Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Olfr311'

644210

Institutional Source

Beutler Lab

Gene Symbol

Olfr311

Ensembl Gene

ENSMUSG00000094805

Gene Name

olfactory receptor 311

Synonyms

MOR222-1, GA_x6K02T2NKPP-565870-564944

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58839251-58844111 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58841634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000150870 (fasta)

Gene Model

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

AlphaFold

Q5NC59

Predicted Effect

probably benign
Transcript: ENSMUST00000071625
AA Change: D173E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071553
Gene: ENSMUSG00000094805
AA Change: D173E

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

probably benign
Transcript: ENSMUST00000216473
AA Change: D173E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Gm13084	A	G	4: 143,810,810	L317P	probably damaging	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	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
R5979:Olfr311	UTSW	11	58841840	missense	probably damaging	1.00
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
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'- GTACTGAATGCTTTCTGCTCACG -3'
(R):5'- GAGCAGGTAGAAAAGGCTTTCC -3'

Sequencing Primer
(F):5'- TCACGGCCATGGCTTATGAC -3'
(R):5'- GTAGAAAAGGCTTTCCACCTGC -3'

Posted On

2020-09-02