Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Or5p51'

58810

Institutional Source

Beutler Lab

Gene Symbol

Or5p51

Ensembl Gene

ENSMUSG00000109542

Gene Name

olfactory receptor family 5 subfamily P member 51

Synonyms

MOR204-22, Olfr470, GA_x6K02T2PBJ9-10175273-10174329

MMRRC Submission

038813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107443994-107444938 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107444323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 206 (S206P)

Ref Sequence

ENSEMBL: ENSMUSP00000151543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073059] [ENSMUST00000220193]

AlphaFold

Q8VF65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073059
AA Change: S206P

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: S206P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2e-56	PFAM
Pfam:7tm_1	44	293	2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084757
AA Change: S206P

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081812
Gene: ENSMUSG00000094289
AA Change: S206P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.5e-51	PFAM
Pfam:7tm_1	44	293	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219309

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220193
AA Change: S206P

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.3727

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,446 (GRCm39)	D767V	probably damaging	Het
Add1	T	A	5: 34,763,197 (GRCm39)	N128K	probably damaging	Het
Ado	A	T	10: 67,384,058 (GRCm39)	D182E	probably benign	Het
Anapc4	T	A	5: 53,002,761 (GRCm39)		probably benign	Het
Ano10	A	G	9: 122,088,661 (GRCm39)		probably benign	Het
Apba2	A	G	7: 64,364,263 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,417 (GRCm39)	T1795A	probably benign	Het
Atp4a	A	G	7: 30,418,424 (GRCm39)	N571D	probably benign	Het
Birc6	A	G	17: 74,887,344 (GRCm39)	N891D	probably benign	Het
Bltp2	G	A	11: 78,159,283 (GRCm39)	E494K	probably damaging	Het
Car3	G	T	3: 14,931,864 (GRCm39)	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,887,371 (GRCm39)	H1267L	probably benign	Het
Cdk18	A	G	1: 132,046,610 (GRCm39)	L192P	probably damaging	Het
Cdk9	A	T	2: 32,599,836 (GRCm39)	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,448,888 (GRCm39)	T85S	probably benign	Het
Cenpe	A	G	3: 134,952,347 (GRCm39)	T1403A	probably benign	Het
Chd8	C	T	14: 52,457,214 (GRCm39)	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,304,098 (GRCm39)		probably benign	Het
Dctpp1	A	T	7: 126,856,365 (GRCm39)	I119N	probably damaging	Het
Defb34	T	A	8: 19,173,784 (GRCm39)	F6Y	unknown	Het
Dnai4	T	C	4: 102,930,054 (GRCm39)		probably benign	Het
Dvl1	C	G	4: 155,939,232 (GRCm39)	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,618,181 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,211,910 (GRCm39)	D199G	probably damaging	Het
Eml5	T	A	12: 98,831,738 (GRCm39)	R407W	probably damaging	Het
Epb41l5	T	C	1: 119,551,688 (GRCm39)	D99G	probably damaging	Het
Fat1	A	T	8: 45,504,205 (GRCm39)	N4566I	possibly damaging	Het
Gm21834	T	C	17: 58,049,015 (GRCm39)	E67G	possibly damaging	Het
Gsap	T	A	5: 21,458,949 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,715,923 (GRCm39)	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,526,720 (GRCm39)	D242G	probably damaging	Het
Kcna7	A	G	7: 45,059,114 (GRCm39)	D467G	probably null	Het
Lars1	A	G	18: 42,375,849 (GRCm39)		probably benign	Het
Lrrc56	A	T	7: 140,786,366 (GRCm39)	D248V	probably damaging	Het
Map3k14	T	A	11: 103,133,117 (GRCm39)	E27V	possibly damaging	Het
Med12l	G	A	3: 58,945,123 (GRCm39)	W116*	probably null	Het
Mgll	A	G	6: 88,702,799 (GRCm39)	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221 (GRCm39)	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,607,444 (GRCm39)	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,396,117 (GRCm39)	L13P	unknown	Het
Ocstamp	A	G	2: 165,239,772 (GRCm39)	V138A	probably damaging	Het
Or12e8	T	G	2: 87,188,026 (GRCm39)	Y79*	probably null	Het
Or2z8	T	A	8: 72,812,006 (GRCm39)	S161T	possibly damaging	Het
Or4a68	A	G	2: 89,270,482 (GRCm39)	V47A	possibly damaging	Het
Or4f7	T	C	2: 111,645,056 (GRCm39)	N5S	probably damaging	Het
Or9i1b	T	G	19: 13,896,808 (GRCm39)	C141W	probably damaging	Het
Patj	T	C	4: 98,569,472 (GRCm39)		probably benign	Het
Pcdhb22	A	G	18: 37,651,780 (GRCm39)	I83V	probably benign	Het
Pclo	A	G	5: 14,719,670 (GRCm39)	E1269G	unknown	Het
Plagl2	T	C	2: 153,077,973 (GRCm39)	T3A	probably benign	Het
Plcb1	C	T	2: 135,136,831 (GRCm39)	P309S	possibly damaging	Het
Pld3	A	T	7: 27,239,000 (GRCm39)	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,075,974 (GRCm39)		probably benign	Het
Psap	T	G	10: 60,135,345 (GRCm39)		probably benign	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Reep2	A	T	18: 34,973,824 (GRCm39)	I6F	probably benign	Het
Rraga	A	G	4: 86,494,454 (GRCm39)	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,889 (GRCm39)	D37G	probably benign	Het
Rtl1	T	C	12: 109,559,153 (GRCm39)	I895M	probably damaging	Het
Ryr1	G	A	7: 28,774,034 (GRCm39)	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,186,532 (GRCm39)	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Shf	C	A	2: 122,199,116 (GRCm39)		probably benign	Het
Sipa1l3	T	C	7: 29,086,676 (GRCm39)	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,253,807 (GRCm39)	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,234,215 (GRCm39)	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059 (GRCm38)		probably null	Het
Slc7a2	T	A	8: 41,361,568 (GRCm39)	S414T	probably benign	Het
Slc9c1	A	G	16: 45,393,719 (GRCm39)	E554G	probably benign	Het
Smad2	T	C	18: 76,433,064 (GRCm39)	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,256,451 (GRCm39)	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,222,777 (GRCm39)	I154N	probably damaging	Het
Sort1	G	A	3: 108,255,946 (GRCm39)	G631S	probably damaging	Het
Sox10	T	C	15: 79,043,586 (GRCm39)	D149G	possibly damaging	Het
Spn	C	T	7: 126,735,380 (GRCm39)	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,179,239 (GRCm39)	D9G	probably damaging	Het
Tapt1	T	G	5: 44,334,448 (GRCm39)	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,249,168 (GRCm39)	L480P	probably damaging	Het
Tenm4	G	C	7: 96,423,227 (GRCm39)	G637A	probably damaging	Het
Tex14	T	A	11: 87,411,525 (GRCm39)	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,098,289 (GRCm39)	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,110,986 (GRCm39)	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,902,522 (GRCm39)	H1002P	probably damaging	Het
Ttn	A	G	2: 76,593,571 (GRCm39)		probably benign	Het
Ugt2b34	C	G	5: 87,041,591 (GRCm39)		probably null	Het
Vldlr	A	G	19: 27,215,663 (GRCm39)	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,121 (GRCm39)	Y144*	probably null	Het
Xrcc4	T	C	13: 90,140,594 (GRCm39)	E205G	possibly damaging	Het

Other mutations in Or5p51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:Or5p51	APN	7	107,444,385 (GRCm39)	missense	probably benign	0.00
IGL02349:Or5p51	APN	7	107,444,812 (GRCm39)	missense	probably benign	0.03
IGL02365:Or5p51	APN	7	107,444,119 (GRCm39)	missense	probably damaging	1.00
R0070:Or5p51	UTSW	7	107,444,124 (GRCm39)	missense	probably damaging	0.99
R0540:Or5p51	UTSW	7	107,444,776 (GRCm39)	missense	probably damaging	0.98
R0607:Or5p51	UTSW	7	107,444,776 (GRCm39)	missense	probably damaging	0.98
R1983:Or5p51	UTSW	7	107,444,619 (GRCm39)	missense	probably benign	0.36
R2420:Or5p51	UTSW	7	107,444,025 (GRCm39)	missense	probably benign	0.03
R2441:Or5p51	UTSW	7	107,444,185 (GRCm39)	missense	probably benign	0.10
R4395:Or5p51	UTSW	7	107,444,469 (GRCm39)	missense	probably damaging	1.00
R4734:Or5p51	UTSW	7	107,444,635 (GRCm39)	missense	probably benign	0.00
R4779:Or5p51	UTSW	7	107,444,755 (GRCm39)	missense	possibly damaging	0.96
R5874:Or5p51	UTSW	7	107,444,377 (GRCm39)	missense	probably benign
R6598:Or5p51	UTSW	7	107,444,470 (GRCm39)	missense	probably benign	0.06
R6807:Or5p51	UTSW	7	107,444,797 (GRCm39)	missense	possibly damaging	0.67
R6820:Or5p51	UTSW	7	107,444,298 (GRCm39)	missense	probably benign	0.01
R7305:Or5p51	UTSW	7	107,444,572 (GRCm39)	missense	probably damaging	1.00
R7413:Or5p51	UTSW	7	107,444,721 (GRCm39)	missense	probably damaging	1.00
R7954:Or5p51	UTSW	7	107,444,119 (GRCm39)	missense	probably benign	0.01
R8215:Or5p51	UTSW	7	107,444,124 (GRCm39)	missense	probably damaging	0.99
R8255:Or5p51	UTSW	7	107,444,368 (GRCm39)	missense	probably damaging	1.00
R8384:Or5p51	UTSW	7	107,444,465 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACAGACACCACCTTGTTCTGGTCC -3'
(R):5'- CCAAAATGCTTGCCAACTTCCTGC -3'

Sequencing Primer
(F):5'- TGGATTTGGGCATCACATAAATG -3'
(R):5'- ACACAAGTCTGTATCCAGTTGC -3'

Posted On

2013-07-11