Mutagenetix > Incidental Mutation

Incidental Mutation 'R2212:Or51f5'

239449

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

040214-MU

Accession Numbers

Essential gene?

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

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102423733-102424677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102423962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 77 (L77P)

Ref Sequence

ENSEMBL: ENSMUSP00000150963 (fasta)

Gene Model

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

AlphaFold

Q8VGZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098217
AA Change: L77P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095819
Gene: ENSMUSG00000073966
AA Change: L77P

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

possibly damaging
Transcript: ENSMUST00000213432
AA Change: L77P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,977 (GRCm39)	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Angptl4	A	G	17: 33,994,392 (GRCm39)	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Cibar1	A	G	4: 12,171,696 (GRCm39)		probably null	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,706,037 (GRCm39)	E376V	possibly damaging	Het
Deup1	A	T	9: 15,511,139 (GRCm39)	D213E	probably benign	Het
Ehmt2	A	G	17: 35,118,341 (GRCm39)	S39G	probably benign	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscn2	G	T	11: 120,252,417 (GRCm39)		probably benign	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
H2-M11	G	A	17: 36,859,822 (GRCm39)	V272M	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Kcnq3	A	T	15: 65,892,142 (GRCm39)	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,458,538 (GRCm39)	Y775C	probably damaging	Het
Krt84	A	C	15: 101,440,973 (GRCm39)	V73G	probably benign	Het
Lcp2	A	C	11: 34,020,995 (GRCm39)	D117A	probably benign	Het
Lemd1	C	A	1: 132,156,024 (GRCm39)	T22K	probably benign	Het
Mdm4	T	C	1: 132,922,260 (GRCm39)	D294G	probably damaging	Het
Mep1a	G	A	17: 43,788,154 (GRCm39)	A634V	probably benign	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732 (GRCm39)	L918F	probably damaging	Het
Or10d4	T	A	9: 39,580,524 (GRCm39)	M57K	probably damaging	Het
Or2v2	C	T	11: 49,004,043 (GRCm39)	C170Y	probably damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Pfkfb2	A	T	1: 130,635,269 (GRCm39)	N97K	probably damaging	Het
Phlda1	A	T	10: 111,343,029 (GRCm39)	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,444,291 (GRCm39)	Q291*	probably null	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,379 (GRCm39)	T73A	possibly damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,280,985 (GRCm39)	D53N	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Sry	T	A	Y: 2,663,339 (GRCm39)	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Syt1	G	T	10: 108,340,275 (GRCm39)	P348T	possibly damaging	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim59	T	C	3: 68,944,876 (GRCm39)	T155A	probably benign	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,437,008 (GRCm39)	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,794,209 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	probably damaging	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
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
R7982:Or51f5	UTSW	7	102,424,310 (GRCm39)	missense	probably damaging	1.00
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'- TCCTTCAACGAGAGCACTGC -3'
(R):5'- TAGCATACCTCAGTGGGTTACAG -3'

Sequencing Primer
(F):5'- ACTGGCATTCCTGGTCTTGAGAC -3'
(R):5'- CATACCTCAGTGGGTTACAGATGGC -3'

Posted On

2014-10-15