Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Or5p69'

180538

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5p69

Ensembl Gene

ENSMUSG00000109631

Gene Name

olfactory receptor family 5 subfamily P member 69

Synonyms

GA_x6K02T2PBJ9-10697517-10698461, MOR204-10, Olfr494

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

107966699-107967643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107967368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 224 (I224V)

Ref Sequence

ENSEMBL: ENSMUSP00000147830 (fasta)

Gene Model

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

AlphaFold

Q8VG07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073059
AA Change: I224V

PolyPhen 2 Score 0.820 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: I224V

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 damaging
Transcript: ENSMUST00000209743
AA Change: I224V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210291
AA Change: I224V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	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
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
R2162:Or5p69	UTSW	7	107,966,769 (GRCm39)	missense	probably benign	0.08
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

Posted On

2014-05-07