Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Or4c31'

632841

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

067575-MU

Accession Numbers

Essential gene?

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

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88291686-88292597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88292427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 267 (F267L)

Ref Sequence

ENSEMBL: ENSMUSP00000154094 (fasta)

Gene Model

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

AlphaFold

A0A2I3BQA3

Predicted Effect

probably benign
Transcript: ENSMUST00000102618
AA Change: F248L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: F248L

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

possibly damaging
Transcript: ENSMUST00000213115
AA Change: F267L

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000219871
AA Change: F248L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,562,876 (GRCm39)	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,184,949 (GRCm39)	I287N	probably damaging	Het
Aox1	T	A	1: 58,339,821 (GRCm39)	N371K	probably benign	Het
Atr	T	A	9: 95,781,113 (GRCm39)	F1392L	probably damaging	Het
Bicra	G	A	7: 15,722,395 (GRCm39)	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,569,188 (GRCm39)	R912Q	probably damaging	Het
Cdhr1	T	C	14: 36,801,609 (GRCm39)	N778S	probably benign	Het
Cert1	C	T	13: 96,679,736 (GRCm39)	P22L	probably benign	Het
Dgat2	C	T	7: 98,806,187 (GRCm39)	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,208,395 (GRCm39)	D937G	probably benign	Het
Dqx1	T	C	6: 83,037,222 (GRCm39)	V295A	probably benign	Het
Dsg3	A	G	18: 20,673,130 (GRCm39)	T934A	probably benign	Het
Fam81b	A	C	13: 76,383,140 (GRCm39)	V243G	probably damaging	Het
Gen1	A	T	12: 11,305,051 (GRCm39)		probably null	Het
Glrx3	G	A	7: 137,064,736 (GRCm39)	S275N	probably benign	Het
Igdcc4	A	T	9: 65,031,253 (GRCm39)	Q397L	probably benign	Het
Ints6	C	T	14: 62,951,186 (GRCm39)	G281D	probably damaging	Het
Kalrn	A	T	16: 33,875,414 (GRCm39)	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,111,829 (GRCm39)	D567G	probably damaging	Het
Macf1	A	G	4: 123,385,491 (GRCm39)	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,129,734 (GRCm39)	R434C	probably damaging	Het
Mia3	A	T	1: 183,109,062 (GRCm39)	F358I		Het
Ncapd3	C	T	9: 26,942,014 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,295,873 (GRCm39)	R156G	possibly damaging	Het
Nus1	T	C	10: 52,305,416 (GRCm39)		probably null	Het
Or2y14	C	T	11: 49,405,050 (GRCm39)	T195I	probably benign	Het
Or4a79	T	A	2: 89,552,186 (GRCm39)	I90F	probably damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Pafah1b2	A	G	9: 45,895,147 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,826,842 (GRCm39)	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,801,680 (GRCm39)	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,695,564 (GRCm39)	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,153,283 (GRCm39)	V293A	probably damaging	Het
Rpl18a	G	T	8: 71,348,069 (GRCm39)	T174N	probably damaging	Het
Senp5	A	T	16: 31,808,128 (GRCm39)	H375Q	probably benign	Het
Setbp1	A	T	18: 78,900,015 (GRCm39)	F1217L	probably damaging	Het
Skint4	A	G	4: 111,993,218 (GRCm39)	I314V	probably benign	Het
Slc28a2	A	G	2: 122,288,682 (GRCm39)	D596G	probably benign	Het
Stat5b	A	G	11: 100,688,607 (GRCm39)	I285T	probably benign	Het
Sycp3	T	C	10: 88,298,467 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,770,718 (GRCm39)	F270L	probably damaging	Het
Taar5	T	C	10: 23,846,749 (GRCm39)	V49A	probably damaging	Het
Tbx18	C	T	9: 87,606,411 (GRCm39)	V245I	probably damaging	Het
Tet1	A	G	10: 62,714,586 (GRCm39)	M403T	probably benign	Het
Tmprss11f	A	T	5: 86,677,769 (GRCm39)	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,213 (GRCm39)	I46V	probably benign	Het
Traf5	G	T	1: 191,746,984 (GRCm39)	N112K	probably damaging	Het
Trim12c	A	T	7: 103,991,165 (GRCm39)	M263K	unknown	Het
Trim55	A	G	3: 19,727,011 (GRCm39)	I359M	probably benign	Het
Utp20	A	T	10: 88,594,306 (GRCm39)	W2140R	probably benign	Het
Vgll3	T	C	16: 65,624,964 (GRCm39)	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,605,227 (GRCm39)	G474*	probably null	Het
Vps18	G	A	2: 119,123,237 (GRCm39)	A98T	probably benign	Het
Zfand4	T	A	6: 116,291,169 (GRCm39)	S387T	probably damaging	Het
Zfp808	A	G	13: 62,320,934 (GRCm39)	Y721C	probably damaging	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
R7469:Or4c31	UTSW	2	88,291,691 (GRCm39)	missense	probably benign
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
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'- GAAACTTGCCTGCATGGATAC -3'
(R):5'- TAACGGCTCCAGATTCTTTTGGG -3'

Sequencing Primer
(F):5'- GAAACTTGCCTGCATGGATACCTATG -3'
(R):5'- GGGTACACCTGAAGTCATACTTTACC -3'

Posted On

2020-06-30