Mutagenetix > Incidental Mutation

Incidental Mutation 'R9356:Or52n5'

708419

Institutional Source

Beutler Lab

Gene Symbol

Or52n5

Ensembl Gene

ENSMUSG00000073916

Gene Name

olfactory receptor family 52 subfamily N member 5

Synonyms

GA_x6K02T2PBJ9-7567376-7568329, Olfr669, MOR34-6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R9356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104587735-104588688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104588373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 213 (I213M)

Ref Sequence

ENSEMBL: ENSMUSP00000147742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098164] [ENSMUST00000210138] [ENSMUST00000214260]

AlphaFold

Q8VGU9

Predicted Effect

probably benign
Transcript: ENSMUST00000098164
AA Change: I213M

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: I213M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	8.7e-103	PFAM
Pfam:7TM_GPCR_Srsx	37	209	1.9e-10	PFAM
Pfam:7tm_1	43	295	2.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210138
AA Change: I213M

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000214260
AA Change: I213M

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,206,305 (GRCm39)	V202M	probably benign	Het
Ago3	A	T	4: 126,264,144 (GRCm39)	I354N	probably damaging	Het
Ankrd50	A	T	3: 38,510,236 (GRCm39)	D710E	probably damaging	Het
Apba2	A	T	7: 64,345,421 (GRCm39)	N204Y	probably damaging	Het
Arrdc4	A	G	7: 68,394,627 (GRCm39)	V139A	possibly damaging	Het
Baz1b	A	G	5: 135,239,653 (GRCm39)	E251G	probably benign	Het
Calcr	T	C	6: 3,687,408 (GRCm39)	D530G	probably benign	Het
Chrna7	A	T	7: 62,757,437 (GRCm39)	V154E	probably damaging	Het
Cldn15	T	C	5: 136,996,968 (GRCm39)	V3A	probably benign	Het
Csmd1	A	T	8: 16,252,069 (GRCm39)	L929Q	probably damaging	Het
Ctss	A	C	3: 95,454,120 (GRCm39)	H224P	possibly damaging	Het
Cyp4a12a	C	A	4: 115,185,915 (GRCm39)	H408N	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpr162	T	C	6: 124,838,297 (GRCm39)	M118V	possibly damaging	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Igfn1	A	T	1: 135,899,825 (GRCm39)	C495*	probably null	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Jmjd4	T	A	11: 59,345,761 (GRCm39)	D280E	probably benign	Het
Krtap1-4	G	A	11: 99,474,169 (GRCm39)	Q96*	probably null	Het
Ksr2	T	A	5: 117,827,706 (GRCm39)	I495N	probably benign	Het
Lama2	T	A	10: 27,088,186 (GRCm39)	N864Y	probably damaging	Het
Lce1f	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	3: 92,626,272 (GRCm39)		probably benign	Het
Lig4	A	G	8: 10,022,538 (GRCm39)	V414A	possibly damaging	Het
Lman2l	A	G	1: 36,467,415 (GRCm39)	F211S	probably damaging	Het
Lmtk3	A	G	7: 45,443,312 (GRCm39)	E665G	probably damaging	Het
Mdm4	G	A	1: 132,938,837 (GRCm39)	L86F	probably damaging	Het
Mfsd10	C	A	5: 34,794,048 (GRCm39)	E22*	probably null	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mroh4	T	C	15: 74,482,760 (GRCm39)	M735V	probably benign	Het
Myo7a	T	A	7: 97,725,873 (GRCm39)	M1060L	probably benign	Het
Myo7b	C	A	18: 32,110,096 (GRCm39)	S1122I	probably damaging	Het
Nudt17	T	A	3: 96,613,688 (GRCm39)	R313S	probably damaging	Het
Or5w15	T	A	2: 87,568,089 (GRCm39)	Q193L	probably benign	Het
Or6c65	T	G	10: 129,604,035 (GRCm39)	I223M	possibly damaging	Het
Or8h7	T	A	2: 86,720,605 (GRCm39)	M305L	probably benign	Het
Otogl	T	C	10: 107,617,890 (GRCm39)	Y1741C	probably damaging	Het
Pja2	A	G	17: 64,618,204 (GRCm39)	V65A	probably damaging	Het
Primpol	A	G	8: 47,043,318 (GRCm39)	V325A	probably benign	Het
Prss36	T	C	7: 127,545,697 (GRCm39)		probably benign	Het
Ptpn20	T	G	14: 33,352,865 (GRCm39)	Y201*	probably null	Het
Rundc3a	T	C	11: 102,292,890 (GRCm39)	S428P	probably damaging	Het
Rxra	T	A	2: 27,649,675 (GRCm39)	L460Q	probably damaging	Het
Sdsl	C	T	5: 120,597,948 (GRCm39)	V182M	probably damaging	Het
Slc14a2	A	C	18: 78,227,823 (GRCm39)	I226S	probably null	Het
Spam1	T	A	6: 24,800,565 (GRCm39)	C435S	probably damaging	Het
Spata31h1	T	C	10: 82,125,157 (GRCm39)	K2618E	possibly damaging	Het
Stbd1	A	G	5: 92,753,277 (GRCm39)	T256A	possibly damaging	Het
Ttc39c	T	A	18: 12,853,102 (GRCm39)		probably null	Het
Uba3	T	C	6: 97,161,811 (GRCm39)	D440G	probably benign	Het
Ythdf1	A	C	2: 180,553,998 (GRCm39)	S72R	probably benign	Het
Zfp770	T	C	2: 114,026,917 (GRCm39)	E384G	possibly damaging	Het
Zfp979	G	T	4: 147,698,358 (GRCm39)	T117K	probably damaging	Het

Other mutations in Or52n5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Or52n5	APN	7	104,588,198 (GRCm39)	missense	possibly damaging	0.88
IGL01677:Or52n5	APN	7	104,587,852 (GRCm39)	missense	probably benign	0.01
IGL01900:Or52n5	APN	7	104,588,369 (GRCm39)	missense	probably damaging	1.00
IGL02270:Or52n5	APN	7	104,588,576 (GRCm39)	missense	possibly damaging	0.95
R0482:Or52n5	UTSW	7	104,588,021 (GRCm39)	missense	possibly damaging	0.56
R0970:Or52n5	UTSW	7	104,588,284 (GRCm39)	missense	probably benign	0.05
R4260:Or52n5	UTSW	7	104,587,803 (GRCm39)	missense	probably damaging	0.99
R4845:Or52n5	UTSW	7	104,588,570 (GRCm39)	missense	possibly damaging	0.95
R4947:Or52n5	UTSW	7	104,587,949 (GRCm39)	missense	possibly damaging	0.95
R5438:Or52n5	UTSW	7	104,588,344 (GRCm39)	missense	probably benign	0.03
R5735:Or52n5	UTSW	7	104,587,966 (GRCm39)	missense	probably benign	0.01
R5943:Or52n5	UTSW	7	104,587,850 (GRCm39)	missense	possibly damaging	0.78
R6435:Or52n5	UTSW	7	104,588,041 (GRCm39)	missense	probably damaging	0.99
R6942:Or52n5	UTSW	7	104,588,104 (GRCm39)	missense	possibly damaging	0.56
R7061:Or52n5	UTSW	7	104,587,883 (GRCm39)	missense	probably damaging	1.00
R7122:Or52n5	UTSW	7	104,588,405 (GRCm39)	missense	probably damaging	0.99
R7378:Or52n5	UTSW	7	104,588,638 (GRCm39)	missense	probably benign	0.31
R7898:Or52n5	UTSW	7	104,588,573 (GRCm39)	missense	probably damaging	1.00
R8260:Or52n5	UTSW	7	104,587,879 (GRCm39)	missense	probably damaging	1.00
R8478:Or52n5	UTSW	7	104,588,477 (GRCm39)	missense	probably benign	0.00
R9289:Or52n5	UTSW	7	104,587,816 (GRCm39)	missense	probably damaging	1.00
R9558:Or52n5	UTSW	7	104,588,615 (GRCm39)	missense	possibly damaging	0.91
R9607:Or52n5	UTSW	7	104,588,207 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCTACCCACTACGCTATGC -3'
(R):5'- TGGTGTGACCTCCAAAACGATG -3'

Sequencing Primer
(F):5'- CTGTCATTGCCAAAGCTGG -3'
(R):5'- TGTGACCTCCAAAACGATGAGTAAAG -3'

Posted On

2022-04-18