Mutagenetix > Incidental Mutation

Incidental Mutation 'R6112:Or5p60'

484905

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

044261-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R6112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107723503-107724468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107724369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 34 (I34F)

Ref Sequence

ENSEMBL: ENSMUSP00000150774 (fasta)

Gene Model

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

AlphaFold

Q8VFD3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157612

Predicted Effect

probably benign
Transcript: ENSMUST00000210881
AA Change: I34F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000214722
AA Change: I34F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,278,780 (GRCm39)	Y1030C	probably damaging	Het
Adh5	G	T	3: 138,157,029 (GRCm39)	V197F	probably damaging	Het
Ankmy1	A	T	1: 92,798,684 (GRCm39)	F936I	probably damaging	Het
Aoc1	A	T	6: 48,885,625 (GRCm39)	D710V	probably damaging	Het
Aplp1	T	C	7: 30,134,902 (GRCm39)	E622G	probably damaging	Het
Arhgap20	T	C	9: 51,740,684 (GRCm39)	Y219H	probably damaging	Het
Bag3	A	G	7: 128,143,556 (GRCm39)	D184G	probably damaging	Het
Cacna1g	C	T	11: 94,300,072 (GRCm39)	A2216T	probably damaging	Het
Cbarp	T	C	10: 79,971,205 (GRCm39)		probably null	Het
Cep250	C	A	2: 155,836,503 (GRCm39)	L2211I	possibly damaging	Het
Cfap65	A	G	1: 74,942,298 (GRCm39)	I1752T	probably benign	Het
Col4a4	A	G	1: 82,431,604 (GRCm39)	V1560A	unknown	Het
Dapk3	A	T	10: 81,019,864 (GRCm39)	Q6L	probably benign	Het
Dctn5	A	G	7: 121,732,460 (GRCm39)		probably benign	Het
Eef1akmt1	A	T	14: 57,787,330 (GRCm39)	I182N	possibly damaging	Het
Eef1g	T	C	19: 8,954,955 (GRCm39)	F346S	probably damaging	Het
Erap1	G	T	13: 74,794,398 (GRCm39)	W19L	probably benign	Het
Gm10801	A	G	2: 98,494,409 (GRCm39)	H162R	probably benign	Het
Gpm6a	G	A	8: 55,507,845 (GRCm39)	A194T	probably benign	Het
Grip1	C	A	10: 119,829,137 (GRCm39)	N32K	probably benign	Het
Hmcn1	A	G	1: 150,494,687 (GRCm39)	I4134T	probably damaging	Het
Hspa14	G	A	2: 3,499,105 (GRCm39)	H230Y	probably benign	Het
Ift172	T	C	5: 31,414,241 (GRCm39)	T1435A	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Lcor	T	C	19: 41,547,520 (GRCm39)	V368A	possibly damaging	Het
Lmna	C	A	3: 88,393,928 (GRCm39)	E217*	probably null	Het
Lrp1b	C	T	2: 41,231,894 (GRCm39)	G337E	probably benign	Het
Maf1	A	G	15: 76,236,312 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,722,571 (GRCm39)	I436V	probably damaging	Het
Muc4	C	T	16: 32,596,157 (GRCm39)	T3123I	possibly damaging	Het
Muc5b	T	A	7: 141,417,042 (GRCm39)	H3329Q	probably benign	Het
Noa1	C	T	5: 77,457,593 (GRCm39)	R104Q	probably benign	Het
Odc1	T	G	12: 17,599,473 (GRCm39)	S267A	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Pamr1	T	C	2: 102,441,953 (GRCm39)	Y181H	probably damaging	Het
Pcdhga2	T	A	18: 37,802,612 (GRCm39)	I152N	probably damaging	Het
Pigt	C	T	2: 164,348,365 (GRCm39)	Q437*	probably null	Het
Prx	T	C	7: 27,215,973 (GRCm39)	L158P	probably damaging	Het
Ptprh	T	A	7: 4,600,922 (GRCm39)	T152S	probably benign	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rad51ap2	T	C	12: 11,507,290 (GRCm39)	I404T	probably benign	Het
Radil	C	T	5: 142,529,399 (GRCm39)	R99H	probably damaging	Het
Rc3h2	C	T	2: 37,268,899 (GRCm39)	V856I	possibly damaging	Het
Slx4ip	T	A	2: 136,888,664 (GRCm39)	V115E	probably damaging	Het
Snx3	C	A	10: 42,402,042 (GRCm39)	S85R	probably benign	Het
Sppl2c	A	T	11: 104,077,963 (GRCm39)	E254D	probably benign	Het
Srms	C	A	2: 180,849,780 (GRCm39)	E237*	probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Trank1	T	C	9: 111,220,805 (GRCm39)	L2514P	probably damaging	Het
Trib1	C	T	15: 59,523,487 (GRCm39)	R174*	probably null	Het
Usp4	A	G	9: 108,233,703 (GRCm39)	Y108C	probably damaging	Het
Vmn2r60	A	T	7: 41,844,847 (GRCm39)	I737F	probably damaging	Het
Zfp600	A	T	4: 146,131,701 (GRCm39)	H123L	probably benign	Het
Zfp646	G	T	7: 127,478,190 (GRCm39)	R122S	possibly damaging	Het
Znfx1	A	G	2: 166,880,126 (GRCm39)	Y553H	probably benign	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
R1591:Or5p60	UTSW	7	107,723,571 (GRCm39)	missense	possibly damaging	0.56
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
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'- GCTTTACAAGGAAGTTGACAAGCA -3'
(R):5'- TGAATATAACATTGATGATTGCTCCA -3'

Sequencing Primer
(F):5'- TGACAAGCATATTGGGTGTGAC -3'
(R):5'- ACATTGATGATTGCTCCAATTTTTG -3'

Posted On

2017-08-16