Mutagenetix > Incidental Mutation

Incidental Mutation 'R2162:Or5p69'

235209

Institutional Source

Beutler Lab

Gene Symbol

Or5p69

Ensembl Gene

ENSMUSG00000109631

Gene Name

olfactory receptor family 5 subfamily P member 69

Synonyms

GA_x6K02T2PBJ9-10697517-10698461, MOR204-10, Olfr494

MMRRC Submission

040165-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R2162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107966699-107967643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107966769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 24 (P24Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073059] [ENSMUST00000209743] [ENSMUST00000210291]

AlphaFold

Q8VG07

Predicted Effect

probably benign
Transcript: ENSMUST00000073059
AA Change: P24Q

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: P24Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209743
AA Change: P24Q

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000210291
AA Change: P24Q

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.6180

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Ankrd28	T	C	14: 31,430,719 (GRCm39)	D850G	probably damaging	Het
Arhgap45	T	C	10: 79,852,813 (GRCm39)	M1T	probably null	Het
Atp6v0a4	T	G	6: 38,065,581 (GRCm39)	K128N	possibly damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Clca4b	T	C	3: 144,634,348 (GRCm39)	I82V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Eng	C	T	2: 32,569,059 (GRCm39)	R528C	probably damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Hlx	T	A	1: 184,462,889 (GRCm39)		probably null	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Il36rn	G	T	2: 24,169,692 (GRCm39)	L17F	probably damaging	Het
Itga1	C	T	13: 115,167,446 (GRCm39)	V157I	probably benign	Het
Krtap19-3	T	G	16: 88,674,607 (GRCm39)	*88C	probably null	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh7	G	C	4: 106,557,378 (GRCm39)	S777R	probably damaging	Het
Nrxn1	G	A	17: 90,469,859 (GRCm39)	R35C	probably damaging	Het
Or12e10	T	A	2: 87,640,704 (GRCm39)	I180K	probably damaging	Het
Or51v8	T	G	7: 103,320,079 (GRCm39)	Q53P	possibly damaging	Het
Pacs2	A	G	12: 113,014,567 (GRCm39)	T243A	probably benign	Het
Pan2	A	G	10: 128,140,091 (GRCm39)	E4G	possibly damaging	Het
Pdp1	A	G	4: 11,961,123 (GRCm39)	V396A	probably damaging	Het
Pdzd7	A	G	19: 45,024,494 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,755,914 (GRCm39)		probably benign	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r9b	T	C	11: 94,888,877 (GRCm39)	L97P	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scn9a	T	A	2: 66,364,573 (GRCm39)	Y789F	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Spata31g1	A	G	4: 42,972,238 (GRCm39)	T524A	possibly damaging	Het
Sptan1	T	C	2: 29,908,588 (GRCm39)		probably benign	Het
Srrd	G	T	5: 112,490,810 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Usp43	A	G	11: 67,770,795 (GRCm39)	L613P	probably damaging	Het
Vmn1r167	T	C	7: 23,204,224 (GRCm39)	D264G	possibly damaging	Het
Whamm	A	G	7: 81,221,089 (GRCm39)	D7G	probably damaging	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp280d	T	A	9: 72,206,104 (GRCm39)	I62K	probably damaging	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zfp516	A	G	18: 83,005,063 (GRCm39)	R656G	possibly damaging	Het

Other mutations in Or5p69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Or5p69	APN	7	107,967,525 (GRCm39)	missense	probably damaging	1.00
IGL01934:Or5p69	APN	7	107,967,368 (GRCm39)	missense	probably damaging	0.99
IGL02041:Or5p69	APN	7	107,966,742 (GRCm39)	missense	probably damaging	1.00
IGL02253:Or5p69	APN	7	107,967,261 (GRCm39)	missense	possibly damaging	0.80
IGL02902:Or5p69	APN	7	107,967,336 (GRCm39)	missense	probably damaging	1.00
R0125:Or5p69	UTSW	7	107,967,576 (GRCm39)	missense	probably damaging	0.98
R0523:Or5p69	UTSW	7	107,967,438 (GRCm39)	missense	probably damaging	1.00
R0650:Or5p69	UTSW	7	107,966,996 (GRCm39)	missense	probably damaging	1.00
R1268:Or5p69	UTSW	7	107,967,002 (GRCm39)	missense	probably benign	0.06
R2036:Or5p69	UTSW	7	107,966,947 (GRCm39)	missense	probably benign	0.00
R2278:Or5p69	UTSW	7	107,967,288 (GRCm39)	missense	probably benign	0.01
R2368:Or5p69	UTSW	7	107,967,576 (GRCm39)	missense	probably damaging	0.98
R3410:Or5p69	UTSW	7	107,967,551 (GRCm39)	missense	possibly damaging	0.52
R3411:Or5p69	UTSW	7	107,967,551 (GRCm39)	missense	possibly damaging	0.52
R3834:Or5p69	UTSW	7	107,967,279 (GRCm39)	missense	probably damaging	0.98
R4322:Or5p69	UTSW	7	107,967,555 (GRCm39)	missense	probably damaging	1.00
R4625:Or5p69	UTSW	7	107,966,895 (GRCm39)	missense	probably damaging	0.98
R4724:Or5p69	UTSW	7	107,967,205 (GRCm39)	missense	probably benign
R4843:Or5p69	UTSW	7	107,967,350 (GRCm39)	missense	probably benign	0.01
R5525:Or5p69	UTSW	7	107,967,206 (GRCm39)	missense	probably benign
R5954:Or5p69	UTSW	7	107,966,808 (GRCm39)	missense	probably damaging	0.98
R7027:Or5p69	UTSW	7	107,967,557 (GRCm39)	missense	probably damaging	0.98
R8041:Or5p69	UTSW	7	107,966,741 (GRCm39)	missense	probably damaging	1.00
R8237:Or5p69	UTSW	7	107,967,234 (GRCm39)	missense	probably damaging	1.00
R9566:Or5p69	UTSW	7	107,966,783 (GRCm39)	missense	probably benign	0.01
Z1177:Or5p69	UTSW	7	107,967,468 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCGCTCAGTGTCTGTATG -3'
(R):5'- GCAGCTAAGCCAAACTGAATAG -3'

Sequencing Primer
(F):5'- GCAGCAGCTACATTATCC -3'
(R):5'- TTGCTTTACGAGGAAGTTGACAAGC -3'

Posted On

2014-10-01