Incidental Mutation 'R5318:2300002M23Rik'
ID 405954
Institutional Source Beutler Lab
Gene Symbol 2300002M23Rik
Ensembl Gene ENSMUSG00000039269
Gene Name RIKEN cDNA 2300002M23 gene
Synonyms emprin
MMRRC Submission 042901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5318 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35878382-35879842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35878883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 74 (E74K)
Ref Sequence ENSEMBL: ENSMUSP00000038043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044326]
AlphaFold Q8BM15
Predicted Effect possibly damaging
Transcript: ENSMUST00000044326
AA Change: E74K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038043
Gene: ENSMUSG00000039269
AA Change: E74K

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankfn1 A G 11: 89,282,754 (GRCm39) S298P probably damaging Het
Arfgef2 A C 2: 166,715,891 (GRCm39) K1393N probably damaging Het
Atp4a T A 7: 30,414,754 (GRCm39) V181E probably damaging Het
Bin3 A G 14: 70,371,961 (GRCm39) D134G possibly damaging Het
Cabs1 A G 5: 88,128,425 (GRCm39) T359A possibly damaging Het
Cblb A T 16: 52,006,561 (GRCm39) K754N possibly damaging Het
Ccdc153 A T 9: 44,157,062 (GRCm39) R135* probably null Het
Cel T C 2: 28,447,720 (GRCm39) E398G possibly damaging Het
Clip1 G A 5: 123,751,147 (GRCm39) probably benign Het
Dnase2b C A 3: 146,288,210 (GRCm39) R295L probably benign Het
Dnm3 G A 1: 161,839,376 (GRCm39) Q194* probably null Het
Dtx2 T A 5: 136,040,954 (GRCm39) S120T possibly damaging Het
Fat3 A T 9: 16,287,925 (GRCm39) S533T probably damaging Het
Foxred2 T C 15: 77,836,598 (GRCm39) I306V probably benign Het
Gdpd5 A T 7: 99,102,234 (GRCm39) T278S probably benign Het
Gli2 T A 1: 118,772,200 (GRCm39) T502S probably damaging Het
Gm21830 A T 2: 67,263,158 (GRCm39) probably null Het
Gm5617 T A 9: 48,407,211 (GRCm39) I115N possibly damaging Het
Gpr75 G T 11: 30,842,459 (GRCm39) A455S probably benign Het
Grik3 A G 4: 125,587,929 (GRCm39) E683G probably damaging Het
Grin2b T C 6: 135,710,916 (GRCm39) I877V probably damaging Het
Gsg1l2 G T 11: 67,673,347 (GRCm39) C109F possibly damaging Het
H2-Q4 G A 17: 35,602,287 (GRCm39) V341I possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kif5c A G 2: 49,561,840 (GRCm39) K68R probably benign Het
Lct T A 1: 128,232,109 (GRCm39) H580L probably damaging Het
Lrrtm4 A G 6: 79,999,495 (GRCm39) I302M probably damaging Het
Mef2b A T 8: 70,619,493 (GRCm39) R228W probably damaging Het
Mtus2 T A 5: 148,013,382 (GRCm39) D58E probably benign Het
Myh15 T G 16: 48,930,834 (GRCm39) S603A probably damaging Het
Or1x2 T C 11: 50,918,420 (GRCm39) V197A probably benign Het
Or8d1 C T 9: 38,766,744 (GRCm39) P129S probably damaging Het
Or8s2 A G 15: 98,276,523 (GRCm39) I156T possibly damaging Het
P2rx4 G A 5: 122,857,211 (GRCm39) C149Y probably null Het
Pramel51 A T 12: 88,142,998 (GRCm39) C207S probably benign Het
Proca1 T A 11: 78,092,683 (GRCm39) V43E possibly damaging Het
Rftn1 G T 17: 50,301,486 (GRCm39) N454K probably benign Het
Rrp15 T C 1: 186,453,743 (GRCm39) T235A probably benign Het
Serpina6 T C 12: 103,620,221 (GRCm39) E176G possibly damaging Het
Shprh T G 10: 11,042,301 (GRCm39) I761M probably benign Het
Smg1 A T 7: 117,759,427 (GRCm39) probably benign Het
Snupn T C 9: 56,864,345 (GRCm39) S15P probably damaging Het
Tbc1d15 A T 10: 115,044,874 (GRCm39) Y509* probably null Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tdrd3 T C 14: 87,714,899 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,029,576 (GRCm39) V175D probably benign Het
Vmn1r201 T C 13: 22,659,092 (GRCm39) L102P probably damaging Het
Wdfy4 T A 14: 32,800,300 (GRCm39) N1788I possibly damaging Het
Xpc A C 6: 91,469,992 (GRCm39) V744G probably damaging Het
Xrcc6 T C 15: 81,921,708 (GRCm39) F178L probably damaging Het
Zbed6 A G 1: 133,585,853 (GRCm39) S495P possibly damaging Het
Zfyve26 A G 12: 79,317,624 (GRCm39) V1196A probably benign Het
Other mutations in 2300002M23Rik
AlleleSourceChrCoordTypePredicted EffectPPH 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
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

Sequencing Primer
Posted On 2016-07-22