Mutagenetix > Incidental Mutation

Incidental Mutation 'R8925:Or4k51'

680163

Institutional Source

Beutler Lab

Gene Symbol

Or4k51

Ensembl Gene

ENSMUSG00000057149

Gene Name

olfactory receptor family 4 subfamily K member 51

Synonyms

Olfr1301, MOR248-5, GA_x6K02T2Q125-72805651-72806589

MMRRC Submission

068708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111584596-111585534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111585107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 171 (H171L)

Ref Sequence

ENSEMBL: ENSMUSP00000146530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080094] [ENSMUST00000207590]

AlphaFold

Q8VGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000080094
AA Change: H171L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000078993
Gene: ENSMUSG00000057149
AA Change: H171L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.1e-53	PFAM
Pfam:7tm_1	41	287	2.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207590
AA Change: H171L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

95% (54/57)

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
1700017B05Rik	G	A	9: 57,165,805 (GRCm39)	R190*	probably null	Het
Aldh7a1	A	T	18: 56,660,060 (GRCm39)	S529T	probably benign	Het
Carmil2	T	G	8: 106,415,130 (GRCm39)	Y214*	probably null	Het
Ccdc136	A	G	6: 29,406,109 (GRCm39)	I152V	probably damaging	Het
Ccdc88c	T	C	12: 100,932,676 (GRCm39)	D285G	possibly damaging	Het
Clec4a3	T	A	6: 122,946,328 (GRCm39)	F191I	probably damaging	Het
Dlg5	A	T	14: 24,206,547 (GRCm39)	S1222T		Het
Dnaaf9	T	A	2: 130,579,300 (GRCm39)	R777*	probably null	Het
Dnah14	T	G	1: 181,508,321 (GRCm39)	L1833W	probably damaging	Het
Dsg2	T	C	18: 20,725,535 (GRCm39)	W549R	probably damaging	Het
Ezh2	A	T	6: 47,510,713 (GRCm39)	V632E	possibly damaging	Het
Fam83a	G	A	15: 57,873,313 (GRCm39)	V381M	probably benign	Het
Flacc1	A	T	1: 58,706,882 (GRCm39)		probably null	Het
Fmo2	T	C	1: 162,704,398 (GRCm39)	T503A	probably benign	Het
Foxo1	T	C	3: 52,252,703 (GRCm39)	F289L	probably damaging	Het
Gckr	A	G	5: 31,456,903 (GRCm39)	E96G	probably damaging	Het
Gm18596	G	A	10: 77,578,162 (GRCm39)	A104V	unknown	Het
Gm21680	A	T	5: 26,176,347 (GRCm39)	N83K	probably damaging	Het
Gnb5	T	C	9: 75,252,236 (GRCm39)	V393A	possibly damaging	Het
Grin2b	T	G	6: 135,749,339 (GRCm39)	Q621P	probably damaging	Het
Gtsf2	T	C	15: 103,352,783 (GRCm39)	I79V	probably benign	Het
Itga1	T	C	13: 115,105,055 (GRCm39)	I1040V	probably benign	Het
Kif2b	C	T	11: 91,468,023 (GRCm39)	E87K	probably benign	Het
Klk1b8	G	A	7: 43,604,206 (GRCm39)	G225S	probably damaging	Het
L3mbtl3	A	T	10: 26,220,084 (GRCm39)	C94S	unknown	Het
Man2c1	T	G	9: 57,048,456 (GRCm39)	Y872*	probably null	Het
Mical3	T	A	6: 120,984,325 (GRCm39)	M832L	probably benign	Het
Mrc2	A	G	11: 105,216,334 (GRCm39)	D41G	probably benign	Het
Nedd1	T	A	10: 92,558,258 (GRCm39)		probably benign	Het
Nefh	TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG	TTTGGCCTCACCTGGTGACTTG	11: 4,890,530 (GRCm39)		probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	C	T	17: 32,372,792 (GRCm39)	R593Q	probably benign	Het
Nxpe3	T	G	16: 55,669,997 (GRCm39)	E369D	possibly damaging	Het
Obscn	T	A	11: 58,977,695 (GRCm39)	T1802S	possibly damaging	Het
Or1e33	A	T	11: 73,738,406 (GRCm39)	F182I	probably benign	Het
Or2a7	T	C	6: 43,151,669 (GRCm39)	F250L	probably benign	Het
Or9s14	A	G	1: 92,536,438 (GRCm39)	N293S	probably damaging	Het
Oscar	A	C	7: 3,614,747 (GRCm39)	V75G	probably benign	Het
Pcdhb17	G	A	18: 37,620,372 (GRCm39)	A721T	probably benign	Het
Pcnx2	T	C	8: 126,614,659 (GRCm39)	Y264C	probably benign	Het
Pear1	G	T	3: 87,661,890 (GRCm39)	A495D	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhf1	C	A	7: 37,920,998 (GRCm39)	R190L	probably damaging	Het
Plppr5	T	C	3: 117,369,532 (GRCm39)	V63A	probably benign	Het
Pyroxd1	T	A	6: 142,300,437 (GRCm39)	F189Y	probably damaging	Het
Rab13	C	T	3: 90,128,120 (GRCm39)		probably benign	Het
Rptor	C	T	11: 119,782,036 (GRCm39)	T1121I	probably benign	Het
Scgb2b7	T	C	7: 31,404,602 (GRCm39)	S33G	probably benign	Het
Slc25a36	A	G	9: 96,982,126 (GRCm39)		probably null	Het
Smc1b	A	T	15: 84,991,273 (GRCm39)		probably null	Het
Smtn	T	A	11: 3,479,477 (GRCm39)	H530L	possibly damaging	Het
Srrt	C	T	5: 137,297,070 (GRCm39)	C411Y	probably benign	Het
Stag1	C	A	9: 100,587,298 (GRCm39)	P7Q	possibly damaging	Het
Tarm1	G	A	7: 3,537,719 (GRCm39)	T248I	possibly damaging	Het
Tektl1	T	C	10: 78,588,258 (GRCm39)	Y184C	probably damaging	Het
Trim6	C	T	7: 103,881,655 (GRCm39)	A328V	probably benign	Het
Vmn1r189	T	C	13: 22,286,811 (GRCm39)	I9V	probably benign	Het
Vmn2r93	A	G	17: 18,546,500 (GRCm39)	T791A	probably damaging	Het
Vsig10l	A	G	7: 43,116,020 (GRCm39)	T454A	probably benign	Het

Other mutations in Or4k51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Or4k51	APN	2	111,584,771 (GRCm39)	missense	probably damaging	1.00
IGL01396:Or4k51	APN	2	111,584,848 (GRCm39)	missense	probably benign	0.01
IGL01396:Or4k51	APN	2	111,584,948 (GRCm39)	missense	probably damaging	1.00
IGL01538:Or4k51	APN	2	111,585,350 (GRCm39)	missense	probably damaging	0.98
IGL01795:Or4k51	APN	2	111,584,731 (GRCm39)	missense	probably benign	0.00
IGL02007:Or4k51	APN	2	111,584,824 (GRCm39)	missense	probably damaging	0.99
IGL02738:Or4k51	APN	2	111,584,699 (GRCm39)	missense	probably damaging	1.00
IGL03365:Or4k51	APN	2	111,584,772 (GRCm39)	missense	possibly damaging	0.95
R0014:Or4k51	UTSW	2	111,585,119 (GRCm39)	missense	probably damaging	1.00
R0115:Or4k51	UTSW	2	111,584,930 (GRCm39)	missense	probably damaging	1.00
R0481:Or4k51	UTSW	2	111,584,930 (GRCm39)	missense	probably damaging	1.00
R1441:Or4k51	UTSW	2	111,585,347 (GRCm39)	missense	probably damaging	1.00
R1583:Or4k51	UTSW	2	111,584,770 (GRCm39)	missense	probably damaging	0.98
R2091:Or4k51	UTSW	2	111,584,731 (GRCm39)	missense	probably benign	0.00
R2301:Or4k51	UTSW	2	111,584,621 (GRCm39)	missense	probably benign	0.01
R2363:Or4k51	UTSW	2	111,585,139 (GRCm39)	missense	probably damaging	0.97
R2511:Or4k51	UTSW	2	111,584,661 (GRCm39)	missense	probably benign	0.00
R3686:Or4k51	UTSW	2	111,584,914 (GRCm39)	missense	probably benign	0.00
R4841:Or4k51	UTSW	2	111,584,679 (GRCm39)	missense	probably benign	0.00
R4915:Or4k51	UTSW	2	111,584,725 (GRCm39)	missense	probably benign	0.00
R4961:Or4k51	UTSW	2	111,584,750 (GRCm39)	missense	probably damaging	1.00
R5123:Or4k51	UTSW	2	111,584,897 (GRCm39)	missense	probably damaging	1.00
R5417:Or4k51	UTSW	2	111,585,265 (GRCm39)	missense	possibly damaging	0.50
R5654:Or4k51	UTSW	2	111,585,326 (GRCm39)	missense	probably damaging	1.00
R5753:Or4k51	UTSW	2	111,585,146 (GRCm39)	missense	possibly damaging	0.51
R6361:Or4k51	UTSW	2	111,584,940 (GRCm39)	missense	probably damaging	1.00
R6525:Or4k51	UTSW	2	111,585,329 (GRCm39)	missense	probably benign	0.09
R6682:Or4k51	UTSW	2	111,584,980 (GRCm39)	missense	probably damaging	1.00
R7099:Or4k51	UTSW	2	111,585,421 (GRCm39)	missense	probably benign	0.00
R7946:Or4k51	UTSW	2	111,585,163 (GRCm39)	missense	probably benign	0.00
R8927:Or4k51	UTSW	2	111,585,107 (GRCm39)	missense	probably benign	0.02
R9272:Or4k51	UTSW	2	111,584,965 (GRCm39)	missense	probably damaging	0.99
R9451:Or4k51	UTSW	2	111,585,218 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GATCATTTCCTTTGCAGGCTGC -3'
(R):5'- GCTTTAGAGCTCTGGCGAAC -3'

Sequencing Primer
(F):5'- AGGCTGCATGTCCCAGGTC -3'
(R):5'- CTGGCGAACAGTGAGAAGGATATATG -3'

Posted On

2021-08-31