Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:2300002M23Rik'

432947

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35879079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 139 (E139G)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

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

AlphaFold

Q8BM15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044326
AA Change: E139G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: E139G

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,631,607 (GRCm39)	N1223S	probably benign	Het
Adamts3	A	T	5: 89,839,332 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,023,654 (GRCm39)	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,135,694 (GRCm39)	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,334 (GRCm39)	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,148,472 (GRCm39)	I283V	probably null	Het
Ebf2	A	G	14: 67,472,650 (GRCm39)	M23V	probably benign	Het
Fbxw11	T	C	11: 32,689,191 (GRCm39)	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,745,738 (GRCm39)	T348M	possibly damaging	Het
Gpr179	A	T	11: 97,227,483 (GRCm39)	H1557Q	probably benign	Het
Gpr87	A	G	3: 59,087,148 (GRCm39)	V119A	possibly damaging	Het
Grep1	C	T	17: 23,930,817 (GRCm39)		probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,704,742 (GRCm39)	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,250 (GRCm39)	H355Y	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,917,216 (GRCm39)	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,332,316 (GRCm39)	L1211*	probably null	Het
Mcmdc2	A	G	1: 10,007,309 (GRCm39)	I620V	probably benign	Het
Mical2	C	T	7: 111,981,444 (GRCm39)	H539Y	probably benign	Het
Myo9a	T	C	9: 59,791,803 (GRCm39)	L1802P	probably damaging	Het
Neto2	T	A	8: 86,397,112 (GRCm39)	I47F	probably benign	Het
Oog3	G	A	4: 143,885,815 (GRCm39)	T261I	probably benign	Het
Or5b95	A	G	19: 12,657,799 (GRCm39)	E109G	probably damaging	Het
Pdilt	A	G	7: 119,086,158 (GRCm39)	L519P	probably benign	Het
Pnpla6	A	T	8: 3,585,829 (GRCm39)	M844L	probably benign	Het
Polk	C	T	13: 96,631,984 (GRCm39)	G250R	probably damaging	Het
Rasal2	A	G	1: 156,985,231 (GRCm39)	S839P	probably damaging	Het
Siae	T	C	9: 37,528,119 (GRCm39)	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,422,912 (GRCm39)	V379A	probably damaging	Het
Snx9	C	T	17: 5,970,913 (GRCm39)	T418M	probably damaging	Het
Spata31e2	A	C	1: 26,724,272 (GRCm39)	S303A	probably damaging	Het
Srp72	A	G	5: 77,132,185 (GRCm39)	T258A	probably benign	Het
Tango6	T	A	8: 107,576,921 (GRCm39)	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,144,234 (GRCm39)	Y656F	probably damaging	Het
Tnik	T	A	3: 28,715,890 (GRCm39)	I1168K	probably damaging	Het
Togaram1	A	G	12: 65,014,510 (GRCm39)	E587G	probably damaging	Het
Tyw1	A	C	5: 130,303,547 (GRCm39)	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,381,475 (GRCm39)	Y9*	probably null	Het
Zkscan3	A	T	13: 21,578,982 (GRCm39)	V142E	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
R1154:2300002M23Rik	UTSW	17	35,879,673 (GRCm39)	missense	probably damaging	1.00
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
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

PCR Primer
(F):5'- GCCAGACCCTGTGAATAATGAG -3'
(R):5'- TTAGGATCCTCCCAGATGAGC -3'

Sequencing Primer
(F):5'- GACCCTGTGAATAATGAGTTACTAGG -3'
(R):5'- GCCAGGCAGAAGCTTGTG -3'

Posted On

2016-10-06