Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Or52e4'

726734

Institutional Source

Beutler Lab

Gene Symbol

Or52e4

Ensembl Gene

ENSMUSG00000073914

Gene Name

olfactory receptor family 52 subfamily E member 4

Synonyms

Olfr677, GA_x6K02T2PBJ9-7685262-7686200, MOR32-11

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104705455-104706393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104706374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 307 (I307T)

Ref Sequence

ENSEMBL: ENSMUSP00000149888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098161] [ENSMUST00000213204]

AlphaFold

Q8VF06

Predicted Effect

probably benign
Transcript: ENSMUST00000098161
AA Change: I307T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000095764
Gene: ENSMUSG00000073914
AA Change: I307T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	7.6e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	308	4.8e-6	PFAM
Pfam:7tm_1	43	293	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213204
AA Change: I307T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	probably benign	Het

Other mutations in Or52e4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Or52e4	APN	7	104,706,152 (GRCm39)	missense	probably benign	0.10
IGL02351:Or52e4	APN	7	104,706,182 (GRCm39)	missense	probably damaging	0.98
IGL02358:Or52e4	APN	7	104,706,182 (GRCm39)	missense	probably damaging	0.98
IGL02696:Or52e4	APN	7	104,705,569 (GRCm39)	missense	probably benign	0.39
R0089:Or52e4	UTSW	7	104,706,297 (GRCm39)	nonsense	probably null
R0963:Or52e4	UTSW	7	104,706,179 (GRCm39)	missense	probably damaging	0.98
R1157:Or52e4	UTSW	7	104,706,091 (GRCm39)	missense	probably benign	0.01
R1719:Or52e4	UTSW	7	104,706,001 (GRCm39)	missense	probably damaging	0.97
R1998:Or52e4	UTSW	7	104,706,112 (GRCm39)	missense	probably benign	0.05
R2039:Or52e4	UTSW	7	104,705,597 (GRCm39)	missense	possibly damaging	0.75
R2180:Or52e4	UTSW	7	104,706,092 (GRCm39)	missense	probably benign	0.18
R2568:Or52e4	UTSW	7	104,705,878 (GRCm39)	missense	probably benign	0.00
R4700:Or52e4	UTSW	7	104,705,483 (GRCm39)	missense	possibly damaging	0.81
R4701:Or52e4	UTSW	7	104,706,086 (GRCm39)	missense	probably damaging	1.00
R4803:Or52e4	UTSW	7	104,705,863 (GRCm39)	missense	probably benign	0.39
R4888:Or52e4	UTSW	7	104,705,689 (GRCm39)	missense	possibly damaging	0.95
R5121:Or52e4	UTSW	7	104,705,689 (GRCm39)	missense	possibly damaging	0.95
R5190:Or52e4	UTSW	7	104,705,660 (GRCm39)	missense	probably damaging	0.96
R5593:Or52e4	UTSW	7	104,705,711 (GRCm39)	missense	probably damaging	1.00
R6831:Or52e4	UTSW	7	104,706,086 (GRCm39)	missense	possibly damaging	0.95
R6991:Or52e4	UTSW	7	104,705,771 (GRCm39)	missense	probably damaging	1.00
R7387:Or52e4	UTSW	7	104,706,297 (GRCm39)	nonsense	probably null
R7812:Or52e4	UTSW	7	104,705,894 (GRCm39)	missense	possibly damaging	0.59
R7984:Or52e4	UTSW	7	104,705,639 (GRCm39)	missense	probably damaging	0.98
R8199:Or52e4	UTSW	7	104,705,852 (GRCm39)	missense	probably damaging	0.99
R9532:Or52e4	UTSW	7	104,706,275 (GRCm39)	missense	probably damaging	1.00
R9563:Or52e4	UTSW	7	104,706,281 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACACTTGTGGTTCCCATGTC -3'
(R):5'- TCTAAACTTTGTCCAGACATGTGG -3'

Sequencing Primer
(F):5'- TGGTTCCCATGTCTGTATAATGC -3'
(R):5'- TCCAGACATGTGGAGGGAGC -3'

Posted On

2022-10-06