Incidental Mutation 'R1394:2900026A02Rik'
ID 162737
Institutional Source Beutler Lab
Gene Symbol 2900026A02Rik
Ensembl Gene ENSMUSG00000051339
Gene Name RIKEN cDNA 2900026A02 gene
Synonyms LOC231620, Gm449
MMRRC Submission 039456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R1394 (G1)
Quality Score 135
Status Not validated
Chromosome 5
Chromosomal Location 113234189-113369102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113249362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 122 (Y122H)
Ref Sequence ENSEMBL: ENSMUSP00000148442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050125] [ENSMUST00000211733] [ENSMUST00000212276]
AlphaFold Q8BRV5
Predicted Effect probably damaging
Transcript: ENSMUST00000050125
AA Change: Y45H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058789
Gene: ENSMUSG00000051339
AA Change: Y45H

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 damaging
Transcript: ENSMUST00000211733
AA Change: Y1504H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212276
AA Change: Y122H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1231 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Casd1 T G 6: 4,624,117 (GRCm39) C303W probably damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Cep290 T C 10: 100,373,391 (GRCm39) S1224P possibly damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Cwc22 G A 2: 77,759,823 (GRCm39) R75C possibly damaging Het
Cyp4a30b A T 4: 115,328,089 (GRCm39) probably null Het
Dnah11 T C 12: 117,936,099 (GRCm39) D3298G possibly damaging Het
Drc3 T C 11: 60,284,545 (GRCm39) I450T possibly damaging Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fkbp15 T A 4: 62,246,109 (GRCm39) M440L probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Ipp T A 4: 116,395,109 (GRCm39) L548* probably null Het
Itm2a C T X: 106,441,807 (GRCm39) V200I possibly damaging Het
Kank1 A G 19: 25,405,528 (GRCm39) N1182S probably damaging Het
Mkks C T 2: 136,722,882 (GRCm39) G92S probably damaging Het
Mybbp1a C T 11: 72,334,474 (GRCm39) P243L probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Pcdh12 A G 18: 38,414,242 (GRCm39) probably null Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Phlpp2 T A 8: 110,603,662 (GRCm39) C109* probably null Het
Prickle2 T A 6: 92,353,363 (GRCm39) H701L possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Psg19 T C 7: 18,530,983 (GRCm39) N57S probably damaging Het
Rdh12 A G 12: 79,255,839 (GRCm39) T9A probably benign Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Scyl2 T A 10: 89,476,827 (GRCm39) K766M possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Spin1 T C 13: 51,298,517 (GRCm39) Y179H probably damaging Het
Tecpr1 T C 5: 144,143,357 (GRCm39) T673A possibly damaging Het
Tenm3 T A 8: 48,729,435 (GRCm39) M1508L probably benign Het
Vasn C T 16: 4,467,576 (GRCm39) R508* probably null Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Zfand1 G T 3: 10,411,269 (GRCm39) T62K probably benign Het
Zfy1 C T Y: 725,957 (GRCm39) V603I possibly damaging 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
R1395:2900026A02Rik UTSW 5 113,249,362 (GRCm39) missense probably damaging 1.00
R4329:2900026A02Rik UTSW 5 113,243,455 (GRCm39) critical splice donor site probably null
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'- CTGACTGTCCAGACTGCTTGCC -3'
(R):5'- TCTCCTTTGCGCTAACATGGGAAG -3'

Sequencing Primer
(F):5'- caaggcaggggaagcaag -3'
(R):5'- CTAACATGGGAAGCAGCGG -3'
Posted On 2014-03-17