Mutagenetix > Incidental Mutation

Incidental Mutation 'R6761:2300002M23Rik'

531718

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

044877-MU

Accession Numbers

Essential gene?

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

Stock #

R6761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35878845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 61 (V61A)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

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

AlphaFold

Q8BM15

Predicted Effect

probably benign
Transcript: ENSMUST00000044326
AA Change: V61A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: V61A

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (34/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	C	T	5: 26,030,137 (GRCm39)	S67F	probably damaging	Het
Ap3m1	T	C	14: 21,088,096 (GRCm39)	M107V	probably benign	Het
Ccdc27	C	T	4: 154,122,155 (GRCm39)	G241D	unknown	Het
Cit	T	G	5: 116,046,734 (GRCm39)	D382E	probably damaging	Het
Clec3b	G	T	9: 122,986,004 (GRCm39)	G134V	probably damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Dst	T	C	1: 34,253,631 (GRCm39)	S4300P	probably damaging	Het
Ebna1bp2	C	T	4: 118,480,558 (GRCm39)	R134*	probably null	Het
Efcab14	T	C	4: 115,596,024 (GRCm39)	S57P	probably damaging	Het
Exosc2	T	C	2: 31,560,875 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,043,145 (GRCm39)	T630A	probably damaging	Het
Hkdc1	A	T	10: 62,244,477 (GRCm39)	I203N	possibly damaging	Het
Hltf	T	A	3: 20,137,996 (GRCm39)		probably null	Het
Igkv3-2	G	T	6: 70,675,501 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,965,047 (GRCm39)	D471G	probably damaging	Het
Msmo1	A	G	8: 65,172,061 (GRCm39)	Y281H	probably benign	Het
Nid1	A	G	13: 13,656,620 (GRCm39)	T584A	probably benign	Het
Olfr908	A	G	9: 38,427,561 (GRCm39)	T78A	probably damaging	Het
Or52a24	C	T	7: 103,381,691 (GRCm39)	A186V	probably damaging	Het
Otoa	G	A	7: 120,721,173 (GRCm39)	G396D	probably damaging	Het
Prss45	G	T	9: 110,669,487 (GRCm39)	A197S	probably damaging	Het
Prxl2a	T	A	14: 40,716,578 (GRCm39)	H198L	probably damaging	Het
Rpap2	T	A	5: 107,768,104 (GRCm39)	I314N	probably benign	Het
Sash1	A	G	10: 8,620,286 (GRCm39)	M458T	probably damaging	Het
Slc44a5	A	G	3: 153,945,714 (GRCm39)		probably null	Het
Sorbs2	T	C	8: 46,225,651 (GRCm39)	S254P	probably damaging	Het
Sycp2	T	C	2: 178,016,144 (GRCm39)		probably null	Het
Tedc1	A	G	12: 113,125,334 (GRCm39)	D252G	probably damaging	Het
Uty	T	C	Y: 1,186,790 (GRCm39)	H145R	probably damaging	Homo
Vmn1r9	A	G	6: 57,048,291 (GRCm39)	Y122C	probably benign	Het
Wdfy4	T	A	14: 32,817,908 (GRCm39)	N1491Y	possibly damaging	Het
Wdr37	T	C	13: 8,899,684 (GRCm39)	T140A	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
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
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'- GTGCCAGTACAGAATCAGGC -3'
(R):5'- GCATTTGCTCTAACTGGTCCTCAG -3'

Sequencing Primer
(F):5'- GTACAGAATCAGGCATTCAGC -3'
(R):5'- TGGTCCTCAGCAACAGCAG -3'

Posted On

2018-08-29