Mutagenetix > Incidental Mutations

Incidental Mutation 'R2005:Olfr378'

225398

Institutional Source

Beutler Lab

Gene Symbol

Olfr378

Ensembl Gene

ENSMUSG00000055971

Gene Name

olfactory receptor 378

Synonyms

MOR135-2, GA_x6K02T2P1NL-3586282-3585338

MMRRC Submission

040014-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73424609-73428477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73425239 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 248 (V248E)

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069790]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069790
AA Change: V248E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: V248E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	297	7.9e-6	PFAM
Pfam:7tm_1	41	290	3.8e-25	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

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
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Atg9a	T	A	1: 75,185,991	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475		probably null	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351	D445E	probably benign	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably damaging	Het

Other mutations in Olfr378

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01996:Olfr378	APN	11	73425968	missense	probably damaging	1.00
IGL02427:Olfr378	APN	11	73425661	missense	probably damaging	1.00
IGL03089:Olfr378	APN	11	73425183	missense	probably benign
R0443:Olfr378	UTSW	11	73425755	missense	probably damaging	1.00
R1497:Olfr378	UTSW	11	73425827	missense	possibly damaging	0.88
R2029:Olfr378	UTSW	11	73425362	missense	probably benign	0.00
R2140:Olfr378	UTSW	11	73425881	missense	probably damaging	0.98
R3551:Olfr378	UTSW	11	73425852	missense	probably benign	0.00
R3552:Olfr378	UTSW	11	73425852	missense	probably benign	0.00
R4433:Olfr378	UTSW	11	73425711	missense	possibly damaging	0.50
R4546:Olfr378	UTSW	11	73425186	missense	probably benign	0.23
R4686:Olfr378	UTSW	11	73425438	missense	probably benign	0.35
R5168:Olfr378	UTSW	11	73425843	missense	probably benign	0.01
R5567:Olfr378	UTSW	11	73425446	missense	probably damaging	1.00
R5755:Olfr378	UTSW	11	73425731	missense	probably benign	0.22
R7190:Olfr378	UTSW	11	73425164	missense	probably benign	0.07
R7287:Olfr378	UTSW	11	73425843	missense	probably benign	0.01
R7404:Olfr378	UTSW	11	73425593	missense	probably damaging	1.00
R7462:Olfr378	UTSW	11	73425470	missense	probably benign	0.06
R7544:Olfr378	UTSW	11	73425770	missense	probably damaging	1.00
R7702:Olfr378	UTSW	11	73433349	unclassified	probably benign
R8408:Olfr378	UTSW	11	73425968	missense	probably damaging	1.00
X0010:Olfr378	UTSW	11	73425151	missense	possibly damaging	0.59
Z1088:Olfr378	UTSW	11	73425105	splice site	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGAAGGGAATTTGTCTTTTGCAC -3'
(R):5'- CTGTGAAGACAATGTGATCCCC -3'

Sequencing Primer
(F):5'- GGGAATTTGTCTTTTGCACATTATC -3'
(R):5'- AAAGTGGCTTGTTCTGACACC -3'

Posted On

2014-08-25