Incidental Mutation 'IGL02270:Ripor3'
ID287095
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: 0.083) question?
Stock #IGL02270
Quality Score
Status
Chromosome2
Chromosomal Location167980164-168010618 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 167993496 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 185 (E185G)
Ref Sequence ENSEMBL: ENSMUSP00000096672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099073]
Predicted Effect probably damaging
Transcript: ENSMUST00000099073
AA Change: E185G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: E185G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,559,195 probably null Het
Bmi1 T A 2: 18,684,458 S318T probably benign Het
Cntnap5c G A 17: 58,034,853 V180I probably benign Het
Cyp2b10 A G 7: 25,913,937 E186G probably damaging Het
Ddx25 G T 9: 35,554,412 probably benign Het
Dis3 A G 14: 99,078,354 F901L probably benign Het
Dnah7a T A 1: 53,472,893 N3003I possibly damaging Het
Ebf2 A G 14: 67,238,953 D124G probably damaging Het
Efcab5 A T 11: 77,104,313 I1144N probably damaging Het
Exoc4 G A 6: 33,580,026 V489I possibly damaging Het
Garem1 A G 18: 21,148,450 V283A probably damaging Het
Gfra2 G A 14: 70,925,907 R210H possibly damaging Het
Gli3 T C 13: 15,726,786 probably benign Het
Gm7247 A T 14: 51,521,884 M107L probably benign Het
Map2k5 A T 9: 63,322,197 probably null Het
Mki67 C T 7: 135,698,632 D1558N probably damaging Het
Mylk4 A G 13: 32,729,066 probably benign Het
Olfr1 A G 11: 73,395,365 V219A probably benign Het
Olfr112 G T 17: 37,563,580 H244N possibly damaging Het
Olfr2 A T 7: 107,001,423 C146S probably damaging Het
Olfr669 A G 7: 104,939,369 N281S possibly damaging Het
Plcd1 T C 9: 119,084,641 T50A probably damaging Het
Rasgrp3 A G 17: 75,516,373 R480G probably benign Het
S1pr3 T C 13: 51,419,056 I91T probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 T C 13: 58,580,584 T104A probably benign Het
Slc6a11 A G 6: 114,238,396 D419G probably damaging Het
St3gal2 A G 8: 110,957,766 I19V probably benign Het
Sycp1 C A 3: 102,895,943 C517F probably benign Het
Trav15-1-dv6-1 G A 14: 53,559,998 E35K possibly damaging Het
Vmn1r121 T C 7: 21,098,476 E13G probably damaging Het
Vmn1r199 T A 13: 22,383,006 S114T probably damaging Het
Vmn2r-ps159 T C 4: 156,334,655 noncoding transcript 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
IGL02403:Ripor3 APN 2 167989330 missense probably damaging 1.00
IGL02445:Ripor3 APN 2 167992762 splice site probably benign
IGL02447:Ripor3 APN 2 167992830 missense probably damaging 0.99
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
Posted On2015-04-16