Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Or7e178'

34276

Institutional Source

Beutler Lab

Gene Symbol

Or7e178

Ensembl Gene

ENSMUSG00000066896

Gene Name

olfactory receptor family 7 subfamily E member 178

Synonyms

MTPCR34, MOR145-1, Olfr18, GA_x6K02T2PVTD-14054886-14053957

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20225188-20247390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20225707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 170 (S170P)

Ref Sequence

ENSEMBL: ENSMUSP00000083664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086473] [ENSMUST00000212943]

AlphaFold

Q0VAX9

Predicted Effect

probably benign
Transcript: ENSMUST00000086473
AA Change: S170P

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000083664
Gene: ENSMUSG00000066896
AA Change: S170P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	53	330	1.2e-54	PFAM
Pfam:7TM_GPCR_Srsx	57	234	3.2e-9	PFAM
Pfam:7tm_1	63	312	4.7e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212727

Predicted Effect

probably benign
Transcript: ENSMUST00000212943
AA Change: S162P

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220241

Meta Mutation Damage Score

0.2939

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Dppa4	T	A	16: 48,109,687 (GRCm39)		probably benign	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Itgav	G	T	2: 83,622,953 (GRCm39)	C675F	probably damaging	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or1e26	A	G	11: 73,480,283 (GRCm39)	Y94H	probably damaging	Het
Or4z4	A	T	19: 12,076,803 (GRCm39)	S67T	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Ptafr	T	A	4: 132,307,390 (GRCm39)	L260*	probably null	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	Het

Other mutations in Or7e178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Or7e178	APN	9	20,226,015 (GRCm39)	missense	probably damaging	1.00
IGL02412:Or7e178	APN	9	20,225,935 (GRCm39)	missense	probably benign
IGL03288:Or7e178	APN	9	20,247,207 (GRCm39)	critical splice donor site	probably null
IGL03395:Or7e178	APN	9	20,225,847 (GRCm39)	missense	probably damaging	1.00
R0332:Or7e178	UTSW	9	20,225,352 (GRCm39)	missense	probably benign	0.00
R0569:Or7e178	UTSW	9	20,225,875 (GRCm39)	missense	probably damaging	1.00
R0798:Or7e178	UTSW	9	20,225,495 (GRCm39)	nonsense	probably null
R0865:Or7e178	UTSW	9	20,226,045 (GRCm39)	missense	probably damaging	1.00
R1082:Or7e178	UTSW	9	20,225,765 (GRCm39)	missense	possibly damaging	0.52
R1905:Or7e178	UTSW	9	20,226,142 (GRCm39)	missense	probably benign
R4245:Or7e178	UTSW	9	20,225,629 (GRCm39)	missense	possibly damaging	0.87
R5566:Or7e178	UTSW	9	20,225,265 (GRCm39)	missense	probably benign
R6306:Or7e178	UTSW	9	20,225,742 (GRCm39)	missense	probably benign	0.25
R6721:Or7e178	UTSW	9	20,225,576 (GRCm39)	missense	probably benign	0.24
R6787:Or7e178	UTSW	9	20,247,221 (GRCm39)	missense	probably benign
R6930:Or7e178	UTSW	9	20,225,395 (GRCm39)	missense	probably damaging	1.00
R7196:Or7e178	UTSW	9	20,225,494 (GRCm39)	missense	probably benign	0.38
R7711:Or7e178	UTSW	9	20,225,319 (GRCm39)	missense	possibly damaging	0.66
R8023:Or7e178	UTSW	9	20,225,545 (GRCm39)	missense	probably benign	0.00
R8029:Or7e178	UTSW	9	20,225,643 (GRCm39)	missense	possibly damaging	0.59
R8050:Or7e178	UTSW	9	20,225,941 (GRCm39)	missense	probably damaging	1.00
R8058:Or7e178	UTSW	9	20,225,476 (GRCm39)	missense	probably damaging	0.99
R8159:Or7e178	UTSW	9	20,226,015 (GRCm39)	missense	possibly damaging	0.96
R8201:Or7e178	UTSW	9	20,225,908 (GRCm39)	missense	probably benign	0.10
R9022:Or7e178	UTSW	9	20,225,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCACCAGGTGATGGCATTCTAAG -3'
(R):5'- TGGACATTCAGACTCACAACAGAGC -3'

Sequencing Primer
(F):5'- CAGGTGATGGCATTCTAAGAATGG -3'
(R):5'- GAGCCATCTCCTATTCAGGATGC -3'

Posted On

2013-05-09