Incidental Mutation 'R6984:Rpgrip1l'
ID 542843
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 045091-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6984 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 91987426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 877 (M877R)
Ref Sequence ENSEMBL: ENSMUSP00000042702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect probably benign
Transcript: ENSMUST00000047783
AA Change: M877R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: M877R

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: 99.1%
  • 20x: 96.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,937 (GRCm39) V676A probably benign Het
Abcb5 A G 12: 118,891,012 (GRCm39) M495T possibly damaging Het
Aktip A T 8: 91,853,346 (GRCm39) F124I probably damaging Het
Alpk2 C A 18: 65,438,749 (GRCm39) Q1348H possibly damaging Het
Apol11b T C 15: 77,519,546 (GRCm39) D178G probably benign Het
Asb15 A T 6: 24,566,336 (GRCm39) I430F probably benign Het
Chd2 A C 7: 73,134,159 (GRCm39) Y729* probably null Het
Cpb2 T C 14: 75,502,898 (GRCm39) V159A possibly damaging Het
Csf2rb A G 15: 78,229,719 (GRCm39) S429G probably damaging Het
Ctsw C T 19: 5,516,646 (GRCm39) R133H probably damaging Het
Dhx30 A G 9: 109,920,485 (GRCm39) probably null Het
Dnah8 G A 17: 30,958,712 (GRCm39) G2185R probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enthd1 A T 15: 80,444,309 (GRCm39) I82N probably damaging Het
Epx T A 11: 87,759,424 (GRCm39) D555V probably damaging Het
Fhdc1 T G 3: 84,351,823 (GRCm39) D1134A possibly damaging Het
Fip1l1 T A 5: 74,702,734 (GRCm39) V82D probably damaging Het
Fn1 A T 1: 71,665,238 (GRCm39) F960I probably damaging Het
Gsdmc2 A T 15: 63,696,898 (GRCm39) Y424* probably null Het
Hsd3b7 T A 7: 127,400,717 (GRCm39) I57N probably damaging Het
Ighv10-1 A T 12: 114,442,702 (GRCm39) D94E possibly damaging Het
Ighv3-3 A G 12: 114,160,350 (GRCm39) V20A possibly damaging Het
Kcnh3 G T 15: 99,126,433 (GRCm39) C220F probably benign Het
Kctd16 G A 18: 40,390,101 (GRCm39) probably benign Het
L3mbtl3 T C 10: 26,158,753 (GRCm39) K632E unknown Het
Lama1 G A 17: 68,086,107 (GRCm39) V1449M Het
Lgr6 A G 1: 134,915,740 (GRCm39) I336T possibly damaging Het
Lrp1b A C 2: 40,712,640 (GRCm39) D3117E probably damaging Het
Lrrc4b A T 7: 44,110,722 (GRCm39) E198V possibly damaging Het
Map2 A T 1: 66,454,395 (GRCm39) D1095V possibly damaging Het
Mapk8ip1 A T 2: 92,217,072 (GRCm39) S417T probably damaging Het
Med24 A G 11: 98,609,368 (GRCm39) V94A possibly damaging Het
Megf11 A G 9: 64,593,734 (GRCm39) I637V probably benign Het
Mpp7 C T 18: 7,441,623 (GRCm39) G182D probably damaging Het
Myh15 G A 16: 48,930,775 (GRCm39) G583D probably damaging Het
Naa15 A G 3: 51,380,021 (GRCm39) T750A probably benign Het
Or10d5b C T 9: 39,886,030 (GRCm39) V30I unknown Het
Or10v5 T A 19: 11,805,668 (GRCm39) T241S probably damaging Het
Or1e30 G A 11: 73,678,603 (GRCm39) V280M possibly damaging Het
Pgm1 A T 4: 99,786,851 (GRCm39) Q30L probably benign Het
Pi4kb C T 3: 94,904,245 (GRCm39) R238C probably damaging Het
Plec T C 15: 76,059,527 (GRCm39) E3497G probably damaging Het
Plpp4 C T 7: 128,992,616 (GRCm39) A218V possibly damaging Het
Plxnc1 G A 10: 94,667,392 (GRCm39) A1094V probably damaging Het
Pom121l2 A T 13: 22,166,191 (GRCm39) D154V probably benign Het
Prrt4 G T 6: 29,171,429 (GRCm39) P341Q probably benign Het
Psd3 A G 8: 68,270,697 (GRCm39) V21A possibly damaging Het
Rhot1 T A 11: 80,124,310 (GRCm39) C157* probably null Het
Rnase9 C T 14: 51,276,673 (GRCm39) V102M probably benign Het
Ryr3 T C 2: 112,705,436 (GRCm39) Y806C probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Sympk A G 7: 18,771,968 (GRCm39) D344G probably benign Het
Tcf12 G A 9: 71,914,041 (GRCm39) Q76* probably null Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Ttc19 A G 11: 62,204,863 (GRCm39) Y318C probably damaging Het
Vmn2r17 T A 5: 109,600,533 (GRCm39) D610E probably benign Het
Wdr24 A G 17: 26,047,209 (GRCm39) T701A possibly damaging Het
Zfp268 T C 4: 145,347,186 (GRCm39) L30P 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
R6956:Rpgrip1l UTSW 8 92,012,941 (GRCm39) splice site probably null
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'- AGAAATGCTGTGGTTTCAAGC -3'
(R):5'- GATTTTCCAGACCATGATACCGC -3'

Sequencing Primer
(F):5'- CTGTGGTTTCAAGCAAGGAAATAAC -3'
(R):5'- GCCATCGTTCCCAGTAGCAATG -3'
Posted On 2018-11-28