Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Olfr378'

168977

Institutional Source

Beutler Lab

Gene Symbol

Olfr378

Ensembl Gene

ENSMUSG00000055971

Gene Name

olfactory receptor 378

Synonyms

MOR135-2, GA_x6K02T2P1NL-3586282-3585338

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73424609-73428477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73425827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 52 (D52V)

Ref Sequence

ENSEMBL: ENSMUSP00000066971 (fasta)

Gene Model

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

AlphaFold

Q8VGT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069790
AA Change: D52V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: D52V

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

Meta Mutation Damage Score

0.3673

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,973,821		probably benign	Het
Abhd17a	A	G	10: 80,584,330		probably benign	Het
Acacb	G	A	5: 114,196,807	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,928,311	M262V	probably benign	Het
Anapc7	T	A	5: 122,435,515		probably benign	Het
Car5b	T	A	X: 163,988,404	K188N	probably benign	Het
Caskin1	C	T	17: 24,504,541	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938	S331P	probably benign	Het
Ccdc68	C	T	18: 69,960,514		probably benign	Het
Cd44	A	T	2: 102,842,955		probably null	Het
Celsr3	A	G	9: 108,848,865	S3090G	probably benign	Het
Clasp1	A	T	1: 118,552,058	M1023L	probably benign	Het
Clec16a	T	C	16: 10,635,259	F608S	probably damaging	Het
Col7a1	A	C	9: 108,978,825	E2531A	unknown	Het
Ctc1	T	A	11: 69,022,561	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,782,022		noncoding transcript	Het
Cyp2j6	T	A	4: 96,531,661	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,904,113	S723R	probably damaging	Het
Dhx8	A	G	11: 101,735,387		probably benign	Het
Dnah17	A	T	11: 118,114,233	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,752,075	T2701K	probably damaging	Het
Eml3	T	A	19: 8,936,369	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,272,247	E96G	possibly damaging	Het
Ezr	T	C	17: 6,742,708	H314R	probably benign	Het
Fam193b	G	T	13: 55,554,434	H43Q	probably damaging	Het
Fam208b	T	C	13: 3,570,409	E2164G	probably damaging	Het
Fam217a	T	A	13: 34,911,212	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,384,802	Q89H	probably damaging	Het
Flg2	A	T	3: 93,219,769	H1996L	unknown	Het
Gabpb1	C	T	2: 126,639,249	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,437,939	V36A	probably benign	Het
Hspg2	A	G	4: 137,548,096	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,577,995		probably null	Het
Ipo13	T	C	4: 117,904,659	D448G	probably benign	Het
Kcnq5	T	C	1: 21,402,386	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,736,266	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,314,515	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,747,329	F235S	probably damaging	Het
Maml1	A	C	11: 50,265,707	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,493,863	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,257,381	N534K	possibly damaging	Het
Mcat	G	A	15: 83,549,252	Q34*	probably null	Het
Mcu	T	A	10: 59,448,848	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,009,791	P199T	probably benign	Het
Mndal	A	T	1: 173,872,875	S177T	probably benign	Het
Mpeg1	G	T	19: 12,461,247	C23F	probably benign	Het
Mup15	T	A	4: 61,438,234	Y98F	probably benign	Het
Myh8	T	C	11: 67,289,812	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,753,218		probably benign	Het
Nlrp4e	T	C	7: 23,320,372	S95P	probably benign	Het
Olfr1196	T	C	2: 88,700,762	D189G	probably damaging	Het
Otop2	A	G	11: 115,329,849		probably null	Het
Pcnx4	G	C	12: 72,574,400	G998A	probably benign	Het
Pnkd	C	A	1: 74,351,522		probably null	Het
Ppp4r4	T	A	12: 103,606,945	V701E	probably benign	Het
Ryr2	A	G	13: 11,601,841	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Sdk2	G	A	11: 113,893,575		probably benign	Het
Serpinb5	A	T	1: 106,876,052	Q156L	probably benign	Het
Setdb1	A	T	3: 95,327,467	V975D	probably benign	Het
Shc1	A	G	3: 89,428,445	*470W	probably null	Het
Sik3	T	A	9: 46,202,022	V587E	probably damaging	Het
Sik3	C	A	9: 46,221,089	H1276Q	probably benign	Het
Spata7	T	C	12: 98,668,861	I384T	probably damaging	Het
Tanc2	T	A	11: 105,922,137	V1469D	probably benign	Het
Tdrd5	A	T	1: 156,255,802	N888K	probably benign	Het
Tex22	T	C	12: 113,075,380	S34P	probably benign	Het
Tmed6	T	C	8: 107,064,122	T98A	probably benign	Het
Trim66	G	A	7: 109,484,619	P141L	probably benign	Het
Trpa1	T	C	1: 14,885,812	I778V	probably benign	Het
Urb2	T	A	8: 124,028,077	H174Q	probably damaging	Het
Usb1	T	C	8: 95,338,697	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,137,409	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,611,794	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,620,990	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,167,363	V210A	probably benign	Het
Wdr17	A	T	8: 54,672,501	I448K	possibly damaging	Het
Zfp768	T	A	7: 127,343,561	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,771,105	N617Y	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
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
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
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'- GGGTGTCAGAACAAGCCACTTTAAGC -3'
(R):5'- CCTTCATTGGGAATGTTAACTGCTGC -3'

Sequencing Primer
(F):5'- GTCTTCACAGAATGACAATCTGGC -3'
(R):5'- CTGCTGCTATTTTTTCTGAAAAGGC -3'

Posted On

2014-04-13