Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Or52n3'

489024

Institutional Source

Beutler Lab

Gene Symbol

Or52n3

Ensembl Gene

ENSMUSG00000073917

Gene Name

olfactory receptor family 52 subfamily N member 3

Synonyms

MOR34-7, Olfr665, GA_x6K02T2PBJ9-7509539-7510489

MMRRC Submission

044295-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6148 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104529916-104530866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104530289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 125 (Y125C)

Ref Sequence

ENSEMBL: ENSMUSP00000150229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098165] [ENSMUST00000215761] [ENSMUST00000216257] [ENSMUST00000216971]

AlphaFold

Q8VG79

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098165
AA Change: Y125C

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095768
Gene: ENSMUSG00000073917
AA Change: Y125C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	6.4e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1e-5	PFAM
Pfam:7tm_1	43	295	1.4e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215761
AA Change: Y125C

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216257
AA Change: Y125C

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216971
AA Change: Y125C

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	Het

Other mutations in Or52n3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Or52n3	APN	7	104,530,724 (GRCm39)	missense	probably benign	0.01
IGL01408:Or52n3	APN	7	104,530,037 (GRCm39)	missense	probably benign	0.02
IGL02022:Or52n3	APN	7	104,530,141 (GRCm39)	missense	probably damaging	1.00
R0349:Or52n3	UTSW	7	104,530,199 (GRCm39)	missense	possibly damaging	0.48
R0585:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R1518:Or52n3	UTSW	7	104,530,515 (GRCm39)	nonsense	probably null
R1659:Or52n3	UTSW	7	104,530,387 (GRCm39)	missense	probably benign	0.00
R1727:Or52n3	UTSW	7	104,530,721 (GRCm39)	missense	probably benign	0.11
R1762:Or52n3	UTSW	7	104,530,447 (GRCm39)	missense	probably damaging	0.99
R4052:Or52n3	UTSW	7	104,530,810 (GRCm39)	missense	probably damaging	0.99
R4208:Or52n3	UTSW	7	104,530,810 (GRCm39)	missense	probably damaging	0.99
R5486:Or52n3	UTSW	7	104,530,168 (GRCm39)	missense	probably benign	0.02
R5513:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R6593:Or52n3	UTSW	7	104,530,640 (GRCm39)	missense	probably damaging	1.00
R7143:Or52n3	UTSW	7	104,530,393 (GRCm39)	missense	probably damaging	1.00
R7189:Or52n3	UTSW	7	104,530,348 (GRCm39)	nonsense	probably null
R7413:Or52n3	UTSW	7	104,530,057 (GRCm39)	missense	probably benign	0.07
R8690:Or52n3	UTSW	7	104,530,762 (GRCm39)	missense	probably damaging	1.00
R8819:Or52n3	UTSW	7	104,530,862 (GRCm39)	missense	possibly damaging	0.90
R8820:Or52n3	UTSW	7	104,530,862 (GRCm39)	missense	possibly damaging	0.90
R9430:Or52n3	UTSW	7	104,530,204 (GRCm39)	missense	possibly damaging	0.92
R9464:Or52n3	UTSW	7	104,530,050 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCATCAGTCATGAGGAGGCTC -3'
(R):5'- GTGATCACAATAGGTATGTTGGATGAG -3'

Sequencing Primer
(F):5'- AGTCATGAGGAGGCTCTGCAC -3'
(R):5'- GAGGTTTCCTCTACAGTATGGAAGAC -3'

Posted On

2017-10-10