Mutagenetix > Incidental Mutation

Incidental Mutation 'R7982:Or51f5'

651266

Institutional Source

Beutler Lab

Gene Symbol

Or51f5

Ensembl Gene

ENSMUSG00000073966

Gene Name

olfactory receptor family 51 subfamily F member 5

Synonyms

GA_x6K02T2PBJ9-5491151-5492095, Olfr561, MOR14-2

MMRRC Submission

046023-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102423733-102424677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102424310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 193 (D193V)

Ref Sequence

ENSEMBL: ENSMUSP00000150963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098217] [ENSMUST00000213432]

AlphaFold

Q8VGZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098217
AA Change: D193V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095819
Gene: ENSMUSG00000073966
AA Change: D193V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	5.1e-122	PFAM
Pfam:7TM_GPCR_Srsx	37	259	9.6e-8	PFAM
Pfam:7tm_1	43	294	4.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213432
AA Change: D193V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,150,284 (GRCm39)	S625P	probably damaging	Het
Actl6b	A	G	5: 137,561,424 (GRCm39)	N142S	probably benign	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Aox4	A	C	1: 58,296,400 (GRCm39)	L1032F	possibly damaging	Het
Atosb	T	C	4: 43,034,483 (GRCm39)	T371A	probably damaging	Het
Bcl2l15	T	C	3: 103,740,158 (GRCm39)	M4T	probably damaging	Het
Cand1	A	T	10: 119,052,378 (GRCm39)	S242R	probably damaging	Het
Cant1	A	T	11: 118,300,968 (GRCm39)	V229D	probably benign	Het
Ccdc117	A	G	11: 5,481,460 (GRCm39)	S224P	possibly damaging	Het
Cdc42ep4	T	C	11: 113,619,402 (GRCm39)	R330G	possibly damaging	Het
Cep164	T	C	9: 45,690,162 (GRCm39)	E527G	probably benign	Het
Cfap58	A	G	19: 47,963,006 (GRCm39)	D472G	probably benign	Het
Cln6	A	C	9: 62,756,450 (GRCm39)	K198T	possibly damaging	Het
Col4a4	G	A	1: 82,549,162 (GRCm39)		probably benign	Het
Cyp1b1	T	C	17: 80,017,919 (GRCm39)	Y412C	probably damaging	Het
Dhx30	A	T	9: 109,914,524 (GRCm39)	L991Q	probably damaging	Het
Dst	C	T	1: 34,221,621 (GRCm39)	T2475I	possibly damaging	Het
Exoc8	A	T	8: 125,623,149 (GRCm39)	V406E	probably damaging	Het
Grk6	T	A	13: 55,599,519 (GRCm39)	C201S	probably damaging	Het
Helz	T	C	11: 107,517,456 (GRCm39)	V664A	possibly damaging	Het
Hsd17b11	A	G	5: 104,151,090 (GRCm39)	C215R	possibly damaging	Het
Ift25	T	C	4: 107,132,480 (GRCm39)	V89A	probably benign	Het
Kbtbd12	T	C	6: 88,595,616 (GRCm39)	I71M	possibly damaging	Het
Khdc1a	A	T	1: 21,421,130 (GRCm39)	H105L	probably benign	Het
Klf6	T	A	13: 5,911,822 (GRCm39)	L62Q	probably damaging	Het
Mc1r	A	G	8: 124,134,879 (GRCm39)	R211G	probably damaging	Het
Nt5m	T	A	11: 59,739,157 (GRCm39)	W68R	possibly damaging	Het
Nufip1	T	C	14: 76,363,679 (GRCm39)	V301A	probably benign	Het
Or10ac1	T	A	6: 42,515,225 (GRCm39)	T244S	probably damaging	Het
Or12d14-ps1	T	G	17: 37,673,502 (GRCm39)	F165V	probably damaging	Het
Or2b7	T	C	13: 21,740,136 (GRCm39)	N19D	probably benign	Het
Or5ac25	A	G	16: 59,181,927 (GRCm39)	I218T	probably benign	Het
Ostn	T	C	16: 27,140,189 (GRCm39)		probably null	Het
Pcdhb6	C	T	18: 37,467,273 (GRCm39)	R65*	probably null	Het
Pds5b	T	C	5: 150,693,406 (GRCm39)	I706T	probably damaging	Het
Pgm2	T	G	5: 64,258,302 (GRCm39)	Y96D	probably damaging	Het
Pkd1l2	G	A	8: 117,777,926 (GRCm39)	T875I	possibly damaging	Het
Poc1b	A	G	10: 99,000,764 (GRCm39)	S355G	probably benign	Het
Ppp6r1	A	C	7: 4,646,157 (GRCm39)	D181E	probably benign	Het
Pstpip2	G	A	18: 77,967,073 (GRCm39)	V325M	probably benign	Het
Rras2	A	T	7: 113,658,186 (GRCm39)	V92D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	GTCTTCTTCTTCTTCTTC	GTCTTCTTCTTCTTC	2: 112,499,594 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,933,379 (GRCm39)	M188L	probably benign	Het
Synrg	G	A	11: 83,910,644 (GRCm39)	D859N	probably damaging	Het
Tarbp1	A	T	8: 127,171,040 (GRCm39)	S987T	probably damaging	Het
Tbx20	C	A	9: 24,685,220 (GRCm39)		probably benign	Het
Trim30d	G	T	7: 104,121,817 (GRCm39)	N309K	possibly damaging	Het
Ttc16	C	T	2: 32,665,047 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,945,875 (GRCm39)	I303N	possibly damaging	Het
Ubr4	T	C	4: 139,155,519 (GRCm39)		probably null	Het
Uros	A	T	7: 133,294,278 (GRCm39)	S168T	unknown	Het
Vmn2r6	C	T	3: 64,467,241 (GRCm39)	G86D	probably damaging	Het
Ybx2	C	T	11: 69,831,448 (GRCm39)	T295I	possibly damaging	Het
Zbed5	T	A	5: 129,929,321 (GRCm39)	C146S	possibly damaging	Het
Zcchc2	G	A	1: 105,958,901 (GRCm39)	C1124Y	probably damaging	Het
Zfp626	G	A	7: 27,510,175 (GRCm39)		probably null	Het

Other mutations in Or51f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02260:Or51f5	APN	7	102,424,114 (GRCm39)	missense	probably damaging	0.99
IGL02743:Or51f5	APN	7	102,424,505 (GRCm39)	missense	probably damaging	0.99
IGL03001:Or51f5	APN	7	102,424,460 (GRCm39)	missense	probably damaging	0.98
R0254:Or51f5	UTSW	7	102,424,076 (GRCm39)	nonsense	probably null
R0356:Or51f5	UTSW	7	102,424,286 (GRCm39)	missense	probably damaging	1.00
R0514:Or51f5	UTSW	7	102,424,539 (GRCm39)	missense	probably benign	0.00
R0725:Or51f5	UTSW	7	102,423,739 (GRCm39)	missense	probably benign
R0739:Or51f5	UTSW	7	102,423,872 (GRCm39)	missense	probably damaging	1.00
R1900:Or51f5	UTSW	7	102,424,538 (GRCm39)	missense	probably benign	0.19
R2080:Or51f5	UTSW	7	102,424,450 (GRCm39)	missense	probably benign	0.02
R2212:Or51f5	UTSW	7	102,423,962 (GRCm39)	missense	possibly damaging	0.77
R2379:Or51f5	UTSW	7	102,424,052 (GRCm39)	missense	probably benign	0.33
R3412:Or51f5	UTSW	7	102,423,962 (GRCm39)	missense	possibly damaging	0.77
R3834:Or51f5	UTSW	7	102,424,493 (GRCm39)	missense	probably damaging	1.00
R4117:Or51f5	UTSW	7	102,423,684 (GRCm39)	splice site	probably null
R4363:Or51f5	UTSW	7	102,424,463 (GRCm39)	missense	probably benign	0.34
R4401:Or51f5	UTSW	7	102,424,006 (GRCm39)	nonsense	probably null
R5176:Or51f5	UTSW	7	102,424,513 (GRCm39)	missense	probably damaging	0.99
R5464:Or51f5	UTSW	7	102,424,640 (GRCm39)	missense	probably benign	0.00
R5465:Or51f5	UTSW	7	102,424,640 (GRCm39)	missense	probably benign	0.00
R5493:Or51f5	UTSW	7	102,424,315 (GRCm39)	missense	probably benign	0.00
R5540:Or51f5	UTSW	7	102,424,136 (GRCm39)	missense	probably benign	0.02
R5629:Or51f5	UTSW	7	102,423,847 (GRCm39)	missense	possibly damaging	0.63
R6227:Or51f5	UTSW	7	102,423,883 (GRCm39)	missense	probably damaging	0.98
R6367:Or51f5	UTSW	7	102,424,036 (GRCm39)	missense	possibly damaging	0.92
R6497:Or51f5	UTSW	7	102,424,657 (GRCm39)	missense	probably benign	0.00
R7219:Or51f5	UTSW	7	102,430,913 (GRCm39)	missense	probably benign	0.00
R7243:Or51f5	UTSW	7	102,430,865 (GRCm39)	missense	probably benign
R7289:Or51f5	UTSW	7	102,424,634 (GRCm39)	missense	probably damaging	1.00
R7560:Or51f5	UTSW	7	102,430,889 (GRCm39)	missense	probably damaging	1.00
R7731:Or51f5	UTSW	7	102,424,141 (GRCm39)	missense	probably benign	0.05
R8025:Or51f5	UTSW	7	102,424,463 (GRCm39)	missense	probably benign	0.34
R8222:Or51f5	UTSW	7	102,424,099 (GRCm39)	missense	probably damaging	1.00
R8304:Or51f5	UTSW	7	102,423,917 (GRCm39)	missense	possibly damaging	0.48
R8404:Or51f5	UTSW	7	102,424,134 (GRCm39)	nonsense	probably null
R8540:Or51f5	UTSW	7	102,424,339 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CCCACTGAGGTATGCTATGATC -3'
(R):5'- GCACCAATGACAGGCTGATC -3'

Sequencing Primer
(F):5'- CACTGAGGTATGCTATGATCTTAACC -3'
(R):5'- CACCAATGACAGGCTGATCATAGG -3'

Posted On

2020-09-15