Incidental Mutation 'IGL02447:Ripor3'
ID294026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor3
Ensembl Gene ENSMUSG00000074577
Gene NameRIPOR family member 3
Synonyms2310033K02Rik, Fam65c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL02447
Quality Score
Status
Chromosome2
Chromosomal Location167980164-168010618 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 167992830 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 247 (T247N)
Ref Sequence ENSEMBL: ENSMUSP00000096672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099073]
Predicted Effect probably damaging
Transcript: ENSMUST00000099073
AA Change: T247N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: T247N

DomainStartEndE-ValueType
Pfam:PL48 19 363 3.5e-169 PFAM
low complexity region 414 423 N/A INTRINSIC
low complexity region 445 455 N/A INTRINSIC
low complexity region 496 513 N/A INTRINSIC
low complexity region 582 602 N/A INTRINSIC
SCOP:d1gw5a_ 794 909 6e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142702
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,100,459 S73C probably damaging Het
Abhd18 T A 3: 40,933,773 F351I probably benign Het
Agfg1 T A 1: 82,882,223 probably benign Het
Antxr2 C T 5: 98,030,408 V48I possibly damaging Het
Bcl9l T C 9: 44,507,334 M823T probably benign Het
Card11 G A 5: 140,906,924 H129Y possibly damaging Het
Ccr1 A T 9: 123,963,716 V259E probably benign Het
Cdk13 G T 13: 17,772,416 P586T probably benign Het
Cep295 C T 9: 15,332,511 V1502I probably damaging Het
Csnk1g3 T C 18: 53,895,870 S32P probably benign Het
Dpysl4 G A 7: 139,098,600 R492Q probably damaging Het
Duox2 A G 2: 122,297,468 L78P probably damaging Het
Gm436 T A 4: 144,674,699 I72F probably benign Het
Gm7361 T C 5: 26,257,855 S32P probably benign Het
Grip1 T A 10: 120,020,071 V234E probably damaging Het
Herc1 A T 9: 66,497,328 I4477L possibly damaging Het
Il18r1 G A 1: 40,498,337 probably null Het
Itpkb A G 1: 180,421,354 probably benign Het
Jag2 T C 12: 112,912,612 Y799C probably damaging Het
Jak2 A G 19: 29,299,614 K857R probably damaging Het
Kbtbd12 A T 6: 88,618,694 S51R probably damaging Het
Kcnc2 T G 10: 112,455,946 D346E probably damaging Het
Kcnh1 T A 1: 192,224,916 M92K possibly damaging Het
Kcnk1 A G 8: 126,025,080 I142V probably damaging Het
Lsm11 T C 11: 45,937,364 N196D probably damaging Het
Mpeg1 G T 19: 12,462,792 C538F probably damaging Het
Nrap G A 19: 56,345,519 Q969* probably null Het
Nup205 T C 6: 35,227,576 probably null Het
Pdcd5 A G 7: 35,642,685 V166A possibly damaging Het
Plcb2 A T 2: 118,713,155 I745N probably damaging Het
Ptprt T C 2: 162,278,107 T147A probably benign Het
Rbp3 A T 14: 33,954,503 D136V probably damaging Het
Sgcd A C 11: 46,979,255 probably benign Het
Slc26a6 T C 9: 108,857,052 Y211H probably benign Het
Slc37a3 T A 6: 39,337,195 E494D probably benign Het
Smc5 T C 19: 23,257,492 E326G probably benign Het
Tctn2 T C 5: 124,615,253 noncoding transcript Het
Tk2 T A 8: 104,241,138 N93I probably damaging Het
Tmed6 A G 8: 107,065,608 F2L possibly damaging Het
Tox3 A G 8: 90,258,153 probably benign Het
Tspan9 T C 6: 127,964,438 Y237C probably benign Het
Ubqlnl A G 7: 104,148,649 L547P probably damaging Het
Uggt1 T C 1: 36,150,142 D1421G probably damaging Het
Unc80 T A 1: 66,503,544 I319K possibly damaging Het
Vac14 A G 8: 110,653,628 D441G probably benign Het
Vamp8 C T 6: 72,388,333 V5M probably damaging Het
Yeats2 T A 16: 20,193,679 H560Q probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp773 G T 7: 7,136,656 probably benign Het
Other mutations in Ripor3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Ripor3 APN 2 167993575 missense probably benign 0.05
IGL01621:Ripor3 APN 2 167997252 missense probably damaging 0.97
IGL01819:Ripor3 APN 2 167980843 missense probably damaging 0.99
IGL01891:Ripor3 APN 2 167983151 missense possibly damaging 0.95
IGL02110:Ripor3 APN 2 167994706 missense possibly damaging 0.95
IGL02270:Ripor3 APN 2 167993496 missense probably damaging 0.97
IGL02403:Ripor3 APN 2 167989330 missense probably damaging 1.00
IGL02445:Ripor3 APN 2 167992762 splice site probably benign
IGL02711:Ripor3 APN 2 168006280 utr 5 prime probably benign
IGL03187:Ripor3 APN 2 167985668 missense possibly damaging 0.64
IGL03304:Ripor3 APN 2 167980928 splice site probably benign
R0062:Ripor3 UTSW 2 167984438 splice site probably benign
R0062:Ripor3 UTSW 2 167984438 splice site probably benign
R0233:Ripor3 UTSW 2 167992598 missense probably damaging 1.00
R0233:Ripor3 UTSW 2 167992598 missense probably damaging 1.00
R0387:Ripor3 UTSW 2 167983772 nonsense probably null
R1457:Ripor3 UTSW 2 167992653 missense probably damaging 1.00
R1481:Ripor3 UTSW 2 168000377 missense possibly damaging 0.95
R1619:Ripor3 UTSW 2 167980845 missense probably damaging 0.96
R2358:Ripor3 UTSW 2 167983865 splice site probably benign
R2431:Ripor3 UTSW 2 167989795 missense probably benign 0.06
R2943:Ripor3 UTSW 2 167983761 missense possibly damaging 0.46
R3000:Ripor3 UTSW 2 167991180 missense probably damaging 1.00
R3730:Ripor3 UTSW 2 167992819 missense probably damaging 1.00
R3731:Ripor3 UTSW 2 167992819 missense probably damaging 1.00
R4084:Ripor3 UTSW 2 167984466 missense possibly damaging 0.55
R4796:Ripor3 UTSW 2 167981340 missense probably damaging 0.97
R4854:Ripor3 UTSW 2 167992813 missense probably benign 0.05
R4934:Ripor3 UTSW 2 167982816 missense probably benign
R4968:Ripor3 UTSW 2 167985117 missense probably benign 0.41
R5662:Ripor3 UTSW 2 167993556 missense probably benign 0.01
R5739:Ripor3 UTSW 2 167981283 missense probably damaging 1.00
R5888:Ripor3 UTSW 2 167997287 missense probably damaging 1.00
R6844:Ripor3 UTSW 2 167993333 splice site probably null
R6969:Ripor3 UTSW 2 167985737 missense probably benign 0.01
R6994:Ripor3 UTSW 2 167997266 missense probably damaging 0.99
R7609:Ripor3 UTSW 2 167984570 missense possibly damaging 0.86
R7818:Ripor3 UTSW 2 167989426 missense probably benign 0.09
R8329:Ripor3 UTSW 2 167983199 missense possibly damaging 0.89
Posted On2015-04-16