Mutagenetix > Incidental Mutation

Incidental Mutation 'R1456:Or7e177'

161796

Institutional Source

Beutler Lab

Gene Symbol

Or7e177

Ensembl Gene

ENSMUSG00000049028

Gene Name

olfactory receptor family 7 subfamily E member 177

Synonyms

Olfr873, GA_x6K02T2PVTD-14040245-14041204, MOR145-2

MMRRC Submission

039511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20211507-20212466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20212134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 214 (Y214H)

Ref Sequence

ENSEMBL: ENSMUSP00000075135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053919] [ENSMUST00000075717] [ENSMUST00000215540]

AlphaFold

E9PX82

Predicted Effect

probably benign
Transcript: ENSMUST00000053919
AA Change: Y210H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054778
Gene: ENSMUSG00000049028
AA Change: Y210H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	317	1.7e-52	PFAM
Pfam:7TM_GPCR_Srsx	45	315	1.6e-8	PFAM
Pfam:7tm_1	51	300	3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075717
AA Change: Y214H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075135
Gene: ENSMUSG00000049028
AA Change: Y214H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	45	321	6.2e-43	PFAM
Pfam:7TM_GPCR_Srsx	49	309	3e-8	PFAM
Pfam:7tm_1	55	304	1.5e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213445

Predicted Effect

probably benign
Transcript: ENSMUST00000215540
AA Change: Y213H

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216567

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,485,731 (GRCm39)		probably null	Het
4932414N04Rik	A	T	2: 68,546,558 (GRCm39)	E80V	possibly damaging	Het
Alkbh3	A	G	2: 93,831,764 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,704,277 (GRCm39)	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,792,436 (GRCm39)	I629T	probably benign	Het
Arhgef28	C	T	13: 98,211,510 (GRCm39)	E158K	probably benign	Het
Asxl2	C	T	12: 3,551,872 (GRCm39)	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,916,285 (GRCm39)	I427V	probably benign	Het
Camk4	A	G	18: 33,262,896 (GRCm39)		probably benign	Het
Ccdc178	A	T	18: 22,283,481 (GRCm39)	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,644,446 (GRCm39)		probably benign	Het
Ccz1	A	G	5: 143,947,836 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,322,899 (GRCm39)	N335S	possibly damaging	Het
Cemip	T	A	7: 83,647,718 (GRCm39)	S121C	possibly damaging	Het
Cers1	A	G	8: 70,783,838 (GRCm39)	E262G	probably damaging	Het
Clec11a	G	T	7: 43,955,874 (GRCm39)	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,509,419 (GRCm39)	I797T	probably damaging	Het
Col4a1	A	C	8: 11,292,829 (GRCm39)		probably benign	Het
Colgalt2	G	A	1: 152,360,655 (GRCm39)	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,038,428 (GRCm39)	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,181,910 (GRCm39)		noncoding transcript	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Dhx9	A	T	1: 153,341,441 (GRCm39)	D601E	probably benign	Het
Dnah3	A	G	7: 119,646,853 (GRCm39)	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,848,569 (GRCm39)		probably benign	Het
Egfr	A	G	11: 16,813,065 (GRCm39)	S182G	probably benign	Het
Fads1	A	G	19: 10,163,116 (GRCm39)	N131S	probably benign	Het
Fam243	T	A	16: 92,117,553 (GRCm39)	Y245F	probably damaging	Het
Fancm	C	T	12: 65,165,125 (GRCm39)	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,209,339 (GRCm39)	E168*	probably null	Het
Galnt2l	T	C	8: 123,568,687 (GRCm39)		probably benign	Het
Gm9772	A	T	17: 22,226,099 (GRCm39)	C62S	probably damaging	Het
H60c	C	T	10: 3,210,307 (GRCm39)	A81T	possibly damaging	Het
Hira	T	G	16: 18,744,413 (GRCm39)	S377A	probably benign	Het
Iffo1	T	C	6: 125,122,877 (GRCm39)	S220P	possibly damaging	Het
Itih4	A	G	14: 30,614,610 (GRCm39)	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,559,777 (GRCm39)	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,692,835 (GRCm39)	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 43,754,923 (GRCm39)	V73I	probably benign	Het
Krt42	G	A	11: 100,160,435 (GRCm39)	A88V	probably benign	Het
Krt42	C	T	11: 100,160,436 (GRCm39)	A88T	probably benign	Het
Limk1	G	T	5: 134,686,364 (GRCm39)	D580E	probably benign	Het
Lipk	C	T	19: 34,024,185 (GRCm39)	P323S	probably damaging	Het
Lipo5	T	A	19: 33,443,273 (GRCm39)		probably benign	Het
Llgl2	A	G	11: 115,736,325 (GRCm39)	D166G	probably benign	Het
Mapk8ip3	A	T	17: 25,125,923 (GRCm39)	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,803,626 (GRCm39)	R32W	probably damaging	Het
Med23	T	A	10: 24,779,550 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,777 (GRCm39)	M45K	probably damaging	Het
Mroh7	G	A	4: 106,552,338 (GRCm39)		probably benign	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Ms4a10	T	A	19: 10,942,097 (GRCm39)	T175S	possibly damaging	Het
Muc17	T	C	5: 137,166,799 (GRCm39)	H330R	probably benign	Het
Myo15a	A	T	11: 60,399,028 (GRCm39)	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,846,277 (GRCm39)	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,464,300 (GRCm39)	G1669*	probably null	Het
Or5p56	A	G	7: 107,589,605 (GRCm39)	E11G	probably benign	Het
Or6c208	A	T	10: 129,223,652 (GRCm39)	D50V	probably damaging	Het
Pafah2	T	A	4: 134,131,468 (GRCm39)	I52N	probably damaging	Het
Pcsk6	A	T	7: 65,693,283 (GRCm39)	I693F	possibly damaging	Het
Pde4c	G	T	8: 71,199,262 (GRCm39)	R228L	probably benign	Het
Pdzd8	T	C	19: 59,288,904 (GRCm39)	N832S	probably benign	Het
Plbd1	T	A	6: 136,590,814 (GRCm39)	M451L	probably benign	Het
Pramel14	G	T	4: 143,719,851 (GRCm39)	D171E	probably benign	Het
Prom1	T	C	5: 44,194,965 (GRCm39)	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,216,310 (GRCm39)	S813P	probably damaging	Het
Scn10a	T	C	9: 119,520,544 (GRCm39)	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,365,967 (GRCm39)	T353A	probably damaging	Het
Shq1	A	T	6: 100,646,659 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,049,223 (GRCm39)	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,314,114 (GRCm39)	E9K	probably null	Het
Specc1l	T	C	10: 75,082,118 (GRCm39)	F505L	probably damaging	Het
Sptan1	G	T	2: 29,870,215 (GRCm39)		probably null	Het
St6gal2	A	G	17: 55,797,932 (GRCm39)		probably benign	Het
Taok2	T	C	7: 126,479,313 (GRCm39)	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,721,229 (GRCm39)	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,744,542 (GRCm39)	N361K	probably damaging	Het
Tph1	A	T	7: 46,296,907 (GRCm39)	Y429*	probably null	Het
Tprkb	A	T	6: 85,901,403 (GRCm39)	R14W	probably damaging	Het
Trio	A	T	15: 27,753,890 (GRCm39)		probably benign	Het
Ttc23	T	C	7: 67,316,902 (GRCm39)		probably benign	Het
Vmn1r211	T	C	13: 23,036,415 (GRCm39)	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,614,624 (GRCm39)	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,717,776 (GRCm39)	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,024,739 (GRCm39)	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,340,989 (GRCm39)	V673A	possibly damaging	Het
Zfpm2	A	T	15: 40,965,877 (GRCm39)	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,157,798 (GRCm39)	N694D	probably benign	Het

Other mutations in Or7e177

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Or7e177	APN	9	20,211,880 (GRCm39)	missense	probably damaging	1.00
IGL02268:Or7e177	APN	9	20,211,588 (GRCm39)	missense	probably damaging	1.00
IGL02416:Or7e177	APN	9	20,211,541 (GRCm39)	missense	probably benign	0.01
IGL03124:Or7e177	APN	9	20,212,459 (GRCm39)	missense	probably benign	0.00
R0147:Or7e177	UTSW	9	20,212,387 (GRCm39)	missense	probably damaging	1.00
R0148:Or7e177	UTSW	9	20,212,387 (GRCm39)	missense	probably damaging	1.00
R0266:Or7e177	UTSW	9	20,212,454 (GRCm39)	missense	probably benign	0.01
R0831:Or7e177	UTSW	9	20,211,861 (GRCm39)	missense	probably benign	0.20
R1894:Or7e177	UTSW	9	20,211,633 (GRCm39)	missense	probably benign	0.23
R1928:Or7e177	UTSW	9	20,212,354 (GRCm39)	missense	probably benign	0.12
R2135:Or7e177	UTSW	9	20,211,593 (GRCm39)	missense	probably benign	0.00
R2379:Or7e177	UTSW	9	20,211,963 (GRCm39)	missense	possibly damaging	0.87
R2911:Or7e177	UTSW	9	20,211,775 (GRCm39)	missense	possibly damaging	0.60
R3788:Or7e177	UTSW	9	20,211,666 (GRCm39)	missense	probably benign	0.13
R4657:Or7e177	UTSW	9	20,211,919 (GRCm39)	missense	probably damaging	1.00
R5754:Or7e177	UTSW	9	20,212,390 (GRCm39)	missense	probably damaging	1.00
R6291:Or7e177	UTSW	9	20,211,899 (GRCm39)	missense	probably damaging	1.00
R6410:Or7e177	UTSW	9	20,211,748 (GRCm39)	missense	probably damaging	1.00
R7014:Or7e177	UTSW	9	20,211,959 (GRCm39)	nonsense	probably null
R7521:Or7e177	UTSW	9	20,212,036 (GRCm39)	missense	probably benign	0.00
R8201:Or7e177	UTSW	9	20,212,317 (GRCm39)	missense	probably damaging	1.00
R8355:Or7e177	UTSW	9	20,211,715 (GRCm39)	missense	probably damaging	1.00
R8455:Or7e177	UTSW	9	20,211,715 (GRCm39)	missense	probably damaging	1.00
R8523:Or7e177	UTSW	9	20,212,093 (GRCm39)	missense	probably benign	0.10
R8874:Or7e177	UTSW	9	20,212,069 (GRCm39)	missense	possibly damaging	0.95
R9283:Or7e177	UTSW	9	20,212,419 (GRCm39)	missense	possibly damaging	0.61
R9397:Or7e177	UTSW	9	20,211,748 (GRCm39)	missense	possibly damaging	0.50
R9595:Or7e177	UTSW	9	20,211,661 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCTGTCAACTCTGACTCCAAC -3'
(R):5'- CAGTGTATATCAGTGAGGCCACTGC -3'

Sequencing Primer
(F):5'- CTATGTGGGATGCCTTACACAG -3'
(R):5'- TTCTGGGAGAATGTGATACAGC -3'

Posted On

2014-03-14