Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Or5p60'

175495

Institutional Source

Beutler Lab

Gene Symbol

Or5p60

Ensembl Gene

ENSMUSG00000110171

Gene Name

olfactory receptor family 5 subfamily P member 60

Synonyms

GA_x6K02T2PBJ9-10454128-10453163, MOR204-16, Olfr484

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107723503-107724468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107723571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 300 (I300F)

Ref Sequence

ENSEMBL: ENSMUSP00000150774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210881] [ENSMUST00000214722]

AlphaFold

Q8VFD3

Predicted Effect

probably benign
Transcript: ENSMUST00000073580
AA Change: I300F

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073267
Gene: ENSMUSG00000059996
AA Change: I300F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	2.5e-53	PFAM
Pfam:7tm_1	44	293	4.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157612

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210881
AA Change: I300F

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214722
AA Change: I300F

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.6598

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,957,505 (GRCm39)	Q201K	probably benign	Het
Acacb	A	T	5: 114,341,484 (GRCm39)	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,091,905 (GRCm39)	V62L	probably benign	Het
Adam6b	A	T	12: 113,453,452 (GRCm39)	I90F	probably benign	Het
Adgrf1	T	C	17: 43,621,872 (GRCm39)	L703P	probably damaging	Het
Arf3	T	C	15: 98,640,669 (GRCm39)		probably benign	Het
Asns	T	C	6: 7,678,007 (GRCm39)	D357G	probably damaging	Het
Atr	T	C	9: 95,827,438 (GRCm39)	M2461T	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Bod1l	T	C	5: 41,976,563 (GRCm39)	I1584V	probably benign	Het
Bub3	T	C	7: 131,163,337 (GRCm39)		probably null	Het
Camkk2	A	G	5: 122,895,621 (GRCm39)		probably null	Het
Cand1	G	T	10: 119,047,774 (GRCm39)	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,774,606 (GRCm39)	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,873,799 (GRCm39)	T452A	probably benign	Het
Cdh4	T	C	2: 179,528,657 (GRCm39)		probably null	Het
Cfap61	A	G	2: 145,987,378 (GRCm39)	R1060G	probably benign	Het
Chd9	A	G	8: 91,710,166 (GRCm39)	D314G	probably damaging	Het
Cplx3	C	T	9: 57,523,085 (GRCm39)	V125I	probably benign	Het
Csmd1	T	A	8: 15,950,710 (GRCm39)	I3500F	probably damaging	Het
Dnah1	G	T	14: 30,994,289 (GRCm39)	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,053,583 (GRCm39)	E2884K	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Exosc10	T	A	4: 148,652,840 (GRCm39)	I485N	probably benign	Het
Fap	T	C	2: 62,384,201 (GRCm39)	K2E	probably damaging	Het
Fgfr1	G	A	8: 26,062,736 (GRCm39)	G671D	probably damaging	Het
Fzr1	C	T	10: 81,206,201 (GRCm39)	R162Q	possibly damaging	Het
Grap2	A	T	15: 80,532,649 (GRCm39)	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200 (GRCm39)	W246R	probably damaging	Het
Kcna3	A	T	3: 106,944,345 (GRCm39)	I203F	probably damaging	Het
Kcng1	T	C	2: 168,110,630 (GRCm39)	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,680,057 (GRCm39)	H798P	probably benign	Het
Kif21b	T	C	1: 136,077,055 (GRCm39)	L359P	probably damaging	Het
Krt6a	A	T	15: 101,600,792 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrp3	A	G	7: 34,901,790 (GRCm39)	V676A	probably benign	Het
Lrrc63	T	A	14: 75,363,332 (GRCm39)	K266N	possibly damaging	Het
Mccc1	C	T	3: 36,044,006 (GRCm39)	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092 (GRCm39)	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,921,755 (GRCm39)	R71*	probably null	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Ogdh	T	C	11: 6,299,384 (GRCm39)	F750S	probably damaging	Het
Or1ak2	C	A	2: 36,827,990 (GRCm39)	N286K	probably damaging	Het
Or51aa2	T	G	7: 103,188,274 (GRCm39)	T56P	probably benign	Het
Or8b3	A	G	9: 38,314,232 (GRCm39)	T18A	probably damaging	Het
Or8b42	A	T	9: 38,341,707 (GRCm39)	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,030,353 (GRCm39)	I194L	probably benign	Het
Pacsin2	T	C	15: 83,269,252 (GRCm39)	E14G	probably damaging	Het
Pate7	T	C	9: 35,687,952 (GRCm39)	D96G	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,618,878 (GRCm39)	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,693,904 (GRCm39)	R109K	probably benign	Het
Ppp2ca	T	C	11: 51,989,916 (GRCm39)	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,258,278 (GRCm39)	T102S	probably damaging	Het
Rsf1	T	A	7: 97,288,520 (GRCm39)	C132*	probably null	Het
Rufy1	G	A	11: 50,285,755 (GRCm39)	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,074,135 (GRCm39)	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,145,819 (GRCm39)	E172G	probably damaging	Het
Skint5	C	T	4: 113,856,651 (GRCm39)		probably null	Het
Slc25a27	A	G	17: 43,964,315 (GRCm39)	I185T	probably benign	Het
Slc41a3	A	C	6: 90,610,677 (GRCm39)	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,291,598 (GRCm39)	F227V	probably damaging	Het
Smg1	T	C	7: 117,756,142 (GRCm39)		probably benign	Het
St6galnac1	A	T	11: 116,656,689 (GRCm39)	D483E	probably damaging	Het
Tes	A	G	6: 17,097,441 (GRCm39)	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471 (GRCm39)	D290Y	probably damaging	Het
Tifab	T	A	13: 56,324,164 (GRCm39)	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,848,196 (GRCm39)		probably null	Het
Tnfrsf21	T	A	17: 43,396,265 (GRCm39)	S516R	probably benign	Het
Ttn	T	C	2: 76,606,389 (GRCm39)	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747 (GRCm39)	S3692T	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfp113	T	C	5: 138,149,459 (GRCm39)		probably benign	Het
Zfp26	T	C	9: 20,348,921 (GRCm39)	T548A	probably benign	Het
Zfp870	C	T	17: 33,102,990 (GRCm39)	G114D	probably damaging	Het

Other mutations in Or5p60

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Or5p60	APN	7	107,724,371 (GRCm39)	missense	possibly damaging	0.88
IGL01899:Or5p60	APN	7	107,724,048 (GRCm39)	missense	probably benign	0.01
IGL02124:Or5p60	APN	7	107,724,249 (GRCm39)	missense	probably benign	0.01
IGL02622:Or5p60	APN	7	107,723,595 (GRCm39)	missense	probably damaging	1.00
IGL03188:Or5p60	APN	7	107,723,841 (GRCm39)	missense	probably benign	0.00
R0389:Or5p60	UTSW	7	107,724,023 (GRCm39)	missense	probably benign	0.00
R0443:Or5p60	UTSW	7	107,724,023 (GRCm39)	missense	probably benign	0.00
R0731:Or5p60	UTSW	7	107,723,941 (GRCm39)	missense	probably benign	0.12
R1061:Or5p60	UTSW	7	107,723,663 (GRCm39)	missense	probably damaging	1.00
R1505:Or5p60	UTSW	7	107,724,200 (GRCm39)	missense	probably benign	0.00
R1789:Or5p60	UTSW	7	107,724,122 (GRCm39)	missense	probably benign	0.44
R2988:Or5p60	UTSW	7	107,724,045 (GRCm39)	nonsense	probably null
R4778:Or5p60	UTSW	7	107,723,687 (GRCm39)	missense	possibly damaging	0.95
R5288:Or5p60	UTSW	7	107,724,375 (GRCm39)	missense	probably benign	0.00
R5644:Or5p60	UTSW	7	107,723,858 (GRCm39)	missense	probably benign	0.04
R6112:Or5p60	UTSW	7	107,724,369 (GRCm39)	missense	probably benign	0.01
R6351:Or5p60	UTSW	7	107,723,637 (GRCm39)	missense	probably damaging	1.00
R6934:Or5p60	UTSW	7	107,724,026 (GRCm39)	missense	probably benign	0.14
R7094:Or5p60	UTSW	7	107,723,840 (GRCm39)	missense	probably benign	0.35
R7135:Or5p60	UTSW	7	107,723,781 (GRCm39)	missense	probably damaging	0.99
R7422:Or5p60	UTSW	7	107,724,068 (GRCm39)	missense	probably damaging	1.00
R7660:Or5p60	UTSW	7	107,724,041 (GRCm39)	missense	probably benign	0.04
R7916:Or5p60	UTSW	7	107,724,329 (GRCm39)	missense	possibly damaging	0.59
R8489:Or5p60	UTSW	7	107,724,372 (GRCm39)	missense	probably benign	0.03
R9204:Or5p60	UTSW	7	107,723,935 (GRCm39)	missense	possibly damaging	0.75
R9526:Or5p60	UTSW	7	107,723,801 (GRCm39)	missense	probably benign	0.06
X0021:Or5p60	UTSW	7	107,724,314 (GRCm39)	missense	probably damaging	1.00
X0025:Or5p60	UTSW	7	107,723,606 (GRCm39)	nonsense	probably null
Z1176:Or5p60	UTSW	7	107,724,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGATAGCTACGAATACTGGGAGT -3'
(R):5'- CATCACCATCCTGAAGATGCGCT -3'

Sequencing Primer
(F):5'- CTACGAATACTGGGAGTACAGG -3'
(R):5'- TGAAGATGCGCTCCACTGAG -3'

Posted On

2014-04-24