Incidental Mutation 'R8769:Rpgrip1l'
ID 686572
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 068624-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8769 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 91979212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000209616
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (57/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,589 (GRCm39) N289K unknown Het
Adgrl2 T C 3: 148,522,917 (GRCm39) I436V Het
Agbl3 C T 6: 34,834,549 (GRCm39) S911L probably damaging Het
Ampd2 C T 3: 107,982,613 (GRCm39) M714I probably damaging Het
Asb6 T C 2: 30,718,143 (GRCm39) D19G possibly damaging Het
Atosa C A 9: 74,933,107 (GRCm39) L1025I probably damaging Het
Bbx T C 16: 50,061,227 (GRCm39) Q298R probably damaging Het
Bcl9l T A 9: 44,420,263 (GRCm39) M1223K probably benign Het
Ccr3 T A 9: 123,829,096 (GRCm39) F144I possibly damaging Het
Cfap74 T A 4: 155,503,105 (GRCm39) F32L Het
Clhc1 G A 11: 29,511,401 (GRCm39) E293K probably damaging Het
Col22a1 A T 15: 71,878,571 (GRCm39) D195E probably benign Het
Cttnbp2 T A 6: 18,376,003 (GRCm39) D1512V probably damaging Het
Cul9 T C 17: 46,832,828 (GRCm39) T1372A possibly damaging Het
Dyrk4 G T 6: 126,857,208 (GRCm39) D490E possibly damaging Het
E4f1 C T 17: 24,663,574 (GRCm39) V626M probably damaging Het
Edc3 C T 9: 57,634,678 (GRCm39) R232C probably damaging Het
Eppk1 A G 15: 75,994,895 (GRCm39) I662T probably benign Het
G3bp2 C T 5: 92,231,356 (GRCm39) probably benign Het
Grik3 T C 4: 125,550,166 (GRCm39) L397P probably damaging Het
Hectd4 A G 5: 121,419,936 (GRCm39) N627S possibly damaging Het
Hecw2 C T 1: 53,952,507 (GRCm39) V909I probably benign Het
Hsd17b12 A T 2: 93,945,397 (GRCm39) M75K probably damaging Het
Htt C T 5: 34,977,633 (GRCm39) T809I probably benign Het
Itih1 A G 14: 30,655,381 (GRCm39) S609P probably damaging Het
Klk1b9 T A 7: 43,629,666 (GRCm39) C234S probably damaging Het
Lrrc37a A G 11: 103,389,536 (GRCm39) L1963P probably benign Het
Lypd3 C A 7: 24,337,932 (GRCm39) H99Q probably damaging Het
Mdn1 C A 4: 32,751,390 (GRCm39) H4593Q probably damaging Het
Mroh1 A G 15: 76,297,126 (GRCm39) S325G probably benign Het
Muc5ac G A 7: 141,372,609 (GRCm39) G3452R probably damaging Het
Myrfl A T 10: 116,612,696 (GRCm39) D884E probably damaging Het
Nbeal1 T A 1: 60,274,370 (GRCm39) H260Q probably damaging Het
Ngef A G 1: 87,408,883 (GRCm39) L519P probably damaging Het
Or5ac20 A G 16: 59,104,194 (GRCm39) L222P probably damaging Het
Or5b102 T A 19: 13,041,307 (GRCm39) C177* probably null Het
Or5w1b A T 2: 87,475,960 (GRCm39) F169Y probably damaging Het
Pcca A G 14: 122,854,260 (GRCm39) K184R probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp6r1 A T 7: 4,644,289 (GRCm39) V379E probably benign Het
Prkca A T 11: 107,842,286 (GRCm39) probably benign Het
Prune2 A G 19: 17,100,442 (GRCm39) E1982G probably damaging Het
Rad21l T C 2: 151,509,838 (GRCm39) T88A probably benign Het
Sec62 T C 3: 30,864,177 (GRCm39) probably null Het
Slc22a19 C T 19: 7,670,086 (GRCm39) R256Q possibly damaging Het
Slc43a2 G T 11: 75,434,192 (GRCm39) probably null Het
Smarcd3 T C 5: 24,803,792 (GRCm39) M30V probably benign Het
Tes3-ps T A 13: 49,647,356 (GRCm39) D77E probably benign Het
Thbs3 G A 3: 89,131,937 (GRCm39) probably benign Het
Trpm2 A T 10: 77,768,128 (GRCm39) N790K probably benign Het
Ttc13 A T 8: 125,405,816 (GRCm39) N492K possibly damaging Het
Ttc39c T C 18: 12,828,545 (GRCm39) L235P probably damaging Het
Tyms T C 5: 30,278,360 (GRCm39) probably benign Het
Whamm A T 7: 81,234,933 (GRCm39) K333* probably null Het
Ydjc A G 16: 16,968,732 (GRCm39) I224V probably benign Het
Zc3hav1 C T 6: 38,313,416 (GRCm39) D210N possibly damaging Het
Zfp735 G A 11: 73,581,127 (GRCm39) E55K possibly 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
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
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'- TGTAGGGAAAATGCTATGATTTCC -3'
(R):5'- CCTTTGACATAAGCAGAGACAGTAAG -3'

Sequencing Primer
(F):5'- ACCTTGGAAGGATACGCA -3'
(R):5'- AGTAAGCAGAGCCCGTCTTTACTG -3'
Posted On 2021-11-08