Incidental Mutation 'R7796:Rpgrip1l'
ID 600231
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 045852-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7796 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91996865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 672 (Y672H)
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: Y672H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: Y672H

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 damaging
Transcript: ENSMUST00000209616
AA Change: Y70H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.2980 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (54/54)
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
A630089N07Rik T A 16: 97,867,024 (GRCm39) I313F probably benign Het
Acot2 T A 12: 84,035,257 (GRCm39) probably null Het
Agbl4 G T 4: 110,518,165 (GRCm39) G152V unknown Het
Arap2 A G 5: 62,888,105 (GRCm39) S414P probably damaging Het
Cep85l A C 10: 53,157,497 (GRCm39) N735K probably damaging Het
Col12a1 T C 9: 79,585,833 (GRCm39) S1209G possibly damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dpf1 C G 7: 29,011,106 (GRCm39) N168K possibly damaging Het
Dync1li2 T A 8: 105,157,181 (GRCm39) Y184F probably damaging Het
Epb41l2 A G 10: 25,319,727 (GRCm39) T187A probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fndc3b G A 3: 27,515,892 (GRCm39) T638I probably benign Het
Gm11564 A G 11: 99,706,424 (GRCm39) V2A unknown Het
Gm3159 A G 14: 4,400,560 (GRCm38) *206W probably null Het
Gm32742 A G 9: 51,071,123 (GRCm39) probably null Het
Gm4847 G A 1: 166,469,819 (GRCm39) H85Y probably damaging Het
Gprc5c A T 11: 114,755,358 (GRCm39) D345V probably damaging Het
Kalrn A T 16: 34,007,854 (GRCm39) Y1363* probably null Het
Kdm5a T C 6: 120,367,724 (GRCm39) V473A probably damaging Het
Kidins220 T C 12: 25,032,350 (GRCm39) C28R probably damaging Het
Klhl5 T C 5: 65,321,965 (GRCm39) Y664H probably damaging Het
Krt17 A G 11: 100,151,698 (GRCm39) S32P probably benign Het
Krt87 A G 15: 101,383,865 (GRCm39) V424A possibly damaging Het
Lipo3 T C 19: 33,759,634 (GRCm39) T201A possibly damaging Het
Map2 A G 1: 66,455,654 (GRCm39) probably null Het
Megf10 C A 18: 57,410,731 (GRCm39) T680N possibly damaging Het
Metap1d T A 2: 71,342,506 (GRCm39) D178E probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mki67 A G 7: 135,299,923 (GRCm39) S1704P probably damaging Het
Nr2f2 A G 7: 70,007,901 (GRCm39) S194P probably benign Het
Nrsn2 T A 2: 152,218,471 (GRCm39) probably benign Het
Ociad1 C T 5: 73,452,290 (GRCm39) P27L probably damaging Het
Or13p5 T A 4: 118,591,882 (GRCm39) I52N probably damaging Het
Or4a39 T A 2: 89,237,157 (GRCm39) T89S possibly damaging Het
Patj A T 4: 98,435,220 (GRCm39) M1L probably benign Het
Pcdhb2 A G 18: 37,428,446 (GRCm39) I140V possibly damaging Het
Pla2g6 T C 15: 79,202,025 (GRCm39) N49D probably benign Het
Pramel22 T A 4: 143,380,727 (GRCm39) D432V possibly damaging Het
Pxdc1 T A 13: 34,836,354 (GRCm39) N22I probably damaging Het
Rps23rg1 T C 8: 3,634,160 (GRCm39) V111A probably benign Het
Safb2 T C 17: 56,873,327 (GRCm39) R779G possibly damaging Het
Skic2 C T 17: 35,063,394 (GRCm39) G628S probably damaging Het
Smg5 A T 3: 88,256,739 (GRCm39) Q299L probably damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Sulf1 T C 1: 12,929,044 (GRCm39) L864S probably benign Het
Tas1r1 A G 4: 152,119,212 (GRCm39) V119A probably benign Het
Tasp1 T C 2: 139,850,705 (GRCm39) N106S probably damaging Het
Tcf4 T A 18: 69,697,140 (GRCm39) N156K probably benign Het
Trav14n-3 T A 14: 53,607,827 (GRCm39) Y52* probably null Het
Ttn T C 2: 76,665,222 (GRCm39) E11598G unknown Het
Unc80 A G 1: 66,542,873 (GRCm39) I376V probably benign Het
Ybx3 T C 6: 131,345,479 (GRCm39) E298G probably damaging Het
Yipf7 T C 5: 69,684,596 (GRCm39) Y73C possibly damaging Het
Zdbf2 G A 1: 63,342,583 (GRCm39) A321T possibly damaging Het
Zfp369 A G 13: 65,444,029 (GRCm39) R391G probably benign Het
Zfp54 A G 17: 21,654,982 (GRCm39) E492G probably damaging Het
Zfp971 A G 2: 177,673,403 (GRCm39) T51A 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
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
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'- ACCCAAAATGCCCTTAATGTGTG -3'
(R):5'- AAAGTCACCTTTTCTTCTGAAGTCC -3'

Sequencing Primer
(F):5'- GTATGCTAGTGAACGCATAATCC -3'
(R):5'- CTTCGGGCATCTGGTGATAAAGAAC -3'
Posted On 2019-11-26