Mutagenetix > Incidental Mutation

Incidental Mutation 'R0086:Or51k1'

19897

Institutional Source

Beutler Lab

Gene Symbol

Or51k1

Ensembl Gene

ENSMUSG00000066263

Gene Name

olfactory receptor family 51 subfamily K member 1

Synonyms

GA_x6K02T2PBJ9-6747143-6746193, MOR12-1, Olfr639

MMRRC Submission

038373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103660957-103661907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103661261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 216 (I216T)

Ref Sequence

ENSEMBL: ENSMUSP00000149743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106862] [ENSMUST00000138055] [ENSMUST00000215653]

AlphaFold

Q8VGY8

Predicted Effect

probably benign
Transcript: ENSMUST00000106862
AA Change: I216T

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102475
Gene: ENSMUSG00000066263
AA Change: I216T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.4e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	173	3.6e-9	PFAM
Pfam:7tm_1	43	294	4.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215653
AA Change: I216T

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.6%
20x: 86.6%

Validation Efficiency

96% (91/95)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,946,802 (GRCm39)	V233D	probably benign	Het
Abcg8	T	C	17: 85,000,199 (GRCm39)	V252A	probably damaging	Het
Adam39	C	T	8: 41,279,397 (GRCm39)	T596I	possibly damaging	Het
Agap2	C	A	10: 126,923,751 (GRCm39)		probably null	Het
Ap4b1	T	G	3: 103,722,176 (GRCm39)	V50G	probably damaging	Het
Atp13a1	T	A	8: 70,250,424 (GRCm39)	I381N	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Birc6	T	C	17: 74,900,161 (GRCm39)	V1113A	possibly damaging	Het
C1galt1	T	A	6: 7,867,051 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,660,773 (GRCm39)	K158E	probably damaging	Het
Cenpe	C	T	3: 134,970,185 (GRCm39)		probably benign	Het
Cercam	T	C	2: 29,761,076 (GRCm39)	L42P	probably damaging	Het
Cfap54	T	C	10: 92,864,456 (GRCm39)	E807G	possibly damaging	Het
Cog6	A	G	3: 52,900,991 (GRCm39)	V157A	probably damaging	Het
Cts6	A	T	13: 61,344,271 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,357 (GRCm39)	I15F	unknown	Het
Dock7	A	T	4: 98,833,381 (GRCm39)	V1970D	probably damaging	Het
Exph5	A	G	9: 53,249,230 (GRCm39)	D73G	possibly damaging	Het
Gjc2	A	T	11: 59,067,672 (GRCm39)	M270K	probably benign	Het
Gns	G	A	10: 121,227,378 (GRCm39)	D463N	probably damaging	Het
Hoxd8	G	T	2: 74,536,276 (GRCm39)	G129W	probably damaging	Het
Ina	A	G	19: 47,012,030 (GRCm39)	T483A	possibly damaging	Het
Lmod3	T	A	6: 97,224,306 (GRCm39)	Q505L	probably damaging	Het
Map3k13	A	G	16: 21,732,975 (GRCm39)	N526D	probably damaging	Het
Map3k2	A	T	18: 32,351,521 (GRCm39)	I435F	probably damaging	Het
Mfsd6l	A	G	11: 68,447,391 (GRCm39)	T81A	probably benign	Het
Micall1	T	C	15: 79,009,689 (GRCm39)		probably benign	Het
Mkrn2	G	T	6: 115,590,296 (GRCm39)	M217I	possibly damaging	Het
Mtrex	G	T	13: 113,063,862 (GRCm39)	F10L	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Ncapg	A	G	5: 45,834,086 (GRCm39)		probably null	Het
Nlrp9a	G	A	7: 26,257,972 (GRCm39)	C530Y	probably damaging	Het
Numb	T	C	12: 83,842,704 (GRCm39)	T442A	probably damaging	Het
Oip5	C	T	2: 119,448,410 (GRCm39)		probably benign	Het
Or1j14	A	T	2: 36,417,462 (GRCm39)	I13F	possibly damaging	Het
Or4c119	C	T	2: 88,986,820 (GRCm39)	R233H	probably benign	Het
Or8g22	T	C	9: 38,958,191 (GRCm39)	T175A	probably benign	Het
Pcnx1	T	C	12: 82,038,832 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,419,404 (GRCm39)	N2956K	possibly damaging	Het
Plcl1	T	A	1: 55,754,742 (GRCm39)	W1030R	probably damaging	Het
Polr2i	G	A	7: 29,932,511 (GRCm39)	V73M	probably damaging	Het
Prr14l	T	A	5: 32,988,903 (GRCm39)		probably benign	Het
Pxdn	G	T	12: 30,052,418 (GRCm39)	R865L	possibly damaging	Het
Scnn1a	T	C	6: 125,319,550 (GRCm39)		probably benign	Het
Shkbp1	G	T	7: 27,051,451 (GRCm39)	H203N	probably benign	Het
Slc22a14	C	T	9: 119,051,804 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,246,100 (GRCm39)	T240K	probably damaging	Het
Sp2	C	A	11: 96,848,253 (GRCm39)	G457C	probably damaging	Het
Ssr2	C	T	3: 88,484,187 (GRCm39)		probably benign	Het
Synpo2	A	T	3: 122,910,753 (GRCm39)	C297*	probably null	Het
Tpm3	T	A	3: 89,997,399 (GRCm39)		probably benign	Het
Trmt6	CTG	C	2: 132,650,937 (GRCm39)		probably benign	Het
Trp63	T	C	16: 25,689,837 (GRCm39)	Y431H	probably damaging	Het
Tuba3b	T	A	6: 145,566,886 (GRCm39)	C376S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Ulk1	G	A	5: 110,935,573 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,249,557 (GRCm39)	S1425P	probably damaging	Het
Xdh	T	C	17: 74,191,433 (GRCm39)	I1335V	probably benign	Het
Zmynd15	T	C	11: 70,355,058 (GRCm39)	Y352H	probably damaging	Het

Other mutations in Or51k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or51k1	APN	7	103,661,321 (GRCm39)	missense	probably damaging	1.00
IGL01547:Or51k1	APN	7	103,661,867 (GRCm39)	missense	probably benign	0.43
IGL02173:Or51k1	APN	7	103,661,037 (GRCm39)	missense	probably damaging	1.00
IGL02707:Or51k1	APN	7	103,661,609 (GRCm39)	missense	probably damaging	1.00
IGL03124:Or51k1	APN	7	103,661,001 (GRCm39)	missense	probably benign
R0004:Or51k1	UTSW	7	103,661,638 (GRCm39)	missense	probably benign	0.02
R0370:Or51k1	UTSW	7	103,661,266 (GRCm39)	missense	probably damaging	0.99
R0599:Or51k1	UTSW	7	103,661,395 (GRCm39)	nonsense	probably null
R1351:Or51k1	UTSW	7	103,661,523 (GRCm39)	missense	possibly damaging	0.81
R1604:Or51k1	UTSW	7	103,661,162 (GRCm39)	missense	probably damaging	1.00
R2314:Or51k1	UTSW	7	103,661,436 (GRCm39)	missense	probably benign	0.09
R2656:Or51k1	UTSW	7	103,661,072 (GRCm39)	missense	probably damaging	0.96
R4594:Or51k1	UTSW	7	103,661,624 (GRCm39)	missense	probably benign	0.01
R4774:Or51k1	UTSW	7	103,661,795 (GRCm39)	missense	probably benign	0.00
R4945:Or51k1	UTSW	7	103,661,585 (GRCm39)	missense	possibly damaging	0.85
R4968:Or51k1	UTSW	7	103,661,777 (GRCm39)	missense	probably damaging	1.00
R4981:Or51k1	UTSW	7	103,661,312 (GRCm39)	missense	probably damaging	0.97
R5072:Or51k1	UTSW	7	103,661,325 (GRCm39)	missense	probably damaging	0.97
R5982:Or51k1	UTSW	7	103,661,117 (GRCm39)	missense	probably damaging	1.00
R6303:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6304:Or51k1	UTSW	7	103,661,238 (GRCm39)	missense	probably damaging	1.00
R6332:Or51k1	UTSW	7	103,660,980 (GRCm39)	missense	probably benign	0.00
R7107:Or51k1	UTSW	7	103,661,489 (GRCm39)	missense	probably benign	0.16
R7152:Or51k1	UTSW	7	103,661,226 (GRCm39)	missense	probably benign
R7456:Or51k1	UTSW	7	103,661,045 (GRCm39)	missense	possibly damaging	0.83
R7849:Or51k1	UTSW	7	103,661,510 (GRCm39)	missense	possibly damaging	0.56
R8023:Or51k1	UTSW	7	103,661,006 (GRCm39)	missense	probably damaging	0.97
R8082:Or51k1	UTSW	7	103,661,897 (GRCm39)	missense	probably benign	0.04
R8215:Or51k1	UTSW	7	103,661,330 (GRCm39)	missense	possibly damaging	0.85
R8428:Or51k1	UTSW	7	103,661,632 (GRCm39)	nonsense	probably null
R8985:Or51k1	UTSW	7	103,661,367 (GRCm39)	missense	probably damaging	1.00
R9261:Or51k1	UTSW	7	103,661,336 (GRCm39)	missense	probably damaging	1.00
Z1177:Or51k1	UTSW	7	103,661,357 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCACAAACAGATAGATGCTCGAC -3'
(R):5'- AATCCTCTGCGCTATACAGCCATTC -3'

Sequencing Primer
(F):5'- CTCGACATAAGTGTGTGGACC -3'
(R):5'- CTAAAGAGTGTTGCACTCATGGC -3'

Posted On

2013-04-11