Mutagenetix > Incidental Mutation

Incidental Mutation 'R1154:2300002M23Rik'

101642

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

039227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35879673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 337 (P337L)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044326]

AlphaFold

Q8BM15

Predicted Effect

probably damaging
Transcript: ENSMUST00000044326
AA Change: P337L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: P337L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:STG	34	260	4.8e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174246

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Female homozygous null mice exhibit reduced body weight and total body fat. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Gpr6	A	C	10: 40,946,833 (GRCm39)	C250G	probably damaging	Het

Other mutations in 2300002M23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:2300002M23Rik	APN	17	35,878,730 (GRCm39)	critical splice acceptor site	probably null
IGL02604:2300002M23Rik	APN	17	35,878,845 (GRCm39)	missense	probably benign	0.01
R2184:2300002M23Rik	UTSW	17	35,879,115 (GRCm39)	missense	probably benign
R2406:2300002M23Rik	UTSW	17	35,879,352 (GRCm39)	missense	probably damaging	0.96
R3824:2300002M23Rik	UTSW	17	35,878,508 (GRCm39)	missense	probably benign
R4739:2300002M23Rik	UTSW	17	35,878,403 (GRCm39)	utr 5 prime	probably benign
R4936:2300002M23Rik	UTSW	17	35,879,212 (GRCm39)	missense	possibly damaging	0.92
R5318:2300002M23Rik	UTSW	17	35,878,883 (GRCm39)	missense	possibly damaging	0.95
R5459:2300002M23Rik	UTSW	17	35,879,079 (GRCm39)	missense	possibly damaging	0.91
R6453:2300002M23Rik	UTSW	17	35,879,109 (GRCm39)	missense	possibly damaging	0.71
R6761:2300002M23Rik	UTSW	17	35,878,845 (GRCm39)	missense	probably benign	0.01
R7847:2300002M23Rik	UTSW	17	35,879,549 (GRCm39)	missense	probably benign
R9406:2300002M23Rik	UTSW	17	35,879,487 (GRCm39)	missense	possibly damaging	0.96
RF010:2300002M23Rik	UTSW	17	35,879,473 (GRCm39)	small deletion	probably benign

Predicted Primers

Posted On

2014-01-15