Incidental Mutation 'R2504:Rpgrip1l'
ID 252175
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 040412-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2504 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 92007344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113]
AlphaFold Q8CG73
Predicted Effect probably null
Transcript: ENSMUST00000047783
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282

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 noncoding transcript
Transcript: ENSMUST00000136198
Predicted Effect probably benign
Transcript: ENSMUST00000139113
SMART Domains Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211185
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,681 (GRCm39) D28G probably benign Het
Abcg1 T A 17: 31,311,369 (GRCm39) S125T probably damaging Het
Actbl2 T C 13: 111,392,717 (GRCm39) S351P possibly damaging Het
Ankrd34b A G 13: 92,575,569 (GRCm39) probably null Het
BC051665 C T 13: 60,930,468 (GRCm39) V295I probably benign Het
C1qtnf2 A G 11: 43,381,983 (GRCm39) N265S probably damaging Het
Ccdc14 C T 16: 34,542,220 (GRCm39) R573* probably null Het
Cd55b A T 1: 130,337,612 (GRCm39) Y247N probably damaging Het
Celsr2 A T 3: 108,320,907 (GRCm39) V635E probably benign Het
Clec16a T C 16: 10,377,551 (GRCm39) probably benign Het
Clec4b1 A G 6: 123,042,904 (GRCm39) Y41C probably damaging Het
Cntn5 A T 9: 10,172,126 (GRCm39) D19E probably benign Het
Cop1 A G 1: 159,060,375 (GRCm39) N53S probably damaging Het
Cplane1 G A 15: 8,248,700 (GRCm39) E1750K probably damaging Het
Csad A T 15: 102,097,102 (GRCm39) M1K probably null Het
Cyb5rl A G 4: 106,938,142 (GRCm39) I200V probably benign Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Cyp2d12 A T 15: 82,443,237 (GRCm39) H433L probably benign Het
D7Ertd443e T A 7: 133,951,208 (GRCm39) probably null Het
Dennd1b A G 1: 139,097,908 (GRCm39) probably benign Het
Dmap1 G T 4: 117,532,495 (GRCm39) T357K probably damaging Het
Dzip1 G T 14: 119,118,456 (GRCm39) T759K probably benign Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml5 T C 12: 98,810,364 (GRCm39) D864G possibly damaging Het
Ep400 A G 5: 110,816,511 (GRCm39) V2670A probably damaging Het
Epha3 T A 16: 63,423,988 (GRCm39) I534F probably damaging Het
Epha4 A C 1: 77,359,628 (GRCm39) Y742D probably damaging Het
Ergic2 A G 6: 148,106,272 (GRCm39) probably null Het
Ero1a A T 14: 45,536,545 (GRCm39) probably null Het
Fam229a A G 4: 129,385,279 (GRCm39) D70G probably damaging Het
Fbn2 C T 18: 58,226,431 (GRCm39) R781Q probably damaging Het
Fbxo16 A T 14: 65,508,163 (GRCm39) probably benign Het
Fbxo39 T A 11: 72,208,111 (GRCm39) S154R probably benign Het
Fer T A 17: 64,298,575 (GRCm39) probably null Het
Filip1l A T 16: 57,391,410 (GRCm39) D428V probably damaging Het
Filip1l A G 16: 57,391,025 (GRCm39) I538V possibly damaging Het
Fsip2 T C 2: 82,809,954 (GRCm39) I2091T possibly damaging Het
Glyat A C 19: 12,628,762 (GRCm39) T186P possibly damaging Het
Gm10604 A G 4: 11,980,083 (GRCm39) S74P unknown Het
Gm4787 T G 12: 81,425,911 (GRCm39) K82N possibly damaging Het
Hectd4 T C 5: 121,358,683 (GRCm39) I50T unknown Het
Hectd4 T C 5: 121,402,030 (GRCm39) S373P possibly damaging Het
Hmcn1 A T 1: 150,562,618 (GRCm39) C2313* probably null Het
Hrob T C 11: 102,146,122 (GRCm39) Y133H possibly damaging Het
Igfn1 A T 1: 135,897,054 (GRCm39) S1171T probably benign Het
Ints8 T C 4: 11,241,642 (GRCm39) D267G probably benign Het
Itln1 A G 1: 171,356,727 (GRCm39) C251R probably damaging Het
Jcad C T 18: 4,674,026 (GRCm39) T596M probably damaging Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kif13a G A 13: 46,967,676 (GRCm39) T346M probably damaging Het
Klhl24 G A 16: 19,938,917 (GRCm39) A491T probably benign Het
Kntc1 C T 5: 123,916,410 (GRCm39) Q748* probably null Het
Krt25 T A 11: 99,208,122 (GRCm39) K369* probably null Het
Krt75 C T 15: 101,476,466 (GRCm39) R433Q probably benign Het
Krt76 A G 15: 101,793,293 (GRCm39) F582L unknown Het
Lysmd1 G A 3: 95,045,708 (GRCm39) V182I probably benign Het
Mab21l2 T A 3: 86,454,862 (GRCm39) E46V probably damaging Het
Magi2 A T 5: 20,563,934 (GRCm39) K355N probably damaging Het
Marchf10 T C 11: 105,276,398 (GRCm39) D630G probably damaging Het
Mast4 A T 13: 102,875,147 (GRCm39) I1215N probably damaging Het
Nckap1 G A 2: 80,360,562 (GRCm39) T523I probably benign Het
Nexmif T A X: 103,127,999 (GRCm39) D1306V probably damaging Het
Nfkb1 A C 3: 135,295,090 (GRCm39) I918R possibly damaging Het
Nt5el A G 13: 105,246,250 (GRCm39) I270M probably benign Het
Nup50 A T 15: 84,817,859 (GRCm39) T93S probably benign Het
Nwd2 T C 5: 63,961,717 (GRCm39) Y434H probably benign Het
Or13a28 T C 7: 140,218,397 (GRCm39) V261A probably benign Het
Osbpl1a C A 18: 13,038,088 (GRCm39) V288L probably benign Het
Pan3 A G 5: 147,463,846 (GRCm39) E562G possibly damaging Het
Pappa T A 4: 65,099,126 (GRCm39) Y548* probably null Het
Phf3 A T 1: 30,849,870 (GRCm39) L1181Q probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pkhd1l1 T C 15: 44,348,824 (GRCm39) I240T probably damaging Het
Pole G A 5: 110,438,368 (GRCm39) probably null Het
Polq T A 16: 36,832,304 (GRCm39) S15T unknown Het
Prrt2 T C 7: 126,619,396 (GRCm39) E23G possibly damaging Het
Prss37 A T 6: 40,494,760 (GRCm39) probably null Het
Prune2 T C 19: 16,977,400 (GRCm39) L45P probably damaging Het
Psd A T 19: 46,313,352 (GRCm39) M6K possibly damaging Het
Psmd1 A G 1: 86,017,719 (GRCm39) E510G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Pxdn T A 12: 30,053,405 (GRCm39) I1194N probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rgmb C A 17: 16,027,909 (GRCm39) R270L probably benign Het
Rps2 G A 17: 24,939,353 (GRCm39) probably benign Het
Rsbn1l G T 5: 21,107,364 (GRCm39) A550E probably damaging Het
S1pr4 C T 10: 81,335,138 (GRCm39) R112H probably benign Het
Scfd2 T C 5: 74,691,838 (GRCm39) N148S probably damaging Het
Scin C T 12: 40,131,705 (GRCm39) M276I probably benign Het
Sec24d T C 3: 123,147,255 (GRCm39) I708T possibly damaging Het
Skint11 T A 4: 114,086,009 (GRCm39) F41I possibly damaging Het
Slc15a4 A T 5: 127,694,303 (GRCm39) F44Y possibly damaging Het
Slc6a18 A G 13: 73,823,925 (GRCm39) Y72H probably benign Het
Slc7a11 A T 3: 50,332,195 (GRCm39) probably null Het
Slc7a14 G T 3: 31,291,650 (GRCm39) N209K possibly damaging Het
Sstr2 T C 11: 113,515,257 (GRCm39) C59R probably damaging Het
Stab1 A G 14: 30,884,997 (GRCm39) probably null Het
Stag1 G T 9: 100,748,263 (GRCm39) S475I probably damaging Het
Stxbp5l A G 16: 36,936,029 (GRCm39) Y1183H probably damaging Het
Svep1 A T 4: 58,135,628 (GRCm39) probably null Het
Tm9sf2 A G 14: 122,396,096 (GRCm39) T653A probably benign Het
Tmeff1 T C 4: 48,662,059 (GRCm39) S366P possibly damaging Het
Tnnt2 G T 1: 135,779,803 (GRCm39) W300L probably damaging Het
Traj32 A G 14: 54,423,560 (GRCm39) probably benign Het
Trp53bp2 A T 1: 182,269,204 (GRCm39) M223L probably benign Het
Tsga10 G A 1: 37,854,758 (GRCm39) T246M probably damaging Het
Txn2 A T 15: 77,810,870 (GRCm39) probably benign Het
Ubr3 T A 2: 69,768,542 (GRCm39) F450I probably damaging Het
Usp47 T C 7: 111,703,677 (GRCm39) probably null Het
Vars2 C T 17: 35,975,685 (GRCm39) R244Q probably damaging Het
Xrra1 T A 7: 99,546,803 (GRCm39) F251L probably damaging Het
Zfp804a G A 2: 82,087,863 (GRCm39) R564Q probably benign Het
Zfp983 T C 17: 21,877,883 (GRCm39) C29R 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
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
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
Predicted Primers PCR Primer
(F):5'- GGGAATCTGAGAAACAATTCTTTTGGC -3'
(R):5'- CTCTGTGCCACTAAAAGCTTTC -3'

Sequencing Primer
(F):5'- CAATTCTTTTGGCATACATATAAGGC -3'
(R):5'- CGGGTGAAGCTGATTTCCCAG -3'
Posted On 2014-12-04