Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Or52b4i'

620412

Institutional Source

Beutler Lab

Gene Symbol

Or52b4i

Ensembl Gene

ENSMUSG00000073978

Gene Name

olfactory receptor family 52 subfamily B member 4I

Synonyms

Olfr548, MOR31-13, GA_x6K02T2PBJ9-5263046-5263989

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8074 (G1)

Quality Score

123.008

Status

Validated

Chromosome

Chromosomal Location

102191145-102192086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102191830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 229 (H229R)

Ref Sequence

ENSEMBL: ENSMUSP00000147923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098228] [ENSMUST00000210064]

AlphaFold

A0A1B0GSG0

Predicted Effect

probably benign
Transcript: ENSMUST00000098228
AA Change: H229R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131106
Gene: ENSMUSG00000073978
AA Change: H229R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	6.8e-104	PFAM
Pfam:7TM_GPCR_Srsx	37	280	1.6e-9	PFAM
Pfam:7tm_1	43	294	2.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098228
AA Change: H229R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210064
AA Change: H229R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.1543

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	Het

Other mutations in Or52b4i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Or52b4i	APN	7	102,191,593 (GRCm39)	missense	possibly damaging	0.94
IGL01532:Or52b4i	APN	7	102,191,863 (GRCm39)	missense	probably damaging	1.00
R0114:Or52b4i	UTSW	7	102,191,938 (GRCm39)	missense	probably benign	0.32
R0398:Or52b4i	UTSW	7	102,191,899 (GRCm39)	missense	probably damaging	1.00
R0426:Or52b4i	UTSW	7	102,191,893 (GRCm39)	missense	probably damaging	1.00
R0616:Or52b4i	UTSW	7	102,191,761 (GRCm39)	missense	possibly damaging	0.70
R1511:Or52b4i	UTSW	7	102,191,332 (GRCm39)	missense	probably damaging	1.00
R1570:Or52b4i	UTSW	7	102,191,177 (GRCm39)	missense	probably damaging	0.99
R4668:Or52b4i	UTSW	7	102,191,811 (GRCm39)	missense	possibly damaging	0.95
R4825:Or52b4i	UTSW	7	102,191,587 (GRCm39)	missense	possibly damaging	0.90
R6030:Or52b4i	UTSW	7	102,191,817 (GRCm39)	missense	probably benign	0.01
R6030:Or52b4i	UTSW	7	102,191,817 (GRCm39)	missense	probably benign	0.01
R6427:Or52b4i	UTSW	7	102,191,895 (GRCm39)	missense	probably benign	0.05
R7108:Or52b4i	UTSW	7	102,191,199 (GRCm39)	missense	probably damaging	0.99
R7451:Or52b4i	UTSW	7	102,191,461 (GRCm39)	missense	probably benign	0.01
R7622:Or52b4i	UTSW	7	102,191,830 (GRCm39)	missense	probably benign	0.00
R7940:Or52b4i	UTSW	7	102,191,515 (GRCm39)	missense	possibly damaging	0.60
R8133:Or52b4i	UTSW	7	102,192,065 (GRCm39)	missense	probably benign	0.01
R8145:Or52b4i	UTSW	7	102,191,830 (GRCm39)	missense	probably benign	0.00
X0058:Or52b4i	UTSW	7	102,192,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCGGAGTGGGCATCTTTCTG -3'
(R):5'- AGCCAGGATGCAGACATTGG -3'

Sequencing Primer
(F):5'- GCATCTTTCTGAGAAGTTATGGTAC -3'
(R):5'- TGCAGACATTGGCAAGCAG -3'

Posted On

2020-01-23