Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Olfr1480'

442361

Institutional Source

Beutler Lab

Gene Symbol

Olfr1480

Ensembl Gene

ENSMUSG00000095484

Gene Name

olfactory receptor 1480

Synonyms

MOR202-44, GA_x6K02T2RE5P-3862389-3863336

MMRRC Submission

043302-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13527913-13531275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13530380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

Ref Sequence

ENSEMBL: ENSMUSP00000146931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072219] [ENSMUST00000207093] [ENSMUST00000207904] [ENSMUST00000207987]

AlphaFold

A0A140LIR8

Predicted Effect

probably benign
Transcript: ENSMUST00000072219
AA Change: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072076
Gene: ENSMUSG00000095484
AA Change: T236A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	8.2e-54	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.6e-6	PFAM
Pfam:7tm_1	40	289	4.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207093
AA Change: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207904
AA Change: T236A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207987
AA Change: T280A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216709

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514	H363L	probably benign	Het
Ddx18	A	T	1: 121,561,358	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,064	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127	T552A	probably damaging	Het
Fbp1	C	A	13: 62,875,196	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126		probably null	Het
Klhl41	T	A	2: 69,683,532	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286		probably benign	Het
Melk	A	G	4: 44,312,237	K183R	possibly damaging	Het
Mta1	T	C	12: 113,123,139	V152A	probably damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Nav3	A	C	10: 109,764,633	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871	R651*	probably null	Het
Olfr397	T	A	11: 73,964,710	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717	R364W	probably damaging	Het
Phactr2	T	C	10: 13,388,703	D2G	probably benign	Het
Phc3	G	T	3: 30,965,866	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974		probably null	Het
Prdm10	C	T	9: 31,353,417	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664		probably benign	Het
Sptlc2	A	T	12: 87,346,761	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417		probably null	Het
Zfp644	A	G	5: 106,637,982	V233A	probably benign	Het

Other mutations in Olfr1480

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Olfr1480	APN	19	13529850	missense	probably damaging	1.00
IGL01446:Olfr1480	APN	19	13530252	missense	probably benign	0.00
IGL02300:Olfr1480	APN	19	13529880	missense	probably damaging	1.00
IGL02689:Olfr1480	APN	19	13529807	missense	probably benign	0.34
IGL03119:Olfr1480	APN	19	13530435	missense	probably benign	0.11
R0636:Olfr1480	UTSW	19	13530249	missense	possibly damaging	0.89
R1665:Olfr1480	UTSW	19	13529838	missense	probably damaging	1.00
R1708:Olfr1480	UTSW	19	13529913	missense	probably damaging	1.00
R2100:Olfr1480	UTSW	19	13530434	missense	probably benign	0.02
R2137:Olfr1480	UTSW	19	13530438	missense	probably damaging	0.98
R3879:Olfr1480	UTSW	19	13530249	missense	probably damaging	1.00
R3949:Olfr1480	UTSW	19	13530020	missense	probably damaging	0.99
R4780:Olfr1480	UTSW	19	13529955	missense	probably benign	0.30
R4953:Olfr1480	UTSW	19	13529814	missense	probably null	1.00
R5075:Olfr1480	UTSW	19	13530273	missense	probably benign	0.17
R5133:Olfr1480	UTSW	19	13530078	missense	probably damaging	1.00
R6853:Olfr1480	UTSW	19	13529931	missense	possibly damaging	0.48
R6890:Olfr1480	UTSW	19	13530081	missense	probably damaging	1.00
R7481:Olfr1480	UTSW	19	13530453	missense	probably damaging	1.00
R7663:Olfr1480	UTSW	19	13530445	missense	probably damaging	0.96
R8869:Olfr1480	UTSW	19	13530528	missense	probably damaging	1.00
R9425:Olfr1480	UTSW	19	13529858	missense	probably damaging	1.00
R9531:Olfr1480	UTSW	19	13530572	missense	probably benign	0.01
R9571:Olfr1480	UTSW	19	13530333	missense	probably damaging	1.00
Z1088:Olfr1480	UTSW	19	13529852	missense	possibly damaging	0.64
Z1177:Olfr1480	UTSW	19	13530215	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAGTGGACTCTTACAATCTTCC -3'
(R):5'- TCCAGCAACTTTCTTGAATGC -3'

Sequencing Primer
(F):5'- CTGCCATTCTAATGTAGTCAATCAC -3'
(R):5'- GCAACTTTCTTGAATGCATTCTTGAC -3'

Posted On

2016-11-09