Mutagenetix > Incidental Mutation

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

045901-MU

Accession Numbers

Essential gene?

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

Stock #

R7847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35878382-35879842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35879549 bp (GRCm39)

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]

AlphaFold

Q8BM15

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: 118,864,892 (GRCm39)	E378G	probably damaging	Het
Acp2	C	T	2: 91,041,077 (GRCm39)	H422Y	possibly damaging	Het
Aldoart1	C	T	4: 72,770,193 (GRCm39)	C205Y	probably damaging	Het
Alg9	T	C	9: 50,700,905 (GRCm39)	L225S	possibly damaging	Het
Anapc1	A	C	2: 128,511,828 (GRCm39)	V455G	possibly damaging	Het
Arhgef5	C	A	6: 43,252,069 (GRCm39)	S940*	probably null	Het
Asb15	C	A	6: 24,564,266 (GRCm39)	A240E	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc17	A	G	4: 116,457,103 (GRCm39)	E529G	probably benign	Het
Cyp2b10	T	C	7: 25,597,185 (GRCm39)	S26P	possibly damaging	Het
Dcp1b	T	C	6: 119,192,256 (GRCm39)	S391P	probably benign	Het
Dock6	A	T	9: 21,712,503 (GRCm39)	L2086Q	unknown	Het
Ephx1	A	G	1: 180,829,426 (GRCm39)	S41P	probably benign	Het
Erbb3	G	A	10: 128,407,058 (GRCm39)	T1034M	probably damaging	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Golgb1	A	G	16: 36,752,282 (GRCm39)	H3227R	probably damaging	Het
Grin2c	G	A	11: 115,151,804 (GRCm39)	P52L	possibly damaging	Het
Herc2	T	C	7: 55,807,308 (GRCm39)		probably null	Het
Il17rb	A	G	14: 29,718,763 (GRCm39)	Y440H	probably damaging	Het
Kcng4	A	G	8: 120,352,881 (GRCm39)	L343P	probably damaging	Het
Knl1	G	A	2: 118,901,457 (GRCm39)	E1053K	probably benign	Het
Lipo4	A	T	19: 33,491,599 (GRCm39)	V128E	possibly damaging	Het
Lmntd2	T	C	7: 140,790,063 (GRCm39)	N650D	probably benign	Het
Lrrfip2	T	C	9: 111,042,948 (GRCm39)	L460P	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mtcl1	T	C	17: 66,651,328 (GRCm39)	Q1379R	probably damaging	Het
Mtfr2	G	A	10: 20,233,198 (GRCm39)	A256T	probably benign	Het
Mup17	T	A	4: 61,511,456 (GRCm39)	H159L	probably benign	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nup210l	A	G	3: 90,058,430 (GRCm39)	M610V	probably benign	Het
Or10ak14	G	T	4: 118,611,565 (GRCm39)	H59N	possibly damaging	Het
Or7a38	T	A	10: 78,752,730 (GRCm39)	S19T	probably benign	Het
Or8g35	A	G	9: 39,381,801 (GRCm39)	S74P	probably benign	Het
Pard3b	A	G	1: 62,383,093 (GRCm39)	D729G	probably benign	Het
Phactr1	T	C	13: 43,210,664 (GRCm39)	L169P	possibly damaging	Het
Rad54b	T	A	4: 11,612,655 (GRCm39)	S762R	probably damaging	Het
Senp5	C	T	16: 31,808,991 (GRCm39)	V88I	probably benign	Het
Specc1l	T	C	10: 75,145,670 (GRCm39)	V1105A	probably damaging	Het
Trak2	A	C	1: 58,974,977 (GRCm39)	S72A	possibly damaging	Het
Ttyh2	T	C	11: 114,566,500 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,163,005 (GRCm39)	C1029Y	probably damaging	Het
Vmn2r17	A	G	5: 109,568,063 (GRCm39)	Y62C	probably damaging	Het
Vmn2r41	A	G	7: 8,164,547 (GRCm39)	F2L	probably benign	Het
Xirp1	G	T	9: 119,848,819 (GRCm39)	D21E	possibly damaging	Het
Zfp114	C	A	7: 23,880,460 (GRCm39)	Q270K	possibly damaging	Het
Zfp341	T	C	2: 154,476,114 (GRCm39)	S441P	probably damaging	Het
Zfp780b	A	C	7: 27,663,843 (GRCm39)	H237Q	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
R6761:2300002M23Rik	UTSW	17	35,878,845 (GRCm39)	missense	probably benign	0.01
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'- TCTGGAATATGGGGTAGCAATG -3'
(R):5'- CGCTGCAAACCAGTTGTGAG -3'

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

Posted On

2019-12-20