Incidental Mutation 'R4329:2900026A02Rik'
ID 324513
Institutional Source Beutler Lab
Gene Symbol 2900026A02Rik
Ensembl Gene ENSMUSG00000051339
Gene Name RIKEN cDNA 2900026A02 gene
Synonyms LOC231620, Gm449
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4329 (G1)
Quality Score 186
Status Validated
Chromosome 5
Chromosomal Location 113234189-113369102 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 113243455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050125] [ENSMUST00000211733] [ENSMUST00000212276]
AlphaFold Q8BRV5
Predicted Effect probably null
Transcript: ENSMUST00000050125
SMART Domains Protein: ENSMUSP00000058789
Gene: ENSMUSG00000051339

DomainStartEndE-ValueType
low complexity region 62 71 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
Tankyrase_bdg_C 130 299 5.69e-103 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197597
Predicted Effect probably null
Transcript: ENSMUST00000211733
Predicted Effect probably null
Transcript: ENSMUST00000212276
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Fbxw22 T A 9: 109,213,111 (GRCm39) T279S probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign Het
Other mutations in 2900026A02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02810:2900026A02Rik APN 5 113,249,401 (GRCm39) missense probably damaging 1.00
oyster UTSW 5 113,330,833 (GRCm39) missense probably benign 0.14
pimento UTSW 5 113,243,473 (GRCm39) missense probably damaging 1.00
R1394:2900026A02Rik UTSW 5 113,249,362 (GRCm39) missense probably damaging 1.00
R1395:2900026A02Rik UTSW 5 113,249,362 (GRCm39) missense probably damaging 1.00
R4766:2900026A02Rik UTSW 5 113,245,502 (GRCm39) missense probably benign 0.01
R6124:2900026A02Rik UTSW 5 113,331,622 (GRCm39) missense probably benign
R6336:2900026A02Rik UTSW 5 113,331,349 (GRCm39) missense possibly damaging 0.88
R6365:2900026A02Rik UTSW 5 113,330,510 (GRCm39) missense probably benign 0.00
R6575:2900026A02Rik UTSW 5 113,330,683 (GRCm39) missense probably damaging 1.00
R6759:2900026A02Rik UTSW 5 113,331,692 (GRCm39) missense probably benign 0.00
R7117:2900026A02Rik UTSW 5 113,339,250 (GRCm39) missense probably benign 0.00
R7168:2900026A02Rik UTSW 5 113,285,659 (GRCm39) missense probably damaging 0.96
R7339:2900026A02Rik UTSW 5 113,330,938 (GRCm39) missense probably benign 0.09
R7450:2900026A02Rik UTSW 5 113,331,977 (GRCm39) missense possibly damaging 0.78
R7458:2900026A02Rik UTSW 5 113,338,510 (GRCm39) missense probably benign 0.05
R7525:2900026A02Rik UTSW 5 113,331,221 (GRCm39) missense probably damaging 0.99
R7707:2900026A02Rik UTSW 5 113,285,852 (GRCm39) start codon destroyed probably benign 0.14
R7848:2900026A02Rik UTSW 5 113,340,007 (GRCm39) missense probably damaging 0.96
R7869:2900026A02Rik UTSW 5 113,332,001 (GRCm39) missense possibly damaging 0.47
R7871:2900026A02Rik UTSW 5 113,331,092 (GRCm39) missense probably benign 0.02
R8327:2900026A02Rik UTSW 5 113,331,685 (GRCm39) missense possibly damaging 0.94
R8411:2900026A02Rik UTSW 5 113,285,588 (GRCm39) missense probably benign
R8429:2900026A02Rik UTSW 5 113,331,302 (GRCm39) missense probably benign 0.29
R8940:2900026A02Rik UTSW 5 113,241,068 (GRCm39) missense probably benign 0.07
R9065:2900026A02Rik UTSW 5 113,323,084 (GRCm39) missense probably benign 0.00
R9096:2900026A02Rik UTSW 5 113,339,793 (GRCm39) missense
R9182:2900026A02Rik UTSW 5 113,243,473 (GRCm39) missense probably damaging 1.00
R9191:2900026A02Rik UTSW 5 113,330,564 (GRCm39) missense probably benign 0.34
R9330:2900026A02Rik UTSW 5 113,330,833 (GRCm39) missense probably benign 0.14
R9336:2900026A02Rik UTSW 5 113,240,966 (GRCm39) critical splice donor site probably null
R9375:2900026A02Rik UTSW 5 113,332,567 (GRCm39) missense probably benign
R9388:2900026A02Rik UTSW 5 113,338,714 (GRCm39) missense probably benign 0.00
R9483:2900026A02Rik UTSW 5 113,339,010 (GRCm39) missense probably benign 0.01
R9529:2900026A02Rik UTSW 5 113,331,682 (GRCm39) missense possibly damaging 0.61
R9675:2900026A02Rik UTSW 5 113,339,827 (GRCm39) missense probably damaging 1.00
R9784:2900026A02Rik UTSW 5 113,338,527 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GATTCAGAACACATTCAAGACCCTG -3'
(R):5'- CCCTGAGAACACCCCTTATG -3'

Sequencing Primer
(F):5'- CTGCTTACACCAAGTTCTACAGGATG -3'
(R):5'- TGCAGACCCTCCGCTTACAG -3'
Posted On 2015-06-24