Mutagenetix > Incidental Mutation

Incidental Mutation 'R8298:Or5ap2'

639057

Institutional Source

Beutler Lab

Gene Symbol

Or5ap2

Ensembl Gene

ENSMUSG00000046975

Gene Name

olfactory receptor family 5 subfamily AP member 2

Synonyms

Olfr1020, MOR201-2, GA_x6K02T2Q125-47327964-47328917

MMRRC Submission

067786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85679764-85680842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85680533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 246 (S246P)

Ref Sequence

ENSEMBL: ENSMUSP00000058242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055840]

AlphaFold

Q8VFK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055840
AA Change: S246P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: S246P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	5.6e-55	PFAM
Pfam:7tm_1	48	297	1.4e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,586,695 (GRCm39)	L343P	probably benign	Het
Aak1	T	A	6: 86,902,061 (GRCm39)	F77I	possibly damaging	Het
Abca3	T	C	17: 24,604,375 (GRCm39)	L582P	probably damaging	Het
Acat1	A	T	9: 53,505,724 (GRCm39)	S136R	probably damaging	Het
Adamts2	T	C	11: 50,667,958 (GRCm39)	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,256,482 (GRCm39)	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,534,033 (GRCm39)	C5849*	probably null	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ak9	A	G	10: 41,265,054 (GRCm39)	E404G		Het
Akap13	T	C	7: 75,397,552 (GRCm39)	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Arv1	A	G	8: 125,455,111 (GRCm39)	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429 (GRCm39)	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,827,649 (GRCm39)	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,311,362 (GRCm39)	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,462,115 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,814,157 (GRCm39)	D1458G	probably benign	Het
Dock10	T	C	1: 80,514,654 (GRCm39)	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,057,112 (GRCm39)	D354N	probably damaging	Het
Epha3	T	A	16: 63,386,961 (GRCm39)	I892F	probably benign	Het
Evi5	G	A	5: 107,964,731 (GRCm39)	S317L	possibly damaging	Het
Evl	C	T	12: 108,619,232 (GRCm39)	P76S	probably benign	Het
Fyb2	A	C	4: 104,806,028 (GRCm39)	E369D	probably damaging	Het
Gm10000	T	C	12: 104,442,436 (GRCm39)		probably benign	Het
Gm1979	T	C	5: 26,206,148 (GRCm39)	N190S	probably damaging	Het
Gm3633	T	C	14: 42,462,675 (GRCm39)	E72G		Het
Gm5414	T	C	15: 101,532,605 (GRCm39)	Y506C	unknown	Het
Gm572	T	A	4: 148,742,550 (GRCm39)	H96Q	possibly damaging	Het
Gml	T	C	15: 74,685,541 (GRCm39)	E148G	probably damaging	Het
Got1l1	T	C	8: 27,688,586 (GRCm39)	D255G	probably benign	Het
Hydin	A	G	8: 111,327,015 (GRCm39)	N4785D	probably damaging	Het
Kcnk12	A	T	17: 88,104,713 (GRCm39)	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,186,429 (GRCm39)	G336C	probably damaging	Het
Kprp	T	C	3: 92,732,607 (GRCm39)	T148A	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,042,927 (GRCm39)	S41T	unknown	Het
Lnx2	A	T	5: 146,961,327 (GRCm39)	M535K	probably benign	Het
Mmp9	T	A	2: 164,792,279 (GRCm39)	F294L	probably null	Het
Myo7a	T	C	7: 97,747,541 (GRCm39)	Y97C	probably damaging	Het
Nav2	T	C	7: 49,204,009 (GRCm39)		probably null	Het
Ndufaf3	T	C	9: 108,444,120 (GRCm39)	T3A	probably benign	Het
Nrxn1	A	G	17: 91,011,597 (GRCm39)	I344T	probably damaging	Het
Or1j1	T	C	2: 36,703,038 (GRCm39)	E22G	probably benign	Het
Or5w14	A	T	2: 87,541,376 (GRCm39)	S291R	probably damaging	Het
Pccb	T	C	9: 100,867,885 (GRCm39)	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,623,852 (GRCm39)	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,009,618 (GRCm39)	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,844,994 (GRCm39)	M131V	probably benign	Het
Prmt3	A	G	7: 49,507,186 (GRCm39)	T517A	probably benign	Het
Prpf4b	A	G	13: 35,072,166 (GRCm39)	H491R	unknown	Het
Rhot1	T	A	11: 80,137,502 (GRCm39)	C335S	probably benign	Het
Robo1	C	T	16: 72,769,020 (GRCm39)		probably benign	Het
Samd3	A	T	10: 26,121,468 (GRCm39)	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,297,647 (GRCm39)	D208E	possibly damaging	Het
Spta1	A	T	1: 174,074,953 (GRCm39)	D2393V	probably damaging	Het
Tgs1	T	C	4: 3,605,840 (GRCm39)	L785P	probably damaging	Het
Tmem25	C	T	9: 44,710,116 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,038,753 (GRCm39)	Y780H	probably damaging	Het
Ttn	C	A	2: 76,557,511 (GRCm39)	W29861L	probably damaging	Het
Usp1	T	A	4: 98,819,136 (GRCm39)	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,911,148 (GRCm39)	I715T		Het
Zfp169	G	A	13: 48,651,853 (GRCm39)	Q68*	probably null	Het
Zfp418	T	A	7: 7,185,814 (GRCm39)	Y592*	probably null	Het
Zfp712	A	G	13: 67,188,976 (GRCm39)	V517A	probably benign	Het
Zfp934	A	T	13: 62,666,295 (GRCm39)	H146Q		Het
Zgrf1	T	C	3: 127,408,878 (GRCm39)	S1662P	probably damaging	Het

Other mutations in Or5ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02203:Or5ap2	APN	2	85,680,432 (GRCm39)	missense	probably damaging	1.00
R0419:Or5ap2	UTSW	2	85,680,311 (GRCm39)	nonsense	probably null
R0771:Or5ap2	UTSW	2	85,680,338 (GRCm39)	missense	possibly damaging	0.95
R2001:Or5ap2	UTSW	2	85,680,744 (GRCm39)	missense	probably benign	0.09
R2002:Or5ap2	UTSW	2	85,680,744 (GRCm39)	missense	probably benign	0.09
R4865:Or5ap2	UTSW	2	85,680,060 (GRCm39)	missense	probably damaging	1.00
R4930:Or5ap2	UTSW	2	85,680,237 (GRCm39)	missense	probably benign	0.00
R6717:Or5ap2	UTSW	2	85,680,567 (GRCm39)	missense	probably damaging	1.00
R7124:Or5ap2	UTSW	2	85,680,254 (GRCm39)	missense	probably benign	0.22
R8068:Or5ap2	UTSW	2	85,680,150 (GRCm39)	missense	probably damaging	1.00
R8676:Or5ap2	UTSW	2	85,680,246 (GRCm39)	missense	probably benign	0.03
R8927:Or5ap2	UTSW	2	85,679,918 (GRCm39)	missense	possibly damaging	0.91
R8928:Or5ap2	UTSW	2	85,679,918 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCAGACTGTCCTTTTGTGGC -3'
(R):5'- CCTTGCCTCAAACCACATAATTATG -3'

Sequencing Primer
(F):5'- ACTGTCCTTTTGTGGCTCTAATAAG -3'
(R):5'- CAGAGACAACTTTGTCCTGT -3'

Posted On

2020-07-28