Mutagenetix > Incidental Mutations

Incidental Mutation 'R7847:2300002M23Rik'

606704

Institutional Source

Beutler Lab

Gene Symbol

2300002M23Rik

Ensembl Gene

ENSMUSG00000039269

Gene Name

RIKEN cDNA 2300002M23 gene

Synonyms

emprin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35567450-35568952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35568652 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 296 (Y296N)

Ref Sequence

ENSEMBL: ENSMUSP00000038043 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044326
AA Change: Y296N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: Y296N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,627,480	E378G	probably damaging	Het
Acp2	C	T	2: 91,210,732	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,851,956	C205Y	probably damaging	Het
Alg9	T	C	9: 50,789,605	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,669,908	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,275,135	S940*	probably null	Het
Asb15	C	A	6: 24,564,267	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,042,160		probably benign	Het
Ccdc17	A	G	4: 116,599,906	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,897,760	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,215,295	S391P	probably benign	Het
Dock6	A	T	9: 21,801,207	L2086Q	unknown	Het
Ephx1	A	G	1: 181,001,861	S41P	probably benign	Het
Erbb3	G	A	10: 128,571,189	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,772,738		probably benign	Het
Golgb1	A	G	16: 36,931,920	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,260,978	P52L	possibly damaging	Het
Herc2	T	C	7: 56,157,560		probably null	Het
Il17rb	A	G	14: 29,996,806	Y440H	probably damaging	Het
Kcng4	A	G	8: 119,626,142	L343P	probably damaging	Het
Knl1	G	A	2: 119,070,976	E1053K	probably benign	Het
Lipo4	A	T	19: 33,514,199	V128E	possibly damaging	Het
Lmntd2	T	C	7: 141,210,150	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,213,880	L460P	probably damaging	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mtcl1	T	C	17: 66,344,333	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,357,452	A256T	probably benign	Het
Mup17	T	A	4: 61,593,219	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,660,053	D175E	probably damaging	Het
Nup210l	A	G	3: 90,151,123	M610V	probably benign	Het
Olfr1338	G	T	4: 118,754,368	H59N	possibly damaging	Het
Olfr1354	T	A	10: 78,916,896	S19T	probably benign	Het
Olfr955	A	G	9: 39,470,505	S74P	probably benign	Het
Pard3b	A	G	1: 62,343,934	D729G	probably benign	Het
Phactr1	T	C	13: 43,057,188	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655	S762R	probably damaging	Het
Senp5	C	T	16: 31,990,173	V88I	probably benign	Het
Specc1l	T	C	10: 75,309,836	V1105A	probably damaging	Het
Trak2	A	C	1: 58,935,818	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,675,674		probably null	Het
Ush2a	G	A	1: 188,430,808	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,420,197	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,161,548	F2L	probably benign	Het
Xirp1	G	T	9: 120,019,753	D21E	possibly damaging	Het
Zfp114	C	A	7: 24,181,035	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,634,194	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,964,418	H237Q	probably benign	Het

Other mutations in 2300002M23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:2300002M23Rik	APN	17	35567833	critical splice acceptor site	probably null
IGL02604:2300002M23Rik	APN	17	35567948	missense	probably benign	0.01
R1154:2300002M23Rik	UTSW	17	35568776	missense	probably damaging	1.00
R2184:2300002M23Rik	UTSW	17	35568218	missense	probably benign
R2406:2300002M23Rik	UTSW	17	35568455	missense	probably damaging	0.96
R3824:2300002M23Rik	UTSW	17	35567611	missense	probably benign
R4739:2300002M23Rik	UTSW	17	35567506	utr 5 prime	probably benign
R4936:2300002M23Rik	UTSW	17	35568315	missense	possibly damaging	0.92
R5318:2300002M23Rik	UTSW	17	35567986	missense	possibly damaging	0.95
R5459:2300002M23Rik	UTSW	17	35568182	missense	possibly damaging	0.91
R6453:2300002M23Rik	UTSW	17	35568212	missense	possibly damaging	0.71
R6761:2300002M23Rik	UTSW	17	35567948	missense	probably benign	0.01
RF010:2300002M23Rik	UTSW	17	35568576	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGAATATGGGGTAGCAATG -3'
(R):5'- CGCTGCAAACCAGTTGTGAG -3'

Sequencing Primer
(F):5'- GTAGCAATGGTTTAGTATCAGGTAC -3'
(R):5'- CGCTGCAAACCAGTTGTGAGATTAG -3'

Posted On

2019-12-20