Incidental Mutation 'R6956:Rpgrip1l'
ID 557064
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 045067-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6956 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 92012941 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 probably benign
Transcript: ENSMUST00000139113
SMART Domains Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,781,762 (GRCm39) V945M probably benign Het
Amotl2 A G 9: 102,601,967 (GRCm39) T371A probably damaging Het
Bmpr1a A G 14: 34,163,132 (GRCm39) I86T possibly damaging Het
C9 A T 15: 6,474,945 (GRCm39) M35L probably benign Het
Cc2d1a G T 8: 84,862,528 (GRCm39) P661T probably damaging Het
Ccdc202 T A 14: 96,119,869 (GRCm39) W209R probably damaging Het
Dcdc2a T A 13: 25,303,349 (GRCm39) S293R probably benign Het
Dchs2 T A 3: 83,261,233 (GRCm39) N2500K probably benign Het
Dicer1 A G 12: 104,697,282 (GRCm39) S92P probably damaging Het
Dnah7a T A 1: 53,616,446 (GRCm39) I1172F probably benign Het
Dnajc6 A G 4: 101,471,470 (GRCm39) S364G probably damaging Het
Dpp6 A T 5: 27,803,819 (GRCm39) N255I probably damaging Het
Eif2ak4 T C 2: 118,252,748 (GRCm39) I440T probably damaging Het
Fam184b T C 5: 45,688,099 (GRCm39) T937A probably damaging Het
Fam229b T A 10: 39,009,843 (GRCm39) probably null Het
Gbp11 A G 5: 105,476,241 (GRCm39) probably null Het
Gipc2 A G 3: 151,799,885 (GRCm39) F282L probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
H2-T3 T A 17: 36,500,263 (GRCm39) Y144F probably damaging Het
Kel T G 6: 41,664,907 (GRCm39) D7A probably damaging Het
Lrrc7 A G 3: 157,994,668 (GRCm39) V166A probably benign Het
Mapt T C 11: 104,209,081 (GRCm39) probably null Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Mboat1 T C 13: 30,422,059 (GRCm39) V396A possibly damaging Het
Mphosph9 T C 5: 124,435,621 (GRCm39) D604G probably damaging Het
Muc16 T C 9: 18,556,322 (GRCm39) T3324A unknown Het
Nalf1 T A 8: 9,820,744 (GRCm39) Q92L probably benign Het
Nat10 T C 2: 103,564,757 (GRCm39) I495V probably benign Het
Or6c208 A T 10: 129,224,166 (GRCm39) K221N probably benign Het
Pfkfb2 T C 1: 130,635,337 (GRCm39) N75D probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Scube1 T C 15: 83,606,077 (GRCm39) Y65C probably damaging Het
Slc12a4 A G 8: 106,680,484 (GRCm39) F211L probably damaging Het
Socs7 T C 11: 97,267,849 (GRCm39) S327P probably benign Het
Spef2 A T 15: 9,685,021 (GRCm39) D591E probably damaging Het
Sult2a6 T A 7: 13,988,748 (GRCm39) D4V possibly damaging Het
Tdpoz8 T C 3: 92,981,279 (GRCm39) V25A possibly damaging Het
Tdrd9 A G 12: 112,002,788 (GRCm39) probably benign Het
Tgm4 G T 9: 122,893,768 (GRCm39) M155I possibly damaging Het
Togaram2 T C 17: 72,036,183 (GRCm39) V891A probably benign Het
Usp1 A G 4: 98,819,243 (GRCm39) E235G probably damaging Het
Usp2 T A 9: 44,004,053 (GRCm39) V533E probably damaging Het
Vcan T A 13: 89,837,550 (GRCm39) I2665F probably damaging Het
Vmn2r31 G A 7: 7,397,505 (GRCm39) S251L probably benign Het
Vmn2r84 C A 10: 130,225,136 (GRCm39) C458F 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
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
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'- CAGTGACTAATGCCTTTAGAAAGC -3'
(R):5'- AATTGAATGCAGGCTCCGTG -3'

Sequencing Primer
(F):5'- TCATGTCATGATCTGCTGCTAG -3'
(R):5'- CTCCGTGTGTGCTGTAGTCAG -3'
Posted On 2019-06-07