Incidental Mutation 'R5793:Rpgrip1l'
ID 447078
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 043208-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5793 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91987400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 886 (S886P)
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect probably benign
Transcript: ENSMUST00000047783
AA Change: S886P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: S886P

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12 C A 11: 70,133,879 (GRCm39) R522L probably benign Het
Arfgef1 A T 1: 10,279,753 (GRCm39) D271E probably benign Het
Arg1 C T 10: 24,796,540 (GRCm39) V96M probably benign Het
Axin1 T C 17: 26,362,282 (GRCm39) S209P probably damaging Het
B4galnt3 A G 6: 120,185,865 (GRCm39) probably null Het
Cdh23 T A 10: 60,141,907 (GRCm39) D3058V probably damaging Het
Chd9 A G 8: 91,728,384 (GRCm39) T794A probably damaging Het
Ckap5 C T 2: 91,450,180 (GRCm39) T1891I possibly damaging Het
Cspg4b G T 13: 113,457,556 (GRCm39) V1201L possibly damaging Het
Dzank1 T C 2: 144,348,144 (GRCm39) I207M probably benign Het
Fkbp9 G A 6: 56,850,498 (GRCm39) probably null Het
Gm4781 T A 10: 100,232,529 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtpbp6 G A 5: 110,255,094 (GRCm39) L33F probably benign Het
Hsd11b1 A C 1: 192,924,492 (GRCm39) F27V probably damaging Het
Ift172 A T 5: 31,434,292 (GRCm39) I482N possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Ly6g2 T C 15: 75,093,493 (GRCm39) probably benign Het
Myh9 T C 15: 77,653,077 (GRCm39) Q1420R probably benign Het
Ncam2 G A 16: 81,372,991 (GRCm39) V569I possibly damaging Het
Nsd1 T C 13: 55,395,819 (GRCm39) V1140A probably benign Het
Ogdhl T A 14: 32,054,730 (GRCm39) L226Q probably damaging Het
Or51a24 T C 7: 103,734,237 (GRCm39) T17A probably benign Het
Orc2 T C 1: 58,536,547 (GRCm39) M1V probably null Het
Padi2 T C 4: 140,660,501 (GRCm39) L327P probably benign Het
Palb2 T C 7: 121,726,860 (GRCm39) N337D probably benign Het
Pard3b A T 1: 61,807,132 (GRCm39) H49L probably damaging Het
Pigz T C 16: 31,764,285 (GRCm39) S448P probably benign Het
Ppfia4 A G 1: 134,239,844 (GRCm39) V911A probably damaging Het
Prr5 T A 15: 84,656,223 (GRCm39) M408K probably benign Het
Qser1 T C 2: 104,593,205 (GRCm39) Y1604C probably damaging Het
Sdk2 T C 11: 113,759,778 (GRCm39) I408V possibly damaging Het
Sema7a A T 9: 57,867,540 (GRCm39) R431W probably damaging Het
Slc22a30 T A 19: 8,314,183 (GRCm39) Y501F possibly damaging Het
Slitrk5 T A 14: 111,917,345 (GRCm39) V323D probably damaging Het
Snap47 C T 11: 59,329,018 (GRCm39) E95K probably damaging Het
Tbc1d9 A T 8: 83,998,069 (GRCm39) I1209F probably damaging Het
Tek T A 4: 94,708,333 (GRCm39) M297K probably benign Het
Tmem132e T A 11: 82,335,684 (GRCm39) I922N probably damaging Het
Tmx2 T C 2: 84,506,501 (GRCm39) R64G probably damaging Het
Trim68 A T 7: 102,333,560 (GRCm39) S41T possibly damaging Het
Tsga10 A T 1: 37,874,540 (GRCm39) M115K probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r84 C T 10: 130,221,754 (GRCm39) C822Y probably damaging Het
Wdr72 C T 9: 74,117,625 (GRCm39) A779V probably benign Het
Zfp580 A T 7: 5,055,891 (GRCm39) probably benign Het
Zfp772 G A 7: 7,207,283 (GRCm39) T136I probably benign 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
IGL03031:Rpgrip1l APN 8 91,987,411 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAAATGCTGTGGTTTCAAGCAAG -3'
(R):5'- TGATTTTCCAGACCATGATACCGC -3'

Sequencing Primer
(F):5'- CTGTGGTTTCAAGCAAGGAAATAAC -3'
(R):5'- GCCATCGTTCCCAGTAGCAATG -3'
Posted On 2016-12-15