Incidental Mutation 'R1914:Rpgrip1l'
ID 214686
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1914 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91959552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1116 (D1116G)
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113]
AlphaFold Q8CG73
Predicted Effect probably benign
Transcript: ENSMUST00000047783
AA Change: D1116G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: D1116G

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 noncoding transcript
Transcript: ENSMUST00000210538
Meta Mutation Damage Score 0.1274 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr5a G T 12: 51,952,250 (GRCm39) A1130E probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F 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
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
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'- TACCTTAGCTTCCTTCACAGACAG -3'
(R):5'- TGGAATGTATGGGAGCATACAC -3'

Sequencing Primer
(F):5'- TAGCTTCCTTCACAGACAGGAAAAAC -3'
(R):5'- TATGGGAGCATACACTGTGC -3'
Posted On 2014-07-14