Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Or5p76'

535927

Institutional Source

Beutler Lab

Gene Symbol

Or5p76

Ensembl Gene

ENSMUSG00000058014

Gene Name

olfactory receptor family 5 subfamily P member 76

Synonyms

Olfr502, MOR204-8, GA_x6K02T2PBJ9-10853935-10852991

MMRRC Submission

044965-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108122211-108123155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108122377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 260 (F260S)

Ref Sequence

ENSEMBL: ENSMUSP00000151167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078933] [ENSMUST00000216919]

AlphaFold

Q8VG09

Predicted Effect

probably damaging
Transcript: ENSMUST00000078933
AA Change: F260S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077963
Gene: ENSMUSG00000058014
AA Change: F260S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	4.8e-55	PFAM
Pfam:7tm_1	44	293	7.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216919
AA Change: F260S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	probably benign	Het

Other mutations in Or5p76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Or5p76	APN	7	108,122,492 (GRCm39)	missense	probably benign	0.00
R0007:Or5p76	UTSW	7	108,122,420 (GRCm39)	missense	probably damaging	1.00
R0650:Or5p76	UTSW	7	108,122,289 (GRCm39)	missense	probably damaging	1.00
R1448:Or5p76	UTSW	7	108,122,525 (GRCm39)	missense	probably benign
R1469:Or5p76	UTSW	7	108,122,411 (GRCm39)	missense	probably benign	0.14
R1469:Or5p76	UTSW	7	108,122,411 (GRCm39)	missense	probably benign	0.14
R1701:Or5p76	UTSW	7	108,122,731 (GRCm39)	missense	probably benign	0.01
R3736:Or5p76	UTSW	7	108,122,626 (GRCm39)	missense	possibly damaging	0.79
R5030:Or5p76	UTSW	7	108,122,384 (GRCm39)	missense	possibly damaging	0.66
R5315:Or5p76	UTSW	7	108,123,097 (GRCm39)	missense	probably damaging	1.00
R6052:Or5p76	UTSW	7	108,122,945 (GRCm39)	missense	probably benign	0.34
R6548:Or5p76	UTSW	7	108,122,423 (GRCm39)	missense	probably benign	0.00
R6946:Or5p76	UTSW	7	108,122,528 (GRCm39)	missense	probably benign	0.02
R7582:Or5p76	UTSW	7	108,123,058 (GRCm39)	missense	probably benign	0.00
R8771:Or5p76	UTSW	7	108,122,632 (GRCm39)	missense	possibly damaging	0.62
R8824:Or5p76	UTSW	7	108,122,350 (GRCm39)	missense	probably benign	0.28
R8854:Or5p76	UTSW	7	108,122,936 (GRCm39)	missense	probably benign	0.00
R9398:Or5p76	UTSW	7	108,123,035 (GRCm39)	missense	probably damaging	0.98
Z1088:Or5p76	UTSW	7	108,122,605 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCACATGCTAACACTGTCATC -3'
(R):5'- TCACAGCTGGCTCCATCATC -3'

Sequencing Primer
(F):5'- GTCATCAATCCTTTTTAGTCAGAACC -3'
(R):5'- AGCTGGCTCCATCATCATTGTG -3'

Posted On

2018-10-18