Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Olfr311'

481325

Institutional Source

Beutler Lab

Gene Symbol

Olfr311

Ensembl Gene

ENSMUSG00000094805

Gene Name

olfactory receptor 311

Synonyms

MOR222-1, GA_x6K02T2NKPP-565870-564944

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58839251-58844111 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58841840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 242 (H242R)

Ref Sequence

ENSEMBL: ENSMUSP00000150870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071625] [ENSMUST00000216473]

AlphaFold

Q5NC59

Predicted Effect

probably damaging
Transcript: ENSMUST00000071625
AA Change: H242R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071553
Gene: ENSMUSG00000094805
AA Change: H242R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	9e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	215	1.7e-8	PFAM
Pfam:7tm_1	39	288	9.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214776

Predicted Effect

probably damaging
Transcript: ENSMUST00000216473
AA Change: H242R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1640

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543		probably null	Het
Coq10b	T	C	1: 55,052,918	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393		probably null	Het
Dhx35	G	T	2: 158,842,869	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283		probably null	Het
Dst	T	A	1: 34,160,372		probably benign	Het
Ehbp1	C	A	11: 22,151,887	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923		probably null	Het
Gprin1	G	A	13: 54,739,978	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274		probably null	Het
Mroh7	T	C	4: 106,720,926	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250		probably null	Het
Muc2	G	A	7: 141,751,406	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192	K90E	probably benign	Het
Olfr713	G	A	7: 107,036,336	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Ovch2	G	A	7: 107,794,388	T177I	possibly damaging	Het
Parn	A	C	16: 13,606,171	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759		probably benign	Het
Rgl1	A	G	1: 152,557,493	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463	N851K	probably benign	Het
Smox	G	A	2: 131,516,414	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040		probably benign	Het
Zfp213	C	A	17: 23,557,911	E386*	probably null	Het

Other mutations in Olfr311

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Olfr311	APN	11	58841512	missense	probably benign	0.10
H8786:Olfr311	UTSW	11	58841320	missense	probably benign	0.22
R0620:Olfr311	UTSW	11	58841443	missense	probably damaging	1.00
R0671:Olfr311	UTSW	11	58841855	missense	possibly damaging	0.94
R0827:Olfr311	UTSW	11	58841771	missense	probably damaging	1.00
R0839:Olfr311	UTSW	11	58841652	missense	probably benign
R0932:Olfr311	UTSW	11	58841714	missense	possibly damaging	0.92
R1117:Olfr311	UTSW	11	58841815	missense	possibly damaging	0.64
R1533:Olfr311	UTSW	11	58841966	missense	probably damaging	1.00
R1540:Olfr311	UTSW	11	58841651	missense	probably benign	0.01
R1595:Olfr311	UTSW	11	58841652	missense	probably benign
R1826:Olfr311	UTSW	11	58841431	missense	probably benign
R2857:Olfr311	UTSW	11	58841882	missense	probably benign	0.42
R2858:Olfr311	UTSW	11	58841882	missense	probably benign	0.42
R2859:Olfr311	UTSW	11	58841882	missense	probably benign	0.42
R3438:Olfr311	UTSW	11	58841872	nonsense	probably null
R3765:Olfr311	UTSW	11	58841294	missense	probably damaging	1.00
R3831:Olfr311	UTSW	11	58841860	missense	probably damaging	0.99
R4858:Olfr311	UTSW	11	58841207	missense	possibly damaging	0.86
R5651:Olfr311	UTSW	11	58841491	nonsense	probably null
R6316:Olfr311	UTSW	11	58841942	missense	probably damaging	1.00
R6717:Olfr311	UTSW	11	58841287	missense	probably damaging	1.00
R7163:Olfr311	UTSW	11	58841186	missense	probably benign	0.12
R7605:Olfr311	UTSW	11	58841500	missense	probably benign	0.00
R8328:Olfr311	UTSW	11	58841634	missense	probably benign	0.00
Z1186:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1186:Olfr311	UTSW	11	58841119	missense	probably benign
Z1186:Olfr311	UTSW	11	58841206	missense	probably benign
Z1186:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1186:Olfr311	UTSW	11	58841789	missense	probably benign
Z1187:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1187:Olfr311	UTSW	11	58841119	missense	probably benign
Z1187:Olfr311	UTSW	11	58841206	missense	probably benign
Z1187:Olfr311	UTSW	11	58841258	missense	probably benign
Z1187:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1187:Olfr311	UTSW	11	58841789	missense	probably benign
Z1188:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1188:Olfr311	UTSW	11	58841119	missense	probably benign
Z1188:Olfr311	UTSW	11	58841206	missense	probably benign
Z1188:Olfr311	UTSW	11	58841258	missense	probably benign
Z1188:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1188:Olfr311	UTSW	11	58841789	missense	probably benign
Z1189:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1189:Olfr311	UTSW	11	58841119	missense	probably benign
Z1189:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1189:Olfr311	UTSW	11	58841789	missense	probably benign
Z1190:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1190:Olfr311	UTSW	11	58841119	missense	probably benign
Z1190:Olfr311	UTSW	11	58841206	missense	probably benign
Z1190:Olfr311	UTSW	11	58841258	missense	probably benign
Z1190:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1190:Olfr311	UTSW	11	58841789	missense	probably benign
Z1191:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1191:Olfr311	UTSW	11	58841119	missense	probably benign
Z1191:Olfr311	UTSW	11	58841206	missense	probably benign
Z1191:Olfr311	UTSW	11	58841258	missense	probably benign
Z1191:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1191:Olfr311	UTSW	11	58841789	missense	probably benign
Z1192:Olfr311	UTSW	11	58841081	start gained	probably benign
Z1192:Olfr311	UTSW	11	58841119	missense	probably benign
Z1192:Olfr311	UTSW	11	58841206	missense	probably benign
Z1192:Olfr311	UTSW	11	58841743	missense	probably benign	0.16
Z1192:Olfr311	UTSW	11	58841789	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTGTCCTGCACTGATTACC -3'
(R):5'- CCACACACTGTAGGCTTCAATG -3'

Sequencing Primer
(F):5'- CTGCACTGATTACCATCTCAATGAGG -3'
(R):5'- CTCCCACAGTAAAGTTTCTGTAGAGC -3'

Posted On

2017-06-26