Mutagenetix > Incidental Mutation

Incidental Mutation 'R8133:Or52b4i'

651991

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

067561-MU

Accession Numbers

Essential gene?

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

Stock #

R8133 (G1)

Quality Score

73.0074

Status

Validated

Chromosome

Chromosomal Location

102191145-102192086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102192065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 307 (H307Q)

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: H307Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000131106
Gene: ENSMUSG00000073978
AA Change: H307Q

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: H307Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000210064
AA Change: H307Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,018,289 (GRCm39)	S1110R	possibly damaging	Het
Adam15	C	T	3: 89,254,513 (GRCm39)	R123Q	probably benign	Het
AI987944	A	G	7: 41,024,489 (GRCm39)		probably null	Het
Ankrd31	T	C	13: 97,003,003 (GRCm39)		probably null	Het
Arfgef3	C	A	10: 18,486,951 (GRCm39)		probably null	Het
Atp6v0c	C	T	17: 24,383,553 (GRCm39)	S98N	possibly damaging	Het
Camsap1	T	C	2: 25,824,309 (GRCm39)	N1417S	probably damaging	Het
Cct7	T	C	6: 85,438,045 (GRCm39)	S96P	probably damaging	Het
Cd200l1	T	C	16: 45,264,304 (GRCm39)	T85A	probably benign	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cib4	T	C	5: 30,691,562 (GRCm39)	D53G	probably benign	Het
Cntn6	T	A	6: 104,705,298 (GRCm39)	S244T	probably benign	Het
Cubn	G	T	2: 13,393,659 (GRCm39)	D1447E	probably damaging	Het
Ebf3	T	C	7: 136,914,872 (GRCm39)	E102G	probably damaging	Het
Elmo1	T	A	13: 20,557,256 (GRCm39)	V399E	probably damaging	Het
Etl4	A	G	2: 20,811,082 (GRCm39)	E1423G	possibly damaging	Het
Glis3	A	G	19: 28,327,406 (GRCm39)	S669P	probably benign	Het
Hipk1	T	C	3: 103,660,710 (GRCm39)	T742A	possibly damaging	Het
Igdcc4	C	A	9: 65,039,023 (GRCm39)	T890N	possibly damaging	Het
Jcad	C	T	18: 4,649,384 (GRCm39)	T85I	probably benign	Het
Kmt2d	T	C	15: 98,762,823 (GRCm39)	K316E	probably damaging	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrn4	T	C	2: 132,719,934 (GRCm39)	N289D	probably damaging	Het
Mcf2l	A	G	8: 13,061,487 (GRCm39)	M829V	probably damaging	Het
Mib2	C	T	4: 155,741,458 (GRCm39)	R495H	probably benign	Het
Nqo2	T	C	13: 34,169,461 (GRCm39)	Y228H	probably benign	Het
Nrg2	T	A	18: 36,165,430 (GRCm39)	E394V	probably benign	Het
Oas1e	T	C	5: 120,926,060 (GRCm39)	N336S	probably benign	Het
Obi1	G	T	14: 104,716,681 (GRCm39)	S564*	probably null	Het
Or51i2	G	T	7: 103,689,122 (GRCm39)	G40W	probably benign	Het
Or5b95	T	G	19: 12,657,844 (GRCm39)	V124G	probably damaging	Het
Pax4	T	C	6: 28,442,513 (GRCm39)	D305G	probably benign	Het
Pcdhb16	T	A	18: 37,611,185 (GRCm39)	N48K	probably damaging	Het
Pcdhb20	G	T	18: 37,639,663 (GRCm39)	E730*	probably null	Het
Pde4a	A	T	9: 21,102,673 (GRCm39)	D119V	possibly damaging	Het
Pgam1	T	C	19: 41,904,149 (GRCm39)	V82A	probably benign	Het
Phf11a	C	T	14: 59,521,773 (GRCm39)	G133S	probably damaging	Het
Phlpp1	TGCGCGCGCGC	TGCGCGCGC	1: 106,100,522 (GRCm39)		probably null	Het
Piwil1	T	C	5: 128,826,914 (GRCm39)	V558A	probably damaging	Het
Prpf40b	T	C	15: 99,202,319 (GRCm39)	V59A	unknown	Het
Psd4	T	A	2: 24,286,701 (GRCm39)	S353T	probably benign	Het
Ryr2	A	T	13: 11,618,584 (GRCm39)	L3877H	probably damaging	Het
S100a2	T	C	3: 90,498,616 (GRCm39)	V39A	possibly damaging	Het
Tanc2	T	A	11: 105,814,048 (GRCm39)	S1831T	probably damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp141	A	G	7: 42,124,481 (GRCm39)	C664R	probably 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
R8074:Or52b4i	UTSW	7	102,191,830 (GRCm39)	missense	probably benign	0.00
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'- CAAAGCTCTCAACACGTGCG -3'
(R):5'- ACTGATCTGAGACCTTGAATAGC -3'

Sequencing Primer
(F):5'- TCTCAACACGTGCGGCTCC -3'
(R):5'- TGATCTGAGACCTTGAATAGCATATC -3'

Posted On

2020-09-18