Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Olfr378'

269010

Institutional Source

Beutler Lab

Gene Symbol

Olfr378

Ensembl Gene

ENSMUSG00000055971

Gene Name

olfactory receptor 378

Synonyms

MOR135-2, GA_x6K02T2P1NL-3586282-3585338

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73424609-73428477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73425852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 44 (I44V)

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069790] [ENSMUST00000117349]

AlphaFold

Q8VGT2

Predicted Effect

probably benign
Transcript: ENSMUST00000069790
AA Change: I44V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: I44V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117349
AA Change: I44V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113524
Gene: ENSMUSG00000084387
AA Change: I44V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	297	7.9e-6	PFAM
Pfam:7tm_1	41	290	3.3e-34	PFAM
Pfam:7tm_4	139	283	2.8e-40	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
R2005:Olfr378	UTSW	11	73425239	missense	probably damaging	1.00
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
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
R8977:Olfr378	UTSW	11	73425825	missense	probably benign	0.02
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'- ATAGCGGTCATAGGCCATGG -3'
(R):5'- TCATTGGGAATGTTAACTGCTGC -3'

Sequencing Primer
(F):5'- AAGAAGTATATTTGTGCCAGGCAACC -3'
(R):5'- GAAGAAACCAAACTGTCATC -3'

Posted On

2015-02-19