Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Olfr1205'

585687

Institutional Source

Beutler Lab

Gene Symbol

Olfr1205

Ensembl Gene

ENSMUSG00000057447

Gene Name

olfactory receptor 1205

Synonyms

MOR230-1, MOR230-3, Olfr1203, GA_x6K02T2Q125-50304328-50305251, GA_x6K02T2Q125-50336588-50337313

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88829737-88837104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88831128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 4 (N4D)

Ref Sequence

ENSEMBL: ENSMUSP00000150206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076438] [ENSMUST00000215929]

AlphaFold

A2ATJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076438
AA Change: N4D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075769
Gene: ENSMUSG00000057447
AA Change: N4D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5e-45	PFAM
Pfam:7tm_1	39	285	9.1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215929
AA Change: N4D

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383	V339M	unknown	Het
Cr2	G	A	1: 195,169,340	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,424,569	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,119,373	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059		probably null	Het
Fam208b	A	G	13: 3,573,621	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405		probably benign	Het
Fbn1	G	T	2: 125,397,852	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542		probably null	Het
Heatr4	T	C	12: 83,979,644	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Ky	A	G	9: 102,542,329	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248		probably benign	Het
Magel2	A	G	7: 62,378,910	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674	W37*	probably null	Het
Myh14	T	C	7: 44,632,426	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089	T744S		Het
Ndufv3	A	G	17: 31,527,622	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379	E1288A	probably benign	Het
Olfr623	C	A	7: 103,660,881	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500		probably null	Het
Pcm1	T	G	8: 41,267,344	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748		probably null	Het
Prdm9	T	C	17: 15,555,652	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395		probably null	Het
Serpina1a	A	T	12: 103,853,837	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164	D251E		Het
Stc2	G	T	11: 31,367,798	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592		probably benign	Het
Zfp110	T	A	7: 12,849,340	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013	T445A	probably benign	Het

Other mutations in Olfr1205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Olfr1205	APN	2	88831112	splice site	probably null
IGL02079:Olfr1205	APN	2	88831647	missense	probably damaging	1.00
IGL02183:Olfr1205	APN	2	88832028	missense	probably benign
IGL02813:Olfr1205	APN	2	88831151	missense	probably benign	0.34
IGL02839:Olfr1205	APN	2	88831648	missense	probably damaging	1.00
IGL02895:Olfr1205	APN	2	88831642	missense	probably damaging	1.00
R0680:Olfr1205	UTSW	2	88831780	missense	probably benign
R2029:Olfr1205	UTSW	2	88831405	missense	possibly damaging	0.88
R2095:Olfr1205	UTSW	2	88831290	missense	probably damaging	1.00
R6158:Olfr1205	UTSW	2	88831146	missense	probably damaging	1.00
R6216:Olfr1205	UTSW	2	88831311	missense	probably damaging	1.00
R6240:Olfr1205	UTSW	2	88831363	missense	probably benign	0.22
R6377:Olfr1205	UTSW	2	88831269	nonsense	probably null
R6429:Olfr1205	UTSW	2	88831525	missense	probably benign	0.01
R6521:Olfr1205	UTSW	2	88831356	missense	probably benign	0.03
R7065:Olfr1205	UTSW	2	88831386	missense	probably damaging	1.00
R7343:Olfr1205	UTSW	2	88831846	missense	probably damaging	1.00
R7476:Olfr1205	UTSW	2	88831588	missense	probably benign	0.07
R8303:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8306:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8307:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8308:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8344:Olfr1205	UTSW	2	88831383	missense	probably benign	0.00
R8386:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8387:Olfr1205	UTSW	2	88831289	missense	possibly damaging	0.90
R8809:Olfr1205	UTSW	2	88831912	missense	probably benign	0.01
R8894:Olfr1205	UTSW	2	88831465	missense	probably benign	0.12
Z1176:Olfr1205	UTSW	2	88831578	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGTCTATTCAGTACGCATTAAAC -3'
(R):5'- GGCTGTGGACGTTGAAAAGC -3'

Sequencing Primer
(F):5'- TCAGTACGCATTAAACTGATACTTTC -3'
(R):5'- CTGTGGACGTTGAAAAGCAGGAATC -3'

Posted On

2019-10-17