Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Or52ab4'

681301

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

068784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102987219-102988268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102987573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 104 (F104S)

Ref Sequence

ENSEMBL: ENSMUSP00000149281 (fasta)

Gene Model

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

AlphaFold

Q8VG01

Predicted Effect

probably damaging
Transcript: ENSMUST00000098201
AA Change: F104S

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

SMART Domains

Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: F104S

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: F104S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

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
Akap12	A	G	10: 4,304,368 (GRCm39)	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,430,083 (GRCm39)	F862L	probably damaging	Het
Ankrd31	T	C	13: 97,046,037 (GRCm39)	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,894 (GRCm39)	T288A	probably benign	Het
Aox1	T	C	1: 58,145,227 (GRCm39)	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,146,601 (GRCm39)	L231P	probably damaging	Het
C1qtnf12	T	C	4: 156,050,882 (GRCm39)	F284L	probably damaging	Het
Caprin1	A	T	2: 103,608,378 (GRCm39)	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 126,793,923 (GRCm39)	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,024,738 (GRCm39)		probably benign	Het
Ceacam14	A	G	7: 17,547,999 (GRCm39)	I30V	probably benign	Het
Chchd1	T	A	14: 20,753,385 (GRCm39)	*56R	probably null	Het
Ckap5	A	G	2: 91,409,861 (GRCm39)	T948A	probably benign	Het
Clec12a	A	T	6: 129,340,949 (GRCm39)	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,270,757 (GRCm39)	M462V	probably benign	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Csnka2ip	T	C	16: 64,300,667 (GRCm39)		probably benign	Het
D130040H23Rik	C	A	8: 69,755,033 (GRCm39)	T146N	possibly damaging	Het
Dennd5b	T	C	6: 148,943,485 (GRCm39)		probably benign	Het
Fanci	A	G	7: 79,045,726 (GRCm39)	T23A	probably benign	Het
Fmnl1	T	C	11: 103,071,741 (GRCm39)	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,770,075 (GRCm39)	T289N	probably benign	Het
Gcn1	A	G	5: 115,733,404 (GRCm39)	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Gnl1	T	C	17: 36,294,479 (GRCm39)	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,245,161 (GRCm39)	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,719,485 (GRCm39)	D397E	possibly damaging	Het
Ints15	C	G	5: 143,300,795 (GRCm39)	E19Q	probably benign	Het
Intu	C	T	3: 40,637,789 (GRCm39)	A425V	possibly damaging	Het
Irag1	A	T	7: 110,477,347 (GRCm39)		probably null	Het
Jakmip1	G	A	5: 37,343,084 (GRCm39)		probably null	Het
Lif	C	A	11: 4,219,225 (GRCm39)	P168Q	possibly damaging	Het
Myh11	A	C	16: 14,048,580 (GRCm39)	S576A	probably benign	Het
Neb	A	G	2: 52,041,425 (GRCm39)	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,162,625 (GRCm39)	N368S	probably damaging	Het
Npsr1	G	A	9: 24,224,525 (GRCm39)	V148I	probably benign	Het
Or51f1	C	A	7: 102,505,725 (GRCm39)	G255*	probably null	Het
Or56a5	T	A	7: 104,792,832 (GRCm39)	I223F	probably damaging	Het
Or5b111	A	T	19: 13,291,502 (GRCm39)	L49Q	probably damaging	Het
Or7e166	C	T	9: 19,624,885 (GRCm39)	T254I	probably damaging	Het
Patz1	T	C	11: 3,241,856 (GRCm39)	C415R	probably damaging	Het
Pcdha9	A	T	18: 37,131,546 (GRCm39)	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,899,711 (GRCm39)	E181V	probably benign	Het
Pcnx1	T	C	12: 82,018,158 (GRCm39)	Y1333H	probably damaging	Het
Phf7	A	T	14: 30,970,106 (GRCm39)		probably benign	Het
Pomc	T	G	12: 4,010,298 (GRCm39)	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,288,536 (GRCm39)		probably null	Het
Prrc2c	A	T	1: 162,536,478 (GRCm39)		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,229,113 (GRCm39)		probably benign	Het
Semp2l1	C	T	1: 32,585,685 (GRCm39)	R75Q	probably benign	Het
Senp1	T	C	15: 97,940,782 (GRCm39)	K664E	probably damaging	Het
Skint7	A	G	4: 111,839,198 (GRCm39)	N164S	possibly damaging	Het
Smg1	C	A	7: 117,751,900 (GRCm39)	R2775M	probably null	Het
Snrnp27	C	T	6: 86,653,226 (GRCm39)	V131M	probably damaging	Het
Spire1	C	A	18: 67,629,686 (GRCm39)	R357L	probably damaging	Het
Sspo	G	A	6: 48,434,071 (GRCm39)	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,568,458 (GRCm39)	H335R	probably damaging	Het
Stard13	C	T	5: 150,984,267 (GRCm39)	R623H	probably damaging	Het
Syde1	T	A	10: 78,424,683 (GRCm39)	E383V	probably damaging	Het
Taf10	A	G	7: 105,393,524 (GRCm39)	M1T	probably null	Het
Traf3ip3	A	G	1: 192,869,415 (GRCm39)	C257R	probably damaging	Het
Trpm8	G	A	1: 88,276,061 (GRCm39)		probably benign	Het
Veph1	A	G	3: 66,171,301 (GRCm39)		probably null	Het
Vmn1r169	A	T	7: 23,276,640 (GRCm39)	T11S	possibly damaging	Het
Wdhd1	A	T	14: 47,482,752 (GRCm39)	S961T	probably benign	Het
Zfp773	T	C	7: 7,135,469 (GRCm39)	T376A	possibly damaging	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
R9045:Or52ab4	UTSW	7	102,987,903 (GRCm39)	missense	probably damaging	0.99
R9402:Or52ab4	UTSW	7	102,988,196 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTGATTGGCATCCCTGG -3'
(R):5'- ACCCCAACGAGTACAGTTGC -3'

Sequencing Primer
(F):5'- ATCCCTGGACTGGAGCATGTG -3'
(R):5'- AGTACAGTTGCCCGAATTGC -3'

Posted On

2021-08-31