missense	probably damaging	0.98
R6357:Or7e173	UTSW	9	19,938,925 (GRCm39)	missense	probably damaging	1.00
R6588:Or7e173	UTSW	9	19,939,162 (GRCm39)	missense	probably damaging	0.97
R6886:Or7e173	UTSW	9	19,938,428 (GRCm39)	missense	probably benign	0.00
R7480:Or7e173	UTSW	9	19,939,230 (GRCm39)	start codon destroyed	probably null
R9026:Or7e173	UTSW	9	19,938,344 (GRCm39)	missense
R9168:Or7e173	UTSW	9	19,938,818 (GRCm39)	missense	probably benign	0.20
R9280:Or7e173	UTSW	9	19,938,639 (GRCm39)	missense	probably benign	0.00
R9559:Or7e173	UTSW	9	19,939,216 (GRCm39)	missense	probably benign
R9562:Or7e173	UTSW	9	19,939,045 (GRCm39)	missense	probably damaging	1.00
Z1088:Or7e173	UTSW	9	19,938,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGAGGAGGGGATTTTCAGAATG -3'
(R):5'- ATGCACAGCAGGGTCATTTC -3'

Sequencing Primer
(F):5'- GGAAAAATGCCAAGTATGACACC -3'
(R):5'- ACAGCAGGGTCATTTCCTATGCAG -3'

Posted On

2014-09-17