Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Or52p2'

515695

Institutional Source

Beutler Lab

Gene Symbol

Or52p2

Ensembl Gene

ENSMUSG00000073974

Gene Name

olfactory receptor family 52 subfamily P member 2

Synonyms

Olfr551, MOR29-1, GA_x6K02T2PBJ9-5307445-5306498

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102236948-102238026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102237679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 90 (N90K)

Ref Sequence

ENSEMBL: ENSMUSP00000150582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098224] [ENSMUST00000213540]

AlphaFold

Q8VG23

Predicted Effect

probably benign
Transcript: ENSMUST00000098224
AA Change: N90K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: N90K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	2.8e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	152	2e-9	PFAM
Pfam:7tm_1	43	293	1.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213540
AA Change: N90K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

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
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably damaging	Het

Other mutations in Or52p2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01680:Or52p2	APN	7	102,237,436 (GRCm39)	nonsense	probably null
IGL03034:Or52p2	APN	7	102,237,147 (GRCm39)	missense	probably benign	0.42
IGL03076:Or52p2	APN	7	102,237,679 (GRCm39)	missense	probably benign
R0564:Or52p2	UTSW	7	102,237,738 (GRCm39)	missense	probably benign
R0890:Or52p2	UTSW	7	102,237,408 (GRCm39)	nonsense	probably null
R0909:Or52p2	UTSW	7	102,237,654 (GRCm39)	missense	probably damaging	1.00
R1053:Or52p2	UTSW	7	102,237,166 (GRCm39)	nonsense	probably null
R4708:Or52p2	UTSW	7	102,237,043 (GRCm39)	missense	probably benign	0.00
R4932:Or52p2	UTSW	7	102,237,623 (GRCm39)	missense	probably damaging	0.98
R6248:Or52p2	UTSW	7	102,237,237 (GRCm39)	missense	probably benign	0.00
R6343:Or52p2	UTSW	7	102,237,753 (GRCm39)	missense	probably damaging	0.98
R6455:Or52p2	UTSW	7	102,237,878 (GRCm39)	missense	probably benign	0.00
R7305:Or52p2	UTSW	7	102,237,162 (GRCm39)	missense	possibly damaging	0.94
R7638:Or52p2	UTSW	7	102,237,125 (GRCm39)	missense	probably damaging	0.98
R7743:Or52p2	UTSW	7	102,237,638 (GRCm39)	missense	probably benign	0.32
R7792:Or52p2	UTSW	7	102,238,090 (GRCm39)	start gained	probably benign
R8855:Or52p2	UTSW	7	102,237,945 (GRCm39)	missense	probably benign
Z1177:Or52p2	UTSW	7	102,237,929 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CTAACTTGCTCACAGACTCTGAG -3'
(R):5'- TTCCTGCTCATGGGGATTCC -3'

Sequencing Primer
(F):5'- TTGCTCACAGACTCTGAGGACAG -3'
(R):5'- CTGGAGGCGTCCCACTTTTG -3'

Posted On

2018-05-04