Mutagenetix > Incidental Mutation

Incidental Mutation 'R0601:Olfr646'

55402

Institutional Source

Beutler Lab

Gene Symbol

Olfr646

Ensembl Gene

ENSMUSG00000073931

Gene Name

olfactory receptor 646

Synonyms

GA_x6K02T2PBJ9-6841330-6842268, MOR33-2

MMRRC Submission

038790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R0601 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

104104873-104109766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104107142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 288 (I288F)

Ref Sequence

ENSEMBL: ENSMUSP00000149102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]

AlphaFold

Q8VGW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098182
AA Change: I288F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: I288F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	1.9e-109	PFAM
Pfam:7TM_GPCR_Srsx	32	225	6.1e-10	PFAM
Pfam:7tm_1	38	290	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214099
AA Change: I288F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214291

Meta Mutation Damage Score

0.0814

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,810,189	D143A	probably damaging	Het
Abca9	C	T	11: 110,117,058		probably null	Het
Abcc5	A	G	16: 20,404,559		probably benign	Het
Ablim3	T	A	18: 61,849,370	D168V	probably benign	Het
Acsl3	C	T	1: 78,696,179	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,498,429		probably benign	Het
Arhgap29	A	G	3: 121,991,110	K229E	probably damaging	Het
Atad3a	A	T	4: 155,747,407	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,571,653		probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,164,255	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,947,283		probably benign	Het
Bptf	T	A	11: 107,061,692	T2112S	probably benign	Het
Btnl4	T	C	17: 34,469,311	K498E	probably benign	Het
Calhm2	A	G	19: 47,141,030		probably null	Het
Capn3	A	T	2: 120,502,596		probably null	Het
Caps2	T	C	10: 112,195,790	F265L	possibly damaging	Het
Casp3	G	T	8: 46,636,227	C170F	probably benign	Het
Ccdc39	T	C	3: 33,819,839	R615G	probably damaging	Het
Cd177	A	G	7: 24,752,313	I426T	probably benign	Het
Cfap53	G	A	18: 74,300,150	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,593,885		noncoding transcript	Het
Col7a1	T	C	9: 108,980,584		probably benign	Het
Cplx3	T	C	9: 57,606,074	E24G	possibly damaging	Het
D11Wsu47e	T	A	11: 113,687,886	S36T	probably benign	Het
Dhx30	A	G	9: 110,086,714		probably null	Het
Dnah8	T	A	17: 30,708,358	N1329K	probably benign	Het
Dnajc11	C	G	4: 151,969,936	R200G	probably damaging	Het
Dok3	A	T	13: 55,524,263	F201I	probably benign	Het
Dpf2	A	T	19: 5,902,212	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,735,039		probably benign	Het
Elk3	T	C	10: 93,265,481	E136G	probably damaging	Het
Ephb1	T	C	9: 102,195,130	D150G	probably damaging	Het
Erbb3	A	G	10: 128,577,012	S570P	probably benign	Het
F2	A	T	2: 91,633,311		probably null	Het
Fanca	A	T	8: 123,308,513	M231K	probably damaging	Het
Fbxo34	T	C	14: 47,530,257	V358A	probably benign	Het
Foxp1	C	T	6: 98,930,122	E666K	probably damaging	Het
Fto	A	G	8: 91,401,802		probably null	Het
Gbp2	C	T	3: 142,630,758	R290C	possibly damaging	Het
Grik2	T	G	10: 49,422,597	S343R	probably damaging	Het
Heatr5b	A	T	17: 78,768,545	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,146,429		probably null	Het
Htt	T	C	5: 34,846,003	V1274A	probably benign	Het
Kcnh8	A	G	17: 52,894,005	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,458,397		probably benign	Het
Kdm5a	A	G	6: 120,402,671	T647A	possibly damaging	Het
Krt72	T	C	15: 101,786,056	R135G	probably damaging	Het
Larp7	T	A	3: 127,544,209	K400N	probably damaging	Het
Lifr	T	C	15: 7,169,272		probably null	Het
Lima1	G	A	15: 99,780,472	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,235,239		probably null	Het
Map1a	A	G	2: 121,298,602	R116G	probably damaging	Het
Map3k13	A	G	16: 21,905,249	E327G	possibly damaging	Het
Med13	A	G	11: 86,345,962	V123A	possibly damaging	Het
Megf8	A	C	7: 25,328,540	H205P	probably benign	Het
Met	G	A	6: 17,555,632		probably null	Het
Mfsd14b	A	C	13: 65,087,150	V71G	possibly damaging	Het
Mpl	T	A	4: 118,443,536	T599S	probably benign	Het
Myh15	A	T	16: 49,061,581	D62V	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Myrfl	A	G	10: 116,776,760	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,490,363		probably benign	Het
Ncapd3	T	A	9: 27,041,507	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,948,249		probably benign	Het
Nsun2	G	T	13: 69,633,242	V657L	probably benign	Het
Olfr1026	A	T	2: 85,923,378	I37F	probably benign	Het
Olfr1247	T	A	2: 89,609,220	N294I	probably benign	Het
Olfr142	T	C	2: 90,252,934	D18G	probably benign	Het
Olfr1511	C	A	14: 52,389,826	G316*	probably null	Het
Olfr195	G	A	16: 59,149,754	M301I	probably benign	Het
Olfr596	T	C	7: 103,310,164	S148P	probably damaging	Het
Olfr780	T	A	10: 129,322,016	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,299,403	V795D	probably benign	Het
Osbpl5	T	C	7: 143,709,549	D155G	probably damaging	Het
Parm1	G	A	5: 91,594,264	V164I	probably benign	Het
Pgd	A	T	4: 149,156,810		probably benign	Het
Pkp1	G	A	1: 135,878,182	R593W	probably damaging	Het
Polr2l	A	T	7: 141,473,342	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,787,288	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,600,520		probably benign	Het
Ptprd	A	G	4: 76,100,474	S688P	probably benign	Het
Rab3b	A	T	4: 108,890,389	I28F	probably damaging	Het
Rnase4	T	C	14: 51,105,095	L92P	probably benign	Het
Rnpc3	T	C	3: 113,620,106	E229G	probably benign	Het
Rtraf	A	T	14: 19,816,206	D147E	possibly damaging	Het
Rttn	G	A	18: 89,042,966	G1086D	probably benign	Het
Ryr2	A	G	13: 11,705,633		probably null	Het
Sft2d2	T	C	1: 165,183,861	I126V	probably benign	Het
Skap1	G	T	11: 96,723,410		probably benign	Het
Slc14a2	A	T	18: 78,157,179	L753*	probably null	Het
Slc25a5	G	A	X: 36,795,755	A9T	probably benign	Het
Slc30a5	T	C	13: 100,814,770		probably benign	Het
Slc5a4b	A	C	10: 76,064,036	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,603,070	S400C	probably damaging	Het
Slx1b	T	A	7: 126,692,640	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,150,008	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,531,566	Q138R	probably damaging	Het
Syt6	C	A	3: 103,620,890	D308E	probably damaging	Het
Sytl2	G	A	7: 90,395,166	D572N	probably damaging	Het
Taok2	A	T	7: 126,879,433	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,179,319		probably benign	Het
Tlk1	A	G	2: 70,714,158	I711T	probably benign	Het
Trf	A	G	9: 103,222,933		probably null	Het
Trpc2	A	G	7: 102,084,365	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,825,296	I29N	possibly damaging	Het
Tti1	A	T	2: 157,993,372	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256	Y108H	probably benign	Het
Ugt2b1	A	T	5: 86,917,680	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,637,664	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,360,100	K849R	probably null	Het
Vmn2r76	T	A	7: 86,226,115		probably null	Het
Vps13c	T	A	9: 67,927,472	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,836,172	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Wdr60	T	C	12: 116,255,935	D129G	possibly damaging	Het
Wnt8b	T	A	19: 44,493,667	W40R	probably benign	Het
Xrra1	A	G	7: 99,910,968	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,657,907	H163Q	probably damaging	Het

Other mutations in Olfr646

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Olfr646	APN	7	104106633	missense	probably damaging	1.00
IGL02454:Olfr646	APN	7	104106612	missense	probably damaging	0.96
IGL02588:Olfr646	APN	7	104107053	missense	possibly damaging	0.94
IGL02961:Olfr646	APN	7	104107150	nonsense	probably null
IGL03092:Olfr646	APN	7	104106647	missense	probably damaging	0.99
PIT4402001:Olfr646	UTSW	7	104106450	missense	probably damaging	1.00
R0006:Olfr646	UTSW	7	104106320	missense	probably benign	0.00
R0109:Olfr646	UTSW	7	104106605	missense	probably damaging	1.00
R0109:Olfr646	UTSW	7	104106605	missense	probably damaging	1.00
R0732:Olfr646	UTSW	7	104106294	missense	probably damaging	1.00
R1320:Olfr646	UTSW	7	104106480	missense	probably damaging	1.00
R1468:Olfr646	UTSW	7	104106689	missense	possibly damaging	0.82
R1468:Olfr646	UTSW	7	104106689	missense	possibly damaging	0.82
R1513:Olfr646	UTSW	7	104106464	missense	probably benign	0.02
R5486:Olfr646	UTSW	7	104106498	missense	probably damaging	0.99
R6110:Olfr646	UTSW	7	104106572	missense	probably damaging	1.00
R6497:Olfr646	UTSW	7	104107215	intron	probably benign
R6856:Olfr646	UTSW	7	104106791	missense	probably benign	0.00
R7766:Olfr646	UTSW	7	104106994	nonsense	probably null
R7789:Olfr646	UTSW	7	104106988	missense	probably damaging	0.99
R7844:Olfr646	UTSW	7	104106483	missense	probably damaging	1.00
R8888:Olfr646	UTSW	7	104107095	missense	probably damaging	1.00
R8895:Olfr646	UTSW	7	104107095	missense	probably damaging	1.00
R9167:Olfr646	UTSW	7	104107219	makesense	probably null
R9178:Olfr646	UTSW	7	104106513	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCTTGCCTGTGCCAATATTACTGT -3'
(R):5'- CGTCTTCCTTCCAGAGAGCTGATGA -3'

Sequencing Primer
(F):5'- CCGTGATGCTCAACACAAGG -3'
(R):5'- CCAGAGAGCTGATGATATAATGTCC -3'

Posted On

2013-07-11