Mutagenetix > Incidental Mutation

Incidental Mutation 'R2406:2300002M23Rik'

248030

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

040372-MU

Accession Numbers

Essential gene?

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

Stock #

R2406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35879352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 230 (V230E)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

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

AlphaFold

Q8BM15

Predicted Effect

probably damaging
Transcript: ENSMUST00000044326
AA Change: V230E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: V230E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.9%

Validation Efficiency

95% (42/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,230,064 (GRCm39)		probably benign	Het
AW554918	A	G	18: 25,473,344 (GRCm39)	I180V	possibly damaging	Het
C9	T	C	15: 6,512,780 (GRCm39)	S301P	possibly damaging	Het
Cdc42bpb	T	C	12: 111,268,558 (GRCm39)	Q1214R	probably benign	Het
Chaf1b	T	C	16: 93,697,043 (GRCm39)	I351T	probably damaging	Het
Clip1	T	C	5: 123,741,723 (GRCm39)	E1177G	probably damaging	Het
Colgalt1	G	A	8: 72,070,312 (GRCm39)	C198Y	probably damaging	Het
Dennd4b	C	T	3: 90,182,795 (GRCm39)	R871C	probably damaging	Het
Efcab3	A	T	11: 104,611,457 (GRCm39)	D433V	probably benign	Het
Eif4ebp1	A	G	8: 27,763,362 (GRCm39)	I52V	probably damaging	Het
Fbxw5	T	C	2: 25,394,195 (GRCm39)	I86T	probably damaging	Het
Gm10650	A	G	3: 127,833,530 (GRCm39)		noncoding transcript	Het
Helz	G	A	11: 107,577,378 (GRCm39)	A1910T	unknown	Het
Hsf2	C	T	10: 57,373,642 (GRCm39)	T70I	probably damaging	Het
Ifih1	A	G	2: 62,437,447 (GRCm39)		probably benign	Het
Kdm2a	T	C	19: 4,372,546 (GRCm39)	D933G	probably damaging	Het
Macc1	T	C	12: 119,429,346 (GRCm39)	I832T	probably damaging	Het
Mapk15	T	C	15: 75,870,697 (GRCm39)	S512P	possibly damaging	Het
Mybpc2	A	T	7: 44,171,149 (GRCm39)	I134N	possibly damaging	Het
Myh4	A	G	11: 67,150,000 (GRCm39)	E1853G	probably damaging	Het
Ncoa3	T	C	2: 165,897,279 (GRCm39)	V690A	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5b97	A	G	19: 12,878,991 (GRCm39)	V51A	probably benign	Het
Pacsin2	A	T	15: 83,269,313 (GRCm39)		probably benign	Het
Piezo2	A	T	18: 63,155,596 (GRCm39)	L2416Q	probably damaging	Het
Pip5k1c	T	A	10: 81,144,858 (GRCm39)	I233N	probably damaging	Het
Ptcd3	T	C	6: 71,865,631 (GRCm39)	D428G	probably damaging	Het
Ptprf	T	C	4: 118,126,501 (GRCm39)	D84G	possibly damaging	Het
Rasgrf2	T	C	13: 92,120,359 (GRCm39)	D798G	probably benign	Het
Setd7	A	G	3: 51,450,097 (GRCm39)	Y110H	probably damaging	Het
Sgta	T	C	10: 80,887,081 (GRCm39)	I61M	possibly damaging	Het
Shank1	A	G	7: 44,006,376 (GRCm39)	D2031G	possibly damaging	Het
Skint5	A	G	4: 113,799,864 (GRCm39)	Y88H	probably damaging	Het
Spata31f1a	A	T	4: 42,851,696 (GRCm39)	D153E	probably benign	Het
Stox1	T	C	10: 62,499,945 (GRCm39)	I872V	probably benign	Het
Tmc4	A	G	7: 3,674,025 (GRCm39)	F385L	probably benign	Het
Top3a	A	G	11: 60,646,838 (GRCm39)	F258L	probably damaging	Het
Ttn	T	C	2: 76,780,499 (GRCm39)	Y1084C	probably damaging	Het
Ubtf	A	T	11: 102,199,528 (GRCm39)	Y504*	probably null	Het
Wdfy3	T	C	5: 102,036,125 (GRCm39)	T2098A	probably damaging	Het
Wnk2	G	T	13: 49,214,964 (GRCm39)	T1194K	possibly damaging	Het
Zbtb40	T	A	4: 136,725,879 (GRCm39)	E560V	probably benign	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
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

PCR Primer
(F):5'- GTTCACTGGAAACTGAGGCAG -3'
(R):5'- TGCTGGATACTGGCAATTGGC -3'

Sequencing Primer
(F):5'- TCCTAAGGCCTGGAACAT -3'
(R):5'- GGTACTGACCATAACCGCC -3'

Posted On

2014-11-11