Mutagenetix > Incidental Mutation

Incidental Mutation 'R9558:Or52n5'

720862

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 #

R9558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104587735-104588688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104588615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 294 (V294A)

Ref Sequence

ENSEMBL: ENSMUSP00000147742 (fasta)

Gene Model

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

AlphaFold

Q8VGU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098164
AA Change: V294A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: V294A

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: V294A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214260
AA Change: V294A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,290,576 (GRCm39)	P126L	probably damaging	Het
Adh7	T	A	3: 137,932,043 (GRCm39)	I219N	probably damaging	Het
Ash1l	A	G	3: 88,889,521 (GRCm39)	S467G	probably benign	Het
Atm	T	C	9: 53,412,081 (GRCm39)	I992V	probably benign	Het
Bdnf	T	C	2: 109,539,999 (GRCm39)	V31A		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccnk	A	T	12: 108,155,397 (GRCm39)	K118I	possibly damaging	Het
Ccr2	T	A	9: 123,906,104 (GRCm39)	V128E	possibly damaging	Het
Cd163	C	A	6: 124,297,471 (GRCm39)	N872K	probably benign	Het
Cd38	A	G	5: 44,057,792 (GRCm39)	I121M	probably damaging	Het
Cntnap5c	A	T	17: 58,671,157 (GRCm39)		probably null	Het
Cyp11b1	T	C	15: 74,710,789 (GRCm39)	E257G	probably benign	Het
Cyp2d40	T	C	15: 82,645,667 (GRCm39)	T113A	unknown	Het
Ddx23	A	G	15: 98,545,433 (GRCm39)	V625A	possibly damaging	Het
Dnaaf9	T	C	2: 130,617,660 (GRCm39)	N433D	probably damaging	Het
Fbxw17	T	C	13: 50,577,311 (GRCm39)	Y68H	probably damaging	Het
Fignl1	C	T	11: 11,751,778 (GRCm39)	V426I	possibly damaging	Het
Ggn	C	G	7: 28,871,973 (GRCm39)	P487R	probably damaging	Het
Gjb6	G	A	14: 57,362,261 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,576,014 (GRCm39)	F2L	possibly damaging	Het
Il1r2	A	G	1: 40,162,422 (GRCm39)	E355G	probably damaging	Het
Itprid1	T	A	6: 55,944,969 (GRCm39)	H563Q	possibly damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Lama1	A	G	17: 68,124,004 (GRCm39)	T2810A		Het
Ltn1	A	T	16: 87,220,295 (GRCm39)	S267R	probably benign	Het
Mapre2	T	A	18: 23,991,195 (GRCm39)	H196Q	possibly damaging	Het
Mfap4	A	C	11: 61,376,965 (GRCm39)	S65R	probably benign	Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh3	T	A	11: 66,983,316 (GRCm39)	C948S	possibly damaging	Het
Ndufa8	A	G	2: 35,926,605 (GRCm39)	S144P	probably benign	Het
Nudc	G	A	4: 133,260,776 (GRCm39)	R257C	probably benign	Het
Nufip1	A	G	14: 76,348,481 (GRCm39)	M37V	probably benign	Het
Ogn	A	G	13: 49,764,783 (GRCm39)	E61G	probably benign	Het
Pcdh8	A	G	14: 80,006,380 (GRCm39)	S728P	probably damaging	Het
Pdzrn4	A	G	15: 92,299,877 (GRCm39)	D249G	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Setd2	C	T	9: 110,376,628 (GRCm39)	H148Y	probably damaging	Het
Smok2b	G	A	17: 13,453,884 (GRCm39)	G15R	probably damaging	Het
Sun1	A	G	5: 139,211,019 (GRCm39)	T91A	probably benign	Het
Tbc1d31	G	A	15: 57,795,988 (GRCm39)	A194T	probably damaging	Het
Tiparp	C	T	3: 65,438,852 (GRCm39)	S56F	possibly damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Trip6	A	G	5: 137,309,075 (GRCm39)	S344P	probably benign	Het
Ube2q1	A	G	3: 89,686,766 (GRCm39)	K207E	probably benign	Het
Ubr2	A	G	17: 47,262,843 (GRCm39)	V1256A	probably benign	Het
Vmn1r69	T	A	7: 10,314,185 (GRCm39)	Y182F	probably benign	Het
Wipf1	C	A	2: 73,268,020 (GRCm39)	R126L	probably damaging	Het
Zc3hav1	T	C	6: 38,331,042 (GRCm39)	E39G	possibly 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
R9356:Or52n5	UTSW	7	104,588,373 (GRCm39)	missense	probably benign	0.43
R9607:Or52n5	UTSW	7	104,588,207 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTCCTACACTATGATCCTCCGG -3'
(R):5'- CAAATTTTCCTCAACATTCTTGGGC -3'

Sequencing Primer
(F):5'- ACTATGATCCTCCGGGCAGTG -3'
(R):5'- CTTGGGCATCTTTAAAATGGATAGTC -3'

Posted On

2022-08-09