Mutagenetix > Incidental Mutations

Incidental Mutation 'R1792:Olfr220'

201801

Institutional Source

Beutler Lab

Gene Symbol

Olfr220

Ensembl Gene

ENSMUSG00000066671

Gene Name

olfactory receptor 220

Synonyms

EG546747, GA_x6K02SYWY4V-595-239, Olfr413-ps1, GA_x6K02T2P20D-20731742-20730694, MOR103-17, MOR103-13P

MMRRC Submission

039822-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174442082-174451277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174448737 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000141919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085861] [ENSMUST00000194229]

Predicted Effect

probably benign
Transcript: ENSMUST00000085861
AA Change: V38A

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

SMART Domains

Protein: ENSMUSP00000083023
Gene: ENSMUSG00000066671
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	314	1.2e-51	PFAM
Pfam:7tm_1	46	295	3.6e-25	PFAM
low complexity region	315	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194229
AA Change: V38A

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

SMART Domains

Protein: ENSMUSP00000141919
Gene: ENSMUSG00000066671
AA Change: V38A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	46	295	6e-33	PFAM
Pfam:7tm_4	144	288	1.4e-44	PFAM
low complexity region	315	325	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,184,044	V1398I	probably benign	Het
Ackr3	A	T	1: 90,214,898	N360Y	probably benign	Het
Acr	T	G	15: 89,573,143	M198R	probably benign	Het
Adamts14	A	T	10: 61,218,498	M585K	probably benign	Het
Adgrb3	A	T	1: 25,228,471	C853S	probably damaging	Het
Arhgef28	G	T	13: 97,931,186	S1410R	probably benign	Het
Armc4	T	C	18: 7,286,743	T163A	probably benign	Het
Asprv1	T	A	6: 86,628,372	F67I	possibly damaging	Het
Atp8b4	T	A	2: 126,325,294	Y1095F	probably benign	Het
Cadps	A	G	14: 12,449,802	S1136P	possibly damaging	Het
Ccdc36	A	C	9: 108,404,912	S526A	possibly damaging	Het
Ccdc57	T	C	11: 120,897,881	Q380R	possibly damaging	Het
Cdc45	A	T	16: 18,807,340	D142E	probably benign	Het
Cs	A	T	10: 128,360,079	N386Y	possibly damaging	Het
Dsc3	A	T	18: 19,986,998	V201E	probably damaging	Het
Dusp26	G	T	8: 31,091,935	R19L	probably benign	Het
Esyt3	C	A	9: 99,358,116	E92*	probably null	Het
Ext2	T	C	2: 93,704,545	N625D	probably damaging	Het
Fam208b	T	C	13: 3,590,559	K193E	possibly damaging	Het
Flvcr2	A	T	12: 85,747,155	K102*	probably null	Het
Fmnl2	T	A	2: 53,042,317	S103T	possibly damaging	Het
Fmo4	T	A	1: 162,794,290	I451F	probably benign	Het
Gak	A	T	5: 108,585,531	Y47*	probably null	Het
Gbp10	A	T	5: 105,224,300	L198Q	probably damaging	Het
Gm11559	T	A	11: 99,864,929	S135T	unknown	Het
Gm14496	A	T	2: 181,996,153	D340V	probably benign	Het
Grin2a	T	C	16: 9,992,395	T47A	possibly damaging	Het
Gtf2ird1	A	T	5: 134,366,936		probably null	Het
Herc4	T	A	10: 63,245,901	M1K	probably null	Het
Hirip3	T	A	7: 126,862,620	V29E	probably damaging	Het
Hs3st5	A	G	10: 36,832,724	D85G	probably benign	Het
Htt	T	A	5: 34,907,199	S2981T	probably damaging	Het
Il20ra	G	A	10: 19,759,636	V542I	probably damaging	Het
Itgb2l	C	A	16: 96,425,082	C603F	probably damaging	Het
Klhl41	A	C	2: 69,670,802	K202N	probably benign	Het
Lct	G	A	1: 128,327,942	S121F	possibly damaging	Het
Lhx6	C	T	2: 36,087,375	G355D	probably damaging	Het
Limk2	A	G	11: 3,358,236	V121A	probably benign	Het
Med1	T	G	11: 98,157,283	K896Q	probably damaging	Het
Muc6	A	G	7: 141,634,458	F2789S	probably benign	Het
Nemf	T	A	12: 69,312,569	Y997F	probably damaging	Het
Nrap	A	G	19: 56,379,158	S296P	probably benign	Het
Nrxn1	T	C	17: 90,588,824	N961D	probably damaging	Het
Olfr398	A	C	11: 73,983,847	S254A	probably benign	Het
Olfr777	A	T	10: 129,269,243	F27I	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdk4	T	A	6: 5,489,166	H247L	probably damaging	Het
Pkd1l3	T	A	8: 109,632,605	V866E	probably damaging	Het
Pla2g4e	G	A	2: 120,168,474	P803L	probably damaging	Het
Pnisr	T	C	4: 21,860,968	V217A	possibly damaging	Het
Pole4	G	A	6: 82,652,739	P34L	unknown	Het
Pole4	G	T	6: 82,652,740	P34T	unknown	Het
Ptchd3	G	A	11: 121,841,551	W422*	probably null	Het
Rab1b	C	T	19: 5,100,485	A167T	probably benign	Het
Rasal1	T	C	5: 120,664,756	M359T	probably benign	Het
Rexo4	T	C	2: 26,960,236	N310D	probably benign	Het
Rgma	C	T	7: 73,417,837	T280M	probably damaging	Het
Rnaset2a	A	T	17: 8,145,576	I43N	probably damaging	Het
Rtcb	A	T	10: 85,942,582	V399E	probably damaging	Het
Scd4	T	G	19: 44,337,574	Y122*	probably null	Het
Sirt6	T	C	10: 81,626,521	I15V	possibly damaging	Het
Slamf8	A	T	1: 172,587,959	V104E	possibly damaging	Het
Slc12a4	A	G	8: 105,951,843	I285T	possibly damaging	Het
Slc25a13	G	A	6: 6,115,104	A207V	possibly damaging	Het
Slc6a21	T	C	7: 45,280,731	S185P	probably benign	Het
Smarcc2	A	C	10: 128,463,871	N135T	probably damaging	Het
Susd6	T	C	12: 80,874,291	S221P	probably damaging	Het
Syne1	C	T	10: 5,040,975	G8418D	probably damaging	Het
Tbc1d7	C	T	13: 43,165,377	V95I	probably benign	Het
Tcerg1l	T	C	7: 138,361,866	D225G	probably benign	Het
Tfip11	A	T	5: 112,329,397	I82F	possibly damaging	Het
Tmem41a	C	T	16: 21,936,981	G192S	probably null	Het
Trrap	G	A	5: 144,853,586	A3619T	possibly damaging	Het
Tspoap1	G	A	11: 87,765,881		probably null	Het
Wfdc21	T	C	11: 83,747,057	S11P	probably benign	Het
Zc2hc1b	A	T	10: 13,168,730	V63E	probably damaging	Het

Other mutations in Olfr220

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Olfr220	APN	1	174448667	missense	probably benign	0.00
IGL03369:Olfr220	APN	1	174448869	missense	probably damaging	1.00
R4090:Olfr220	UTSW	1	174448934	missense	probably benign	0.01
R4169:Olfr220	UTSW	1	174449596	missense	unknown
R4769:Olfr220	UTSW	1	174448958	missense	possibly damaging	0.80
R6652:Olfr220	UTSW	1	174449061	missense	probably damaging	1.00
R6930:Olfr220	UTSW	1	174449111	missense	probably damaging	1.00
R7237:Olfr220	UTSW	1	174449339	missense	probably benign	0.05
R8039:Olfr220	UTSW	1	174449596	missense	unknown
R8187:Olfr220	UTSW	1	174449272	frame shift	probably null
R8518:Olfr220	UTSW	1	174449176	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTAGTTCTTGGGACACAG -3'
(R):5'- ACTCAGTGCAGACAAAGGTC -3'

Sequencing Primer
(F):5'- GAAGGAACTGACGTTGCCTATGC -3'
(R):5'- TGCAGCCATTGAATGAGATGCTC -3'

Posted On

2014-06-23