Incidental Mutation 'IGL03031:Rpgrip1l'
ID 408453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03031
Quality Score
Status
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91987411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 882 (V882E)
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect probably damaging
Transcript: ENSMUST00000047783
AA Change: V882E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: V882E

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
coiled coil region 196 268 N/A INTRINSIC
coiled coil region 299 371 N/A INTRINSIC
coiled coil region 395 454 N/A INTRINSIC
coiled coil region 520 556 N/A INTRINSIC
Pfam:C2-C2_1 597 738 5.8e-61 PFAM
low complexity region 769 778 N/A INTRINSIC
C2 791 896 1.06e-5 SMART
low complexity region 989 1000 N/A INTRINSIC
low complexity region 1057 1080 N/A INTRINSIC
Blast:C2 1098 1223 3e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000139113
SMART Domains Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210054
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,183 (GRCm39) D753G probably benign Het
Adat2 T C 10: 13,432,590 (GRCm39) probably benign Het
Ahsa2 A G 11: 23,440,426 (GRCm39) L275S probably benign Het
Arhgef38 C T 3: 132,837,828 (GRCm39) D118N possibly damaging Het
Bicra A T 7: 15,709,726 (GRCm39) H1097Q probably benign Het
C4b T C 17: 34,950,104 (GRCm39) T1389A possibly damaging Het
Cd180 A G 13: 102,841,535 (GRCm39) S194G probably benign Het
Chgb C A 2: 132,635,434 (GRCm39) Q459K probably benign Het
Clvs1 G T 4: 9,449,385 (GRCm39) probably benign Het
Cpox G A 16: 58,492,923 (GRCm39) G186R probably damaging Het
Cul5 A G 9: 53,553,975 (GRCm39) probably benign Het
Epsti1 G A 14: 78,212,021 (GRCm39) R249K probably benign Het
Gabrg1 A T 5: 70,952,025 (GRCm39) Y90* probably null Het
Gabrp T C 11: 33,504,980 (GRCm39) R274G probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Hectd4 C T 5: 121,486,857 (GRCm39) T3284M possibly damaging Het
Hoxc9 T C 15: 102,892,522 (GRCm39) M245T probably damaging Het
Lpar6 T C 14: 73,476,882 (GRCm39) V281A possibly damaging Het
Med18 G T 4: 132,186,924 (GRCm39) Q192K possibly damaging Het
Mis18bp1 A G 12: 65,208,704 (GRCm39) V3A probably benign Het
Mpped2 G T 2: 106,613,968 (GRCm39) probably benign Het
Ms4a10 A G 19: 10,946,035 (GRCm39) V32A probably benign Het
Mthfd1l T A 10: 3,968,601 (GRCm39) probably null Het
Myh1 A T 11: 67,097,213 (GRCm39) Q422L possibly damaging Het
Myo3b A T 2: 70,085,721 (GRCm39) Q819L possibly damaging Het
Ncoa1 G A 12: 4,324,818 (GRCm39) T921I possibly damaging Het
Or10d4b A G 9: 39,534,694 (GRCm39) I92V probably damaging Het
Or6c214 A G 10: 129,591,238 (GRCm39) L27P possibly damaging Het
Or8c16 A C 9: 38,130,361 (GRCm39) T81P probably damaging Het
Phf3 A G 1: 30,843,734 (GRCm39) S1742P probably benign Het
Plxdc2 G A 2: 16,655,043 (GRCm39) probably null Het
Poc5 A G 13: 96,538,123 (GRCm39) T263A probably benign Het
Prss41 T A 17: 24,061,396 (GRCm39) I132F probably damaging Het
Pxylp1 A G 9: 96,707,195 (GRCm39) I329T probably benign Het
Rbm27 T C 18: 42,466,464 (GRCm39) probably null Het
Rnps1-ps T C 6: 7,982,857 (GRCm39) noncoding transcript Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Senp7 A G 16: 55,996,249 (GRCm39) E776G probably damaging Het
Smc2 A G 4: 52,449,638 (GRCm39) I207V probably benign Het
Spata31e5 A G 1: 28,817,664 (GRCm39) F123L probably benign Het
Spats2 A G 15: 99,078,569 (GRCm39) T211A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Syt11 A T 3: 88,656,148 (GRCm39) M1K probably null Het
Tacc2 A G 7: 130,225,585 (GRCm39) T757A possibly damaging Het
Tecta A C 9: 42,256,789 (GRCm39) M1629R probably benign Het
Ufsp2 T A 8: 46,437,137 (GRCm39) I101N probably damaging Het
Unc13b T A 4: 43,235,368 (GRCm39) C892S probably damaging Het
Ush1c A G 7: 45,874,361 (GRCm39) probably benign Het
Vwde A T 6: 13,208,381 (GRCm39) V167E probably benign Het
Wdfy4 A G 14: 32,862,608 (GRCm39) L588P probably damaging Het
Zfyve1 T C 12: 83,621,595 (GRCm39) T267A probably damaging Het
Other mutations in Rpgrip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rpgrip1l APN 8 91,990,202 (GRCm39) missense possibly damaging 0.52
IGL00932:Rpgrip1l APN 8 92,002,265 (GRCm39) missense probably benign 0.33
IGL01113:Rpgrip1l APN 8 91,987,367 (GRCm39) intron probably benign
IGL01151:Rpgrip1l APN 8 92,001,777 (GRCm39) missense probably damaging 1.00
IGL01321:Rpgrip1l APN 8 91,987,501 (GRCm39) nonsense probably null
IGL01384:Rpgrip1l APN 8 92,000,268 (GRCm39) missense probably benign 0.00
IGL01634:Rpgrip1l APN 8 91,979,172 (GRCm39) missense probably benign 0.25
IGL01634:Rpgrip1l APN 8 91,979,171 (GRCm39) missense probably benign
IGL01781:Rpgrip1l APN 8 91,996,846 (GRCm39) missense probably benign 0.16
IGL01784:Rpgrip1l APN 8 91,997,089 (GRCm39) missense possibly damaging 0.56
IGL02034:Rpgrip1l APN 8 91,977,776 (GRCm39) critical splice donor site probably null
IGL02250:Rpgrip1l APN 8 91,959,489 (GRCm39) missense probably benign 0.00
IGL02285:Rpgrip1l APN 8 91,959,535 (GRCm39) missense possibly damaging 0.92
IGL02634:Rpgrip1l APN 8 91,951,972 (GRCm39) splice site probably benign
IGL02736:Rpgrip1l APN 8 91,990,219 (GRCm39) missense possibly damaging 0.91
IGL02825:Rpgrip1l APN 8 92,031,433 (GRCm39) missense possibly damaging 0.67
IGL02962:Rpgrip1l APN 8 91,996,990 (GRCm39) missense possibly damaging 0.95
IGL03184:Rpgrip1l APN 8 92,027,437 (GRCm39) missense probably damaging 1.00
P0005:Rpgrip1l UTSW 8 92,025,853 (GRCm39) splice site probably benign
R0118:Rpgrip1l UTSW 8 91,996,750 (GRCm39) missense probably damaging 1.00
R0490:Rpgrip1l UTSW 8 92,026,473 (GRCm39) splice site probably benign
R0599:Rpgrip1l UTSW 8 92,031,628 (GRCm39) missense probably damaging 1.00
R1514:Rpgrip1l UTSW 8 91,987,378 (GRCm39) missense probably damaging 1.00
R1648:Rpgrip1l UTSW 8 91,979,517 (GRCm39) missense probably damaging 1.00
R1914:Rpgrip1l UTSW 8 91,959,552 (GRCm39) missense probably benign 0.13
R1915:Rpgrip1l UTSW 8 91,959,552 (GRCm39) missense probably benign 0.13
R2093:Rpgrip1l UTSW 8 91,996,760 (GRCm39) missense possibly damaging 0.87
R2225:Rpgrip1l UTSW 8 91,948,095 (GRCm39) missense probably benign 0.45
R2504:Rpgrip1l UTSW 8 92,007,344 (GRCm39) critical splice donor site probably null
R3859:Rpgrip1l UTSW 8 91,990,286 (GRCm39) missense probably benign 0.00
R4118:Rpgrip1l UTSW 8 91,979,535 (GRCm39) missense probably benign
R4801:Rpgrip1l UTSW 8 91,996,805 (GRCm39) missense probably damaging 1.00
R4802:Rpgrip1l UTSW 8 91,996,805 (GRCm39) missense probably damaging 1.00
R4921:Rpgrip1l UTSW 8 91,987,637 (GRCm39) missense probably benign 0.05
R4976:Rpgrip1l UTSW 8 92,007,444 (GRCm39) missense probably damaging 1.00
R5092:Rpgrip1l UTSW 8 91,948,012 (GRCm39) nonsense probably null
R5099:Rpgrip1l UTSW 8 91,975,350 (GRCm39) missense probably benign 0.20
R5119:Rpgrip1l UTSW 8 92,007,444 (GRCm39) missense probably damaging 1.00
R5141:Rpgrip1l UTSW 8 91,987,546 (GRCm39) missense probably benign 0.29
R5793:Rpgrip1l UTSW 8 91,987,400 (GRCm39) missense probably benign 0.06
R5847:Rpgrip1l UTSW 8 92,031,613 (GRCm39) missense probably damaging 1.00
R5871:Rpgrip1l UTSW 8 91,948,014 (GRCm39) missense possibly damaging 0.89
R5916:Rpgrip1l UTSW 8 91,979,541 (GRCm39) missense possibly damaging 0.93
R6619:Rpgrip1l UTSW 8 91,959,499 (GRCm39) missense possibly damaging 0.69
R6654:Rpgrip1l UTSW 8 91,946,833 (GRCm39) missense probably benign 0.36
R6956:Rpgrip1l UTSW 8 92,012,941 (GRCm39) splice site probably null
R6984:Rpgrip1l UTSW 8 91,987,426 (GRCm39) missense probably benign 0.03
R7064:Rpgrip1l UTSW 8 91,990,148 (GRCm39) nonsense probably null
R7145:Rpgrip1l UTSW 8 91,959,434 (GRCm39) critical splice donor site probably null
R7243:Rpgrip1l UTSW 8 91,996,751 (GRCm39) missense probably benign 0.00
R7673:Rpgrip1l UTSW 8 92,027,415 (GRCm39) missense possibly damaging 0.89
R7796:Rpgrip1l UTSW 8 91,996,865 (GRCm39) missense probably damaging 1.00
R8684:Rpgrip1l UTSW 8 92,000,329 (GRCm39) missense probably benign 0.00
R8769:Rpgrip1l UTSW 8 91,979,212 (GRCm39) splice site probably benign
R8955:Rpgrip1l UTSW 8 92,007,456 (GRCm39) missense possibly damaging 0.67
R9006:Rpgrip1l UTSW 8 92,007,436 (GRCm39) missense probably benign
R9085:Rpgrip1l UTSW 8 92,014,303 (GRCm39) missense possibly damaging 0.68
R9188:Rpgrip1l UTSW 8 92,031,638 (GRCm39) missense probably damaging 1.00
R9258:Rpgrip1l UTSW 8 91,987,614 (GRCm39) nonsense probably null
R9268:Rpgrip1l UTSW 8 92,007,355 (GRCm39) missense probably benign
R9366:Rpgrip1l UTSW 8 91,996,809 (GRCm39) nonsense probably null
R9547:Rpgrip1l UTSW 8 91,977,873 (GRCm39) missense probably benign 0.00
R9565:Rpgrip1l UTSW 8 92,031,516 (GRCm39) missense probably benign 0.05
R9582:Rpgrip1l UTSW 8 91,996,886 (GRCm39) missense probably benign 0.03
R9604:Rpgrip1l UTSW 8 92,031,433 (GRCm39) missense possibly damaging 0.67
R9614:Rpgrip1l UTSW 8 91,987,434 (GRCm39) missense possibly damaging 0.79
R9697:Rpgrip1l UTSW 8 91,987,391 (GRCm39) missense possibly damaging 0.49
Z1088:Rpgrip1l UTSW 8 91,996,748 (GRCm39) missense possibly damaging 0.89
Z1088:Rpgrip1l UTSW 8 91,987,603 (GRCm39) missense possibly damaging 0.96
Z1088:Rpgrip1l UTSW 8 91,946,807 (GRCm39) makesense probably null
Posted On 2016-08-02