Mutagenetix > Incidental Mutation

Incidental Mutation 'R4845:Or52n5'

372111

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

042458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104587735-104588688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104588570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000150928 (fasta)

Gene Model

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

AlphaFold

Q8VGU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098164
AA Change: V279A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: V279A

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

possibly damaging
Transcript: ENSMUST00000210138
AA Change: V279A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211559

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214260
AA Change: V279A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,333,057 (GRCm39)	S600F	possibly damaging	Het
Arhgap21	T	A	2: 20,885,998 (GRCm39)	N393I	probably damaging	Het
Atp5pf	T	A	16: 84,628,365 (GRCm39)	I6F	possibly damaging	Het
B4galt6	A	G	18: 20,821,517 (GRCm39)	L337S	probably benign	Het
C8b	G	T	4: 104,649,009 (GRCm39)	V308F	possibly damaging	Het
Cables1	A	G	18: 12,077,545 (GRCm39)	R558G	probably damaging	Het
Chmp2b	T	A	16: 65,347,862 (GRCm39)	Q38L	probably damaging	Het
Clca3b	A	T	3: 144,531,031 (GRCm39)	I773K	probably benign	Het
Cnmd	T	C	14: 79,899,448 (GRCm39)	T2A	probably benign	Het
Crb1	C	T	1: 139,170,772 (GRCm39)	D812N	probably benign	Het
Dnah7c	T	A	1: 46,832,692 (GRCm39)	D3901E	probably damaging	Het
Dst	T	C	1: 34,232,208 (GRCm39)	V3445A	probably benign	Het
Epn1	T	A	7: 5,096,908 (GRCm39)	I230N	possibly damaging	Het
Exoc6b	G	T	6: 84,812,119 (GRCm39)	D627E	probably benign	Het
Exosc1	T	C	19: 41,919,797 (GRCm39)	K74E	possibly damaging	Het
Extl3	T	C	14: 65,315,024 (GRCm39)	T53A	probably benign	Het
Fam227a	C	T	15: 79,533,912 (GRCm39)	R17H	probably damaging	Het
Faxc	G	T	4: 21,993,358 (GRCm39)	W334L	probably damaging	Het
Gabrr3	T	C	16: 59,246,833 (GRCm39)	I94T	probably damaging	Het
Ifi203	A	T	1: 173,754,595 (GRCm39)	M298K	probably benign	Het
Igkv4-78	A	T	6: 69,037,207 (GRCm39)	M1K	probably null	Het
Iqcm	G	T	8: 76,472,980 (GRCm39)	R273I	probably damaging	Het
Itga1	G	T	13: 115,110,708 (GRCm39)	S961*	probably null	Het
Jmy	T	A	13: 93,576,246 (GRCm39)	M886L	possibly damaging	Het
Lrp2	T	C	2: 69,339,585 (GRCm39)	T1109A	possibly damaging	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Mettl14	T	A	3: 123,165,004 (GRCm39)	E112V	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Musk	A	G	4: 58,296,679 (GRCm39)	D93G	probably damaging	Het
Myoc	C	T	1: 162,475,034 (GRCm39)	T195M	possibly damaging	Het
Ncapg2	A	G	12: 116,404,208 (GRCm39)	D893G	probably damaging	Het
Nrap	C	T	19: 56,339,902 (GRCm39)	V908M	probably benign	Het
Or4a79	T	C	2: 89,552,120 (GRCm39)	I112V	probably benign	Het
Or5g9	T	A	2: 85,551,836 (GRCm39)	L29*	probably null	Het
Orc4	T	C	2: 48,799,478 (GRCm39)	N333S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	G	A	18: 37,489,771 (GRCm39)	G483D	probably benign	Het
Pclo	A	T	5: 14,729,132 (GRCm39)		probably benign	Het
Ppm1k	A	T	6: 57,499,753 (GRCm39)	Y174*	probably null	Het
Ptprq	A	T	10: 107,489,393 (GRCm39)	S911T	probably benign	Het
Rp1	C	A	1: 4,419,451 (GRCm39)	A554S	probably benign	Het
Sema3f	T	C	9: 107,562,700 (GRCm39)	Y427C	probably damaging	Het
Slc12a1	A	T	2: 125,030,146 (GRCm39)	I573F	probably damaging	Het
Slc17a1	A	T	13: 24,060,601 (GRCm39)	Y201F	probably damaging	Het
Slc4a7	A	T	14: 14,733,803 (GRCm38)	H71L	probably damaging	Het
Spata6l	G	T	19: 28,905,148 (GRCm39)	D305E	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Tab1	C	T	15: 80,036,964 (GRCm39)	R217W	probably damaging	Het
Taf6	T	A	5: 138,180,909 (GRCm39)	Y224F	possibly damaging	Het
Tmc5	C	G	7: 118,241,604 (GRCm39)	F432L	probably damaging	Het
Trbc1	A	T	6: 41,516,169 (GRCm39)		probably benign	Het
Trbv21	A	G	6: 41,179,879 (GRCm39)	N65S	probably benign	Het
Trim15	G	A	17: 37,177,875 (GRCm39)	P40L	probably benign	Het
Txnip	T	C	3: 96,466,916 (GRCm39)	S197P	probably benign	Het
Vmn1r167	T	A	7: 23,204,158 (GRCm39)	Q286L	probably benign	Het
Wnt9a	A	G	11: 59,222,067 (GRCm39)	I322V	probably benign	Het
Zfp879	T	C	11: 50,724,672 (GRCm39)	E128G	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
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
R9356:Or52n5	UTSW	7	104,588,373 (GRCm39)	missense	probably benign	0.43
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'- TACACTATGATCCTCCGGGC -3'
(R):5'- CAAATTTTCCTCAACATTCTTGGGC -3'

Sequencing Primer
(F):5'- TATGATCCTCCGGGCAGTGG -3'
(R):5'- CTTGAAGAGGTAATGAAAAACACTCC -3'

Posted On

2016-03-01