Mutagenetix > Incidental Mutation

Incidental Mutation 'R7740:Or4k52'

596474

Institutional Source

Beutler Lab

Gene Symbol

Or4k52

Ensembl Gene

ENSMUSG00000044560

Gene Name

olfactory receptor family 4 subfamily K member 52

Synonyms

Olfr1302, GA_x6K02T2Q125-72831562-72832500, MOR248-3

MMRRC Submission

045796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7740 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111610658-111611605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111610793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 43 (I43F)

Ref Sequence

ENSEMBL: ENSMUSP00000149935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000214708] [ENSMUST00000215244]

AlphaFold

Q8VGE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054004
AA Change: I46F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: I46F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	2.4e-49	PFAM
Pfam:7tm_1	44	290	8.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214708
AA Change: I43F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215244
AA Change: I43F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,370 (GRCm39)	Q163*	probably null	Het
Anxa6	T	A	11: 54,898,725 (GRCm39)	T150S	probably damaging	Het
Bpifb6	T	A	2: 153,744,929 (GRCm39)	L45Q	probably damaging	Het
Brwd1	T	C	16: 95,828,568 (GRCm39)	D1121G	probably damaging	Het
C1ql3	A	G	2: 13,015,483 (GRCm39)	I59T	possibly damaging	Het
Ccdc80	A	G	16: 44,924,888 (GRCm39)	H674R	possibly damaging	Het
Cdhr1	T	G	14: 36,811,337 (GRCm39)	E258A	probably damaging	Het
Ces2g	T	A	8: 105,692,962 (GRCm39)	F333L	probably damaging	Het
Chn2	C	T	6: 54,277,156 (GRCm39)	T445I	probably benign	Het
Cpe	T	C	8: 65,050,562 (GRCm39)	D382G	possibly damaging	Het
Crb1	T	A	1: 139,165,428 (GRCm39)	I960L	probably benign	Het
Cyp4a14	A	T	4: 115,350,806 (GRCm39)	V156D	probably damaging	Het
Ddx23	A	T	15: 98,556,315 (GRCm39)	M1K	probably null	Het
Dnajc7	T	C	11: 100,482,387 (GRCm39)	I202V	probably benign	Het
Dsn1	T	A	2: 156,839,636 (GRCm39)	D255V	possibly damaging	Het
Dvl3	A	T	16: 20,346,000 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,266,684 (GRCm39)	D143G	possibly damaging	Het
Erc1	T	A	6: 119,738,149 (GRCm39)	M565L	probably benign	Het
Fancm	T	C	12: 65,173,321 (GRCm39)	C1878R	possibly damaging	Het
Gapvd1	T	C	2: 34,590,834 (GRCm39)	E946G	probably damaging	Het
Gm9195	C	T	14: 72,678,113 (GRCm39)	R2352K	possibly damaging	Het
Greb1	C	A	12: 16,790,122 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,362,678 (GRCm39)	A44V	possibly damaging	Het
Herc4	A	G	10: 63,105,457 (GRCm39)	Y146C	probably benign	Het
Herc6	T	G	6: 57,636,802 (GRCm39)		probably null	Het
Hivep2	G	T	10: 14,003,414 (GRCm39)	G4V	probably damaging	Het
Hsdl2	G	T	4: 59,612,724 (GRCm39)	G425V	probably damaging	Het
Igkv1-110	C	T	6: 68,247,974 (GRCm39)	L28F	probably benign	Het
Il21r	T	A	7: 125,231,727 (GRCm39)	L385Q	possibly damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Krtap5-2	C	T	7: 141,728,699 (GRCm39)	C149Y	unknown	Het
Lingo2	T	A	4: 35,709,248 (GRCm39)	N244I	probably damaging	Het
Lrrk2	C	T	15: 91,651,527 (GRCm39)	R1728C	probably damaging	Het
Macf1	A	G	4: 123,578,096 (GRCm39)		probably benign	Het
Malrd1	G	A	2: 15,619,026 (GRCm39)	V297I	not run	Het
Mars1	T	A	10: 127,136,444 (GRCm39)	E460D	probably benign	Het
Nr1i3	A	G	1: 171,044,396 (GRCm39)	I174V	probably benign	Het
Odf2	C	T	2: 29,820,636 (GRCm39)	T814M	probably damaging	Het
Or10q1	T	C	19: 13,727,328 (GRCm39)	V286A	probably benign	Het
Or4k1	T	C	14: 50,377,803 (GRCm39)	M98V	probably benign	Het
Pcdhga8	T	C	18: 37,860,470 (GRCm39)	S509P	probably benign	Het
Pdzd2	A	G	15: 12,374,102 (GRCm39)	L2011S	probably benign	Het
Pole	T	A	5: 110,478,907 (GRCm39)	S1930T	probably benign	Het
Poteg	T	A	8: 27,952,052 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,372,920 (GRCm39)	C724S	probably damaging	Het
Rabgap1l	T	C	1: 160,509,673 (GRCm39)	E468G	probably benign	Het
Rbm12b1	G	T	4: 12,145,954 (GRCm39)	R642L	probably benign	Het
Relch	T	C	1: 105,658,986 (GRCm39)	V914A	probably damaging	Het
S1pr4	A	T	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Sim2	A	G	16: 93,915,819 (GRCm39)	I261V	probably benign	Het
Slc22a12	C	A	19: 6,587,199 (GRCm39)	A448S	probably benign	Het
Slc4a2	A	G	5: 24,636,666 (GRCm39)		probably null	Het
Slc6a7	T	C	18: 61,133,495 (GRCm39)	E567G	possibly damaging	Het
St6gal1	T	C	16: 23,139,785 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,920,546 (GRCm39)	K550R	probably benign	Het
Tekt1	T	A	11: 72,250,544 (GRCm39)	T51S	probably benign	Het
Tm9sf4	T	A	2: 153,050,663 (GRCm39)	V640E	probably damaging	Het
Tnfsf8	G	T	4: 63,752,683 (GRCm39)	H127Q	possibly damaging	Het
Tomm20	A	G	8: 127,666,633 (GRCm39)	L80S	probably damaging	Het
Top2a	T	C	11: 98,884,640 (GRCm39)	D1526G	probably benign	Het
Trmt1l	T	C	1: 151,316,639 (GRCm39)	V200A	possibly damaging	Het
Trpa1	A	G	1: 14,982,625 (GRCm39)	V77A	possibly damaging	Het
Vmn2r12	A	T	5: 109,239,615 (GRCm39)	V316D	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Zfp2	T	C	11: 50,791,605 (GRCm39)	H146R	probably damaging	Het
Zfp52	T	C	17: 21,781,252 (GRCm39)	S367P	probably damaging	Het

Other mutations in Or4k52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Or4k52	APN	2	111,611,246 (GRCm39)	missense	possibly damaging	0.80
IGL01604:Or4k52	APN	2	111,610,935 (GRCm39)	missense	possibly damaging	0.60
IGL02959:Or4k52	APN	2	111,610,955 (GRCm39)	missense	probably damaging	1.00
IGL02975:Or4k52	APN	2	111,611,266 (GRCm39)	nonsense	probably null
IGL03357:Or4k52	APN	2	111,610,871 (GRCm39)	missense	probably benign	0.01
R0245:Or4k52	UTSW	2	111,610,680 (GRCm39)	missense	probably damaging	1.00
R1522:Or4k52	UTSW	2	111,610,693 (GRCm39)	splice site	probably null
R2126:Or4k52	UTSW	2	111,610,841 (GRCm39)	missense	probably damaging	0.99
R2432:Or4k52	UTSW	2	111,611,016 (GRCm39)	missense	probably benign	0.01
R4780:Or4k52	UTSW	2	111,611,190 (GRCm39)	missense	probably damaging	1.00
R5260:Or4k52	UTSW	2	111,611,526 (GRCm39)	missense	probably damaging	1.00
R5517:Or4k52	UTSW	2	111,610,804 (GRCm39)	missense	probably benign
R6273:Or4k52	UTSW	2	111,611,567 (GRCm39)	missense	probably benign	0.00
R7315:Or4k52	UTSW	2	111,611,004 (GRCm39)	missense	probably damaging	0.96
R8742:Or4k52	UTSW	2	111,610,910 (GRCm39)	missense	probably benign	0.03
R8891:Or4k52	UTSW	2	111,611,186 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGGTGCCGATGTTAACTTAC -3'
(R):5'- TCTCCTGCAGCAATGCAATG -3'

Sequencing Primer
(F):5'- AGGTGCCGATGTTAACTTACAATGTG -3'
(R):5'- CAAAGAAGACCTGGGACATGC -3'

Posted On

2019-11-26