Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Or5p57'

204032

Institutional Source

Beutler Lab

Gene Symbol

Or5p57

Ensembl Gene

ENSMUSG00000063120

Gene Name

olfactory receptor family 5 subfamily P member 57

Synonyms

MOR204-32, GA_x6K02T2PBJ9-10395807-10394869, Olfr480

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107664975-107666002 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 107665932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 24 (Y24*)

Ref Sequence

ENSEMBL: ENSMUSP00000071583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071658] [ENSMUST00000217653]

AlphaFold

Q8VEZ0

Predicted Effect

probably null
Transcript: ENSMUST00000071658
AA Change: Y24*

SMART Domains

Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: Y24*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	61	338	1.7e-50	PFAM
Pfam:7tm_1	71	320	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217653

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Etfbkmt	T	A	6: 149,045,649 (GRCm39)	M1K	probably null	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm39)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,458,061 (GRCm39)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vit	A	G	17: 78,930,175 (GRCm39)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 9,907,333 (GRCm39)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	Het

Other mutations in Or5p57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Or5p57	APN	7	107,665,495 (GRCm39)	missense	probably benign	0.32
IGL02060:Or5p57	APN	7	107,665,878 (GRCm39)	missense	probably benign	0.03
IGL02392:Or5p57	APN	7	107,665,710 (GRCm39)	missense	probably benign	0.10
IGL02493:Or5p57	APN	7	107,665,012 (GRCm39)	missense	possibly damaging	0.79
IGL02634:Or5p57	APN	7	107,665,978 (GRCm39)	missense	probably benign	0.00
F5770:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
R0446:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1070:Or5p57	UTSW	7	107,665,858 (GRCm39)	missense	probably benign	0.00
R1510:Or5p57	UTSW	7	107,665,735 (GRCm39)	missense	probably damaging	1.00
R1863:Or5p57	UTSW	7	107,665,932 (GRCm39)	nonsense	probably null
R1885:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1886:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R1887:Or5p57	UTSW	7	107,665,985 (GRCm39)	missense	probably benign	0.00
R3609:Or5p57	UTSW	7	107,665,576 (GRCm39)	missense	probably damaging	1.00
R3921:Or5p57	UTSW	7	107,665,108 (GRCm39)	missense	possibly damaging	0.94
R4259:Or5p57	UTSW	7	107,665,100 (GRCm39)	nonsense	probably null
R5276:Or5p57	UTSW	7	107,665,423 (GRCm39)	nonsense	probably null
R6224:Or5p57	UTSW	7	107,665,949 (GRCm39)	missense	probably benign	0.00
R8059:Or5p57	UTSW	7	107,665,223 (GRCm39)	missense	probably benign	0.01
R8229:Or5p57	UTSW	7	107,665,794 (GRCm39)	missense	probably benign	0.01
R8271:Or5p57	UTSW	7	107,664,980 (GRCm39)	missense	probably damaging	0.99
R8926:Or5p57	UTSW	7	107,665,513 (GRCm39)	missense	probably benign	0.06
R9176:Or5p57	UTSW	7	107,665,246 (GRCm39)	missense	probably benign	0.05
V7581:Or5p57	UTSW	7	107,665,885 (GRCm39)	missense	probably benign	0.11
X0021:Or5p57	UTSW	7	107,665,795 (GRCm39)	missense	probably benign	0.01
X0066:Or5p57	UTSW	7	107,665,642 (GRCm39)	missense	probably benign	0.00
Z1088:Or5p57	UTSW	7	107,665,534 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGGCTGGTTCTGATTAGCAC -3'
(R):5'- TCAGTAGATCTCTATTGCTCACTG -3'

Sequencing Primer
(F):5'- GCTGGTTCTGATTAGCACAATTATG -3'
(R):5'- TGCTCACTGAAATATAAACTAGCAAC -3'

Posted On

2014-06-23