Mutagenetix > Incidental Mutation

Incidental Mutation 'R9045:Or52ab4'

687988

Institutional Source

Beutler Lab

Gene Symbol

Or52ab4

Ensembl Gene

ENSMUSG00000073950

Gene Name

olfactory receptor family 52 subfamily AB member 4

Synonyms

Olfr599, MOR23-1, GA_x6K02T2PBJ9-6047402-6048349

MMRRC Submission

068872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9045 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102987219-102988268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102987903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 214 (I214R)

Ref Sequence

ENSEMBL: ENSMUSP00000149281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329] [ENSMUST00000215042]

AlphaFold

Q8VG01

Predicted Effect

probably damaging
Transcript: ENSMUST00000098201
AA Change: I214R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: I214R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.8e-94	PFAM
Pfam:7TM_GPCR_Srsx	37	308	1.2e-6	PFAM
Pfam:7tm_1	43	293	2.1e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214329
AA Change: I214R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000215042

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

100% (66/66)

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
5930422O12Rik	A	C	8: 33,919,362 (GRCm39)	M61L		Het
9130401M01Rik	G	T	15: 57,892,130 (GRCm39)	A223E	possibly damaging	Het
Adgra1	T	G	7: 139,432,566 (GRCm39)	L135V	possibly damaging	Het
Aida	A	G	1: 183,094,940 (GRCm39)	E127G	possibly damaging	Het
Ankrd31	T	A	13: 96,968,034 (GRCm39)	L557*	probably null	Het
Atxn7l3	T	A	11: 102,183,272 (GRCm39)	T221S	probably damaging	Het
Bbs7	A	G	3: 36,666,184 (GRCm39)	S27P	probably benign	Het
Cela3b	A	T	4: 137,152,110 (GRCm39)	C116S	possibly damaging	Het
Clstn3	A	C	6: 124,408,921 (GRCm39)	M909R	probably damaging	Het
Cnot2	T	C	10: 116,322,160 (GRCm39)	E523G	probably benign	Het
Col12a1	T	A	9: 79,582,034 (GRCm39)	T1406S	probably benign	Het
Cr2	A	T	1: 194,837,680 (GRCm39)	N763K	possibly damaging	Het
Csmd1	A	G	8: 16,284,088 (GRCm39)	F557L	probably damaging	Het
Cyth1	T	C	11: 118,073,090 (GRCm39)	H270R	possibly damaging	Het
Epg5	T	C	18: 77,992,014 (GRCm39)	L237P	probably damaging	Het
Fbxo36	G	A	1: 84,874,300 (GRCm39)	D99N	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,856 (GRCm39)	C1607S	probably damaging	Het
Flot2	A	G	11: 77,950,023 (GRCm39)	I417M	probably benign	Het
Fryl	A	G	5: 73,182,118 (GRCm39)	L143P		Het
Gckr	A	G	5: 31,457,353 (GRCm39)	N122S	possibly damaging	Het
Gm3250	T	A	10: 77,617,932 (GRCm39)	T149S	unknown	Het
Golga3	G	A	5: 110,340,963 (GRCm39)	M552I	probably benign	Het
Grip1	T	A	10: 119,871,356 (GRCm39)	D694E	probably damaging	Het
Heatr1	T	C	13: 12,428,233 (GRCm39)	V790A	probably benign	Het
Ighv1-54	G	A	12: 115,157,500 (GRCm39)	T49I	probably benign	Het
Iglv1	A	G	16: 18,904,053 (GRCm39)	V22A	probably benign	Het
Lama1	A	T	17: 68,060,838 (GRCm39)	Y722F		Het
Laptm5	A	T	4: 130,655,955 (GRCm39)	E91V		Het
Lrig1	A	G	6: 94,585,688 (GRCm39)		probably null	Het
Mcph1	T	G	8: 18,682,443 (GRCm39)	S527A	probably benign	Het
Med13l	G	T	5: 118,880,816 (GRCm39)	V1303L	probably benign	Het
Mindy4	A	G	6: 55,295,283 (GRCm39)	D741G	probably benign	Het
Myo15b	T	A	11: 115,783,178 (GRCm39)	*3034R	probably null	Het
Nfkbie	A	T	17: 45,872,959 (GRCm39)	K354I	probably damaging	Het
Npat	A	G	9: 53,474,776 (GRCm39)	N856S	possibly damaging	Het
Nr2c2ap	A	G	8: 70,585,808 (GRCm39)	D122G	probably damaging	Het
Nr4a3	C	A	4: 48,067,694 (GRCm39)	T430K	possibly damaging	Het
Or12e10	C	A	2: 87,640,416 (GRCm39)	S84Y	probably damaging	Het
Or5h25	A	G	16: 58,930,365 (GRCm39)	S203P	probably benign	Het
Otud7b	A	G	3: 96,059,895 (GRCm39)	K397E	probably benign	Het
Pafah1b3	G	T	7: 24,996,898 (GRCm39)		probably benign	Het
Pcdhgc3	G	T	18: 37,940,669 (GRCm39)	V357L	probably damaging	Het
Pde2a	A	G	7: 101,152,498 (GRCm39)	T354A	unknown	Het
Pira12	A	G	7: 3,897,547 (GRCm39)	I516T	possibly damaging	Het
Rbfa	T	C	18: 80,236,026 (GRCm39)	H241R	probably damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rps6ka1	C	T	4: 133,600,150 (GRCm39)		probably benign	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sbno1	A	G	5: 124,543,720 (GRCm39)	V273A	probably benign	Het
Scg3	T	C	9: 75,570,522 (GRCm39)	N344S	probably damaging	Het
Serpinb1c	C	G	13: 33,066,027 (GRCm39)	G306A	probably benign	Het
Sh2d6	C	T	6: 72,492,604 (GRCm39)	G206D	probably benign	Het
Slamf9	G	A	1: 172,304,938 (GRCm39)	S184N	probably damaging	Het
Slc50a1	T	C	3: 89,176,042 (GRCm39)	T168A	probably damaging	Het
Tas2r124	G	C	6: 132,732,034 (GRCm39)	W114C	probably damaging	Het
Tgm4	C	T	9: 122,877,616 (GRCm39)	T206I	possibly damaging	Het
Tmem52	A	G	4: 155,553,899 (GRCm39)		probably null	Het
Vmn2r102	A	G	17: 19,880,841 (GRCm39)	K61E	probably benign	Het
Vmn2r58	T	C	7: 41,487,087 (GRCm39)	I603V	probably benign	Het
Vstm2l	G	T	2: 157,756,795 (GRCm39)	G22V	unknown	Het
Vwa5b1	T	A	4: 138,315,990 (GRCm39)	Y584F	probably damaging	Het
Wdfy3	A	T	5: 101,995,040 (GRCm39)	V3233D	probably damaging	Het
Wdhd1	A	G	14: 47,511,409 (GRCm39)	V101A	probably benign	Het
Zfc3h1	C	A	10: 115,263,319 (GRCm39)	Q1761K	possibly damaging	Het
Zfp180	G	A	7: 23,804,315 (GRCm39)	V245I	probably benign	Het
Zfp846	A	T	9: 20,505,189 (GRCm39)	I350L	probably benign	Het

Other mutations in Or52ab4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Or52ab4	APN	7	102,987,974 (GRCm39)	nonsense	probably null
IGL01744:Or52ab4	APN	7	102,987,435 (GRCm39)	missense	probably damaging	0.98
IGL02011:Or52ab4	APN	7	102,988,056 (GRCm39)	missense	probably damaging	0.98
IGL02328:Or52ab4	APN	7	102,987,497 (GRCm39)	missense	probably damaging	1.00
IGL02630:Or52ab4	APN	7	102,987,636 (GRCm39)	missense	probably damaging	1.00
IGL03119:Or52ab4	APN	7	102,987,929 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Or52ab4	UTSW	7	102,987,807 (GRCm39)	missense	probably damaging	1.00
R0599:Or52ab4	UTSW	7	102,987,393 (GRCm39)	missense	probably damaging	1.00
R4084:Or52ab4	UTSW	7	102,987,527 (GRCm39)	missense	probably damaging	0.99
R5068:Or52ab4	UTSW	7	102,987,229 (GRCm39)	start gained	probably null
R5069:Or52ab4	UTSW	7	102,987,229 (GRCm39)	start gained	probably null
R5280:Or52ab4	UTSW	7	102,987,708 (GRCm39)	missense	probably benign
R5816:Or52ab4	UTSW	7	102,988,202 (GRCm39)	missense	probably benign	0.00
R6560:Or52ab4	UTSW	7	102,987,945 (GRCm39)	missense	probably benign	0.02
R7001:Or52ab4	UTSW	7	102,987,428 (GRCm39)	missense	possibly damaging	0.51
R7890:Or52ab4	UTSW	7	102,987,537 (GRCm39)	missense	probably benign
R8295:Or52ab4	UTSW	7	102,987,474 (GRCm39)	missense	probably benign	0.08
R8430:Or52ab4	UTSW	7	102,988,164 (GRCm39)	missense	probably benign	0.01
R8946:Or52ab4	UTSW	7	102,987,573 (GRCm39)	missense	probably damaging	1.00
R9402:Or52ab4	UTSW	7	102,988,196 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCGGGCAACTGTACTCGTTG -3'
(R):5'- ATACACAATGGGGTTAAGGGCC -3'

Sequencing Primer
(F):5'- CAACTGTACTCGTTGGGGTTTTACC -3'
(R):5'- TGTGGACATACGGTGATACG -3'

Posted On

2021-11-19