Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Olfr979'

438824

Institutional Source

Beutler Lab

Gene Symbol

Olfr979

Ensembl Gene

ENSMUSG00000059473

Gene Name

olfactory receptor 979

Synonyms

MOR223-1, GA_x6K02T2PVTD-33699706-33698771

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5587 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39998003-40003465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40000621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 202 (I202N)

Ref Sequence

ENSEMBL: ENSMUSP00000148903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080835] [ENSMUST00000215523] [ENSMUST00000216463]

AlphaFold

Q8VH10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080835
AA Change: I202N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079648
Gene: ENSMUSG00000059473
AA Change: I202N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	7.9e-58	PFAM
Pfam:7tm_1	39	287	5.2e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215523
AA Change: I202N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000216463

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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
1110002E22Rik	A	G	3: 138,065,409 (GRCm38)	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084 (GRCm38)	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767 (GRCm38)	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360 (GRCm38)	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476 (GRCm38)	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247 (GRCm38)	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210 (GRCm38)	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412 (GRCm38)	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634 (GRCm38)	Y10*	probably null	Het
Bmp2	T	A	2: 133,554,646 (GRCm38)	V74E	possibly damaging	Het
Ccdc78	C	A	17: 25,786,677 (GRCm38)	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484 (GRCm38)	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738 (GRCm38)	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531 (GRCm38)	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514 (GRCm38)		probably null	Het
Cwf19l1	G	A	19: 44,120,877 (GRCm38)	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203 (GRCm38)	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913 (GRCm38)	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242 (GRCm38)	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267 (GRCm38)	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951 (GRCm38)	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148 (GRCm38)	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207 (GRCm38)	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075 (GRCm38)	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122 (GRCm38)		probably benign	Het
Hepacam	A	G	9: 37,384,684 (GRCm38)	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550 (GRCm38)	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308 (GRCm38)	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220 (GRCm38)	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593 (GRCm38)	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679 (GRCm38)	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530 (GRCm38)	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342 (GRCm38)	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714 (GRCm38)	Y223C		Het
Lrit3	G	T	3: 129,788,898 (GRCm38)	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263 (GRCm38)	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970 (GRCm38)	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489 (GRCm38)		probably benign	Het
Olfr1342	T	A	4: 118,689,870 (GRCm38)	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576 (GRCm38)	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621 (GRCm38)	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531 (GRCm38)	Y170N	probably benign	Het
Olfr984	A	T	9: 40,101,244 (GRCm38)	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822 (GRCm38)	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873 (GRCm38)	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832 (GRCm38)	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265 (GRCm38)	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555 (GRCm38)	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859 (GRCm38)	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473 (GRCm38)	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619 (GRCm38)		probably benign	Het
Rsf1	T	C	7: 97,662,121 (GRCm38)	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291 (GRCm38)	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081 (GRCm38)	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427 (GRCm38)	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851 (GRCm38)		probably null	Het
Sis	A	G	3: 72,914,576 (GRCm38)	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618 (GRCm38)	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801 (GRCm38)	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625 (GRCm38)	H345R	unknown	Het
Suox	A	T	10: 128,671,825 (GRCm38)	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828 (GRCm38)	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762 (GRCm38)	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421 (GRCm38)	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566 (GRCm38)	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992 (GRCm38)	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271 (GRCm38)	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596 (GRCm38)	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704 (GRCm38)		probably benign	Het
Tshz2	A	T	2: 169,884,342 (GRCm38)	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659 (GRCm38)	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138 (GRCm38)	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076 (GRCm38)	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487 (GRCm38)	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561 (GRCm38)	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235 (GRCm38)	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762 (GRCm38)	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858 (GRCm38)	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321 (GRCm38)	K487R	possibly damaging	Het

Other mutations in Olfr979

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Olfr979	APN	9	40,000,886 (GRCm38)	missense	probably damaging	1.00
IGL02939:Olfr979	APN	9	40,000,898 (GRCm38)	missense	probably benign	0.26
IGL02991:Olfr979	UTSW	9	40,000,402 (GRCm38)	missense	probably damaging	1.00
R1388:Olfr979	UTSW	9	40,000,652 (GRCm38)	missense	probably damaging	0.99
R1572:Olfr979	UTSW	9	40,001,194 (GRCm38)	missense	probably benign	0.35
R2089:Olfr979	UTSW	9	40,001,204 (GRCm38)	missense	probably benign	0.01
R2091:Olfr979	UTSW	9	40,001,204 (GRCm38)	missense	probably benign	0.01
R2091:Olfr979	UTSW	9	40,001,204 (GRCm38)	missense	probably benign	0.01
R2179:Olfr979	UTSW	9	40,000,924 (GRCm38)	missense	probably benign	0.44
R3424:Olfr979	UTSW	9	40,000,534 (GRCm38)	missense	probably damaging	0.97
R3964:Olfr979	UTSW	9	40,000,471 (GRCm38)	missense	possibly damaging	0.95
R3965:Olfr979	UTSW	9	40,000,471 (GRCm38)	missense	possibly damaging	0.95
R4111:Olfr979	UTSW	9	40,000,898 (GRCm38)	nonsense	probably null
R4537:Olfr979	UTSW	9	40,000,320 (GRCm38)	missense	probably benign	0.01
R4737:Olfr979	UTSW	9	40,000,422 (GRCm38)	missense	probably damaging	0.96
R4926:Olfr979	UTSW	9	40,001,023 (GRCm38)	splice site	probably null
R5303:Olfr979	UTSW	9	40,000,588 (GRCm38)	missense	probably damaging	1.00
R6387:Olfr979	UTSW	9	40,000,852 (GRCm38)	missense	probably damaging	0.99
R6394:Olfr979	UTSW	9	40,000,705 (GRCm38)	missense	probably benign	0.04
R6765:Olfr979	UTSW	9	40,001,197 (GRCm38)	missense	probably damaging	1.00
R7312:Olfr979	UTSW	9	40,000,810 (GRCm38)	missense	probably benign	0.22
R7463:Olfr979	UTSW	9	40,000,564 (GRCm38)	missense	probably benign	0.07
R7486:Olfr979	UTSW	9	40,000,885 (GRCm38)	missense	probably benign	0.39
R7581:Olfr979	UTSW	9	40,000,422 (GRCm38)	missense	probably damaging	0.96
R8364:Olfr979	UTSW	9	40,000,364 (GRCm38)	missense	probably benign	0.22
R8414:Olfr979	UTSW	9	40,000,945 (GRCm38)	missense	probably benign	0.19
R9049:Olfr979	UTSW	9	40,000,623 (GRCm38)	missense	possibly damaging	0.56
R9567:Olfr979	UTSW	9	40,001,071 (GRCm38)	missense	possibly damaging	0.95
R9632:Olfr979	UTSW	9	40,000,876 (GRCm38)	missense	probably damaging	1.00
R9710:Olfr979	UTSW	9	40,000,876 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGTAGGGGTGTCAACAC -3'
(R):5'- GCAGCAGGAACATGGATCAC -3'

Sequencing Primer
(F):5'- TCCACAGCATCCCTGGAG -3'
(R):5'- CAGGAACATGGATCACTGGTTCC -3'

Posted On

2016-10-26