Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Or4c31'

579006

Institutional Source

Beutler Lab

Gene Symbol

Or4c31

Ensembl Gene

ENSMUSG00000049372

Gene Name

olfactory receptor family 4 subfamily C member 31

Synonyms

MOR230-6, GA_x6K02T2Q125-49948903-49949814, Olfr1183

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88291686-88292597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88291691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 2 (H2Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102618] [ENSMUST00000213115] [ENSMUST00000219871]

AlphaFold

A0A2I3BQA3

Predicted Effect

probably benign
Transcript: ENSMUST00000102618
AA Change: H2Q

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

SMART Domains

Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: H2Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.1e-47	PFAM
Pfam:7TM_GPCR_Srsx	32	299	1.8e-5	PFAM
Pfam:7tm_1	38	284	1.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213115

Predicted Effect

probably benign
Transcript: ENSMUST00000219871
AA Change: H2Q

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

Coding Region Coverage

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

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Abtb2	T	C	2: 103,397,292 (GRCm39)	V74A	probably benign	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Ankrd50	C	A	3: 38,508,342 (GRCm39)	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,375,763 (GRCm39)	T77M	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gimap6	T	A	6: 48,679,392 (GRCm39)	T215S	probably benign	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,835,436 (GRCm39)	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	Het

Other mutations in Or4c31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Or4c31	APN	2	88,291,696 (GRCm39)	missense	probably benign
IGL01150:Or4c31	APN	2	88,292,419 (GRCm39)	missense	possibly damaging	0.93
IGL02894:Or4c31	APN	2	88,292,070 (GRCm39)	missense	probably damaging	1.00
R0382:Or4c31	UTSW	2	88,292,069 (GRCm39)	missense	possibly damaging	0.87
R0401:Or4c31	UTSW	2	88,292,269 (GRCm39)	missense	probably damaging	1.00
R0664:Or4c31	UTSW	2	88,292,515 (GRCm39)	missense	probably damaging	1.00
R1990:Or4c31	UTSW	2	88,291,686 (GRCm39)	start codon destroyed	probably null
R3122:Or4c31	UTSW	2	88,291,853 (GRCm39)	missense	probably damaging	0.99
R4596:Or4c31	UTSW	2	88,292,538 (GRCm39)	missense	probably benign	0.28
R7361:Or4c31	UTSW	2	88,291,836 (GRCm39)	missense	probably benign	0.28
R7858:Or4c31	UTSW	2	88,292,056 (GRCm39)	missense	probably damaging	1.00
R8023:Or4c31	UTSW	2	88,292,022 (GRCm39)	missense	probably benign	0.04
R8147:Or4c31	UTSW	2	88,292,427 (GRCm39)	missense	possibly damaging	0.93
R9026:Or4c31	UTSW	2	88,292,196 (GRCm39)	missense	probably damaging	1.00
R9103:Or4c31	UTSW	2	88,291,942 (GRCm39)	missense	probably benign	0.02
Z1176:Or4c31	UTSW	2	88,292,458 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTTTATACCTTCCAAACACAC -3'
(R):5'- TTGTAGAGAAGCAAGCATCAGC -3'

Sequencing Primer
(F):5'- TCAAGTTCAGTTAGCTTCATGTTG -3'
(R):5'- GCATCAGCGAAAGACAAATAGAAG -3'

Posted On

2019-10-07