Incidental Mutation 'IGL01621:Ripor3'
ID 92572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripor3
Ensembl Gene ENSMUSG00000074577
Gene Name RIPOR family member 3
Synonyms Fam65c, 2310033K02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01621
Quality Score
Status
Chromosome 2
Chromosomal Location 167822084-167852538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 167839172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 110 (S110T)
Ref Sequence ENSEMBL: ENSMUSP00000096672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099073]
AlphaFold A1L3T7
Predicted Effect probably damaging
Transcript: ENSMUST00000099073
AA Change: S110T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: S110T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Ripor3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Ripor3 APN 2 167,835,495 (GRCm39) missense probably benign 0.05
IGL01819:Ripor3 APN 2 167,822,763 (GRCm39) missense probably damaging 0.99
IGL01891:Ripor3 APN 2 167,825,071 (GRCm39) missense possibly damaging 0.95
IGL02110:Ripor3 APN 2 167,836,626 (GRCm39) missense possibly damaging 0.95
IGL02270:Ripor3 APN 2 167,835,416 (GRCm39) missense probably damaging 0.97
IGL02403:Ripor3 APN 2 167,831,250 (GRCm39) missense probably damaging 1.00
IGL02445:Ripor3 APN 2 167,834,682 (GRCm39) splice site probably benign
IGL02447:Ripor3 APN 2 167,834,750 (GRCm39) missense probably damaging 0.99
IGL02711:Ripor3 APN 2 167,848,200 (GRCm39) utr 5 prime probably benign
IGL03187:Ripor3 APN 2 167,827,588 (GRCm39) missense possibly damaging 0.64
IGL03304:Ripor3 APN 2 167,822,848 (GRCm39) splice site probably benign
R0062:Ripor3 UTSW 2 167,826,358 (GRCm39) splice site probably benign
R0062:Ripor3 UTSW 2 167,826,358 (GRCm39) splice site probably benign
R0233:Ripor3 UTSW 2 167,834,518 (GRCm39) missense probably damaging 1.00
R0233:Ripor3 UTSW 2 167,834,518 (GRCm39) missense probably damaging 1.00
R0387:Ripor3 UTSW 2 167,825,692 (GRCm39) nonsense probably null
R1457:Ripor3 UTSW 2 167,834,573 (GRCm39) missense probably damaging 1.00
R1481:Ripor3 UTSW 2 167,842,297 (GRCm39) missense possibly damaging 0.95
R1619:Ripor3 UTSW 2 167,822,765 (GRCm39) missense probably damaging 0.96
R2358:Ripor3 UTSW 2 167,825,785 (GRCm39) splice site probably benign
R2431:Ripor3 UTSW 2 167,831,715 (GRCm39) missense probably benign 0.06
R2943:Ripor3 UTSW 2 167,825,681 (GRCm39) missense possibly damaging 0.46
R3000:Ripor3 UTSW 2 167,833,100 (GRCm39) missense probably damaging 1.00
R3730:Ripor3 UTSW 2 167,834,739 (GRCm39) missense probably damaging 1.00
R3731:Ripor3 UTSW 2 167,834,739 (GRCm39) missense probably damaging 1.00
R4084:Ripor3 UTSW 2 167,826,386 (GRCm39) missense possibly damaging 0.55
R4796:Ripor3 UTSW 2 167,823,260 (GRCm39) missense probably damaging 0.97
R4854:Ripor3 UTSW 2 167,834,733 (GRCm39) missense probably benign 0.05
R4934:Ripor3 UTSW 2 167,824,736 (GRCm39) missense probably benign
R4968:Ripor3 UTSW 2 167,827,037 (GRCm39) missense probably benign 0.41
R5662:Ripor3 UTSW 2 167,835,476 (GRCm39) missense probably benign 0.01
R5739:Ripor3 UTSW 2 167,823,203 (GRCm39) missense probably damaging 1.00
R5888:Ripor3 UTSW 2 167,839,207 (GRCm39) missense probably damaging 1.00
R6844:Ripor3 UTSW 2 167,835,253 (GRCm39) splice site probably null
R6969:Ripor3 UTSW 2 167,827,657 (GRCm39) missense probably benign 0.01
R6994:Ripor3 UTSW 2 167,839,186 (GRCm39) missense probably damaging 0.99
R7609:Ripor3 UTSW 2 167,826,490 (GRCm39) missense possibly damaging 0.86
R7818:Ripor3 UTSW 2 167,831,346 (GRCm39) missense probably benign 0.09
R8175:Ripor3 UTSW 2 167,825,679 (GRCm39) missense probably benign 0.00
R8329:Ripor3 UTSW 2 167,825,119 (GRCm39) missense possibly damaging 0.89
R9120:Ripor3 UTSW 2 167,822,835 (GRCm39) missense possibly damaging 0.79
R9130:Ripor3 UTSW 2 167,823,267 (GRCm39) nonsense probably null
R9408:Ripor3 UTSW 2 167,831,238 (GRCm39) missense probably benign 0.09
R9550:Ripor3 UTSW 2 167,822,807 (GRCm39) missense probably benign 0.23
R9660:Ripor3 UTSW 2 167,831,646 (GRCm39) missense probably damaging 0.97
Posted On 2013-12-09