Incidental Mutation 'R5141:Rpgrip1l'
ID 396470
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 042727-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5141 (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 91987546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 837 (Q837R)
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: Q837R

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: Q837R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210054
Meta Mutation Damage Score 0.2485 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (76/79)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A G 14: 68,810,577 (GRCm39) V193A probably benign Het
Adamts18 T A 8: 114,501,902 (GRCm39) T320S probably damaging Het
Adamtsl1 G T 4: 86,075,087 (GRCm39) M151I possibly damaging Het
Adgrv1 A T 13: 81,419,037 (GRCm39) V5986E probably damaging Het
Aifm3 A G 16: 17,317,586 (GRCm39) E69G probably damaging Het
Akap13 C A 7: 75,259,362 (GRCm39) T662K probably benign Het
Alms1 A G 6: 85,598,414 (GRCm39) D1080G probably benign Het
Als2 T C 1: 59,209,611 (GRCm39) E1457G possibly damaging Het
Apobec4 A G 1: 152,631,964 (GRCm39) probably benign Het
Apoo-ps C T 13: 107,550,895 (GRCm39) noncoding transcript Het
Aspscr1 G A 11: 120,580,003 (GRCm39) V181I probably benign Het
Atrn T C 2: 130,841,050 (GRCm39) probably benign Het
C3 T A 17: 57,526,570 (GRCm39) I804F probably damaging Het
Cbfa2t3 C T 8: 123,361,760 (GRCm39) G421R probably benign Het
Chmp4c A G 3: 10,432,213 (GRCm39) E41G probably damaging Het
Clk4 T A 11: 51,166,598 (GRCm39) F96L possibly damaging Het
Ctsg G A 14: 56,339,184 (GRCm39) R25* probably null Het
Cul1 A G 6: 47,497,773 (GRCm39) D618G probably benign Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dip2a G A 10: 76,106,287 (GRCm39) T1326I probably damaging Het
Etnk2 A G 1: 133,296,600 (GRCm39) I210V probably benign Het
Gm5773 T A 3: 93,681,034 (GRCm39) D235E probably benign Het
Gm7353 T C 7: 3,161,001 (GRCm39) noncoding transcript Het
Gpi1 G A 7: 33,926,521 (GRCm39) probably benign Het
Ing4 T C 6: 125,016,837 (GRCm39) M5T probably benign Het
Inpp4a A G 1: 37,419,168 (GRCm39) I583V probably benign Het
Isyna1 T C 8: 71,047,543 (GRCm39) V64A probably damaging Het
Katnal2 T A 18: 77,085,337 (GRCm39) D310V probably damaging Het
Kbtbd8 A G 6: 95,098,820 (GRCm39) T126A probably damaging Het
Kif13a T C 13: 46,906,197 (GRCm39) D582G probably benign Het
Lmf2 G A 15: 89,235,810 (GRCm39) probably null Het
Lrp2 T C 2: 69,382,693 (GRCm39) probably null Het
Lrp4 T C 2: 91,309,023 (GRCm39) probably benign Het
Lyzl1 A C 18: 4,169,209 (GRCm39) D71A possibly damaging Het
Mak C T 13: 41,186,039 (GRCm39) C543Y possibly damaging Het
Mapk8ip1 T C 2: 92,217,110 (GRCm39) D404G probably damaging Het
Mdga1 C T 17: 30,071,467 (GRCm39) E385K probably benign Het
Mst1r T A 9: 107,789,440 (GRCm39) I573N probably damaging Het
Muc5ac T A 7: 141,368,479 (GRCm39) N2365K possibly damaging Het
Ncan T C 8: 70,565,487 (GRCm39) E179G probably damaging Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or10d5 T G 9: 39,861,170 (GRCm39) K299T probably benign Het
Or4c122 A C 2: 89,079,473 (GRCm39) Y176* probably null Het
Or8g20 A G 9: 39,395,827 (GRCm39) F238L probably damaging Het
Pcolce G T 5: 137,604,012 (GRCm39) Q352K probably benign Het
Peg3 G T 7: 6,712,381 (GRCm39) T947N probably benign Het
Pld3 C T 7: 27,233,220 (GRCm39) D344N probably damaging Het
Plec A C 15: 76,074,733 (GRCm39) D411E probably damaging Het
Pmp2 C T 3: 10,247,474 (GRCm39) D72N probably benign Het
Ptpn9 T C 9: 56,943,960 (GRCm39) V278A possibly damaging Het
Rbm33 A G 5: 28,557,687 (GRCm39) H300R probably damaging Het
Rwdd4a T C 8: 48,003,709 (GRCm39) probably benign Het
Sema6a T C 18: 47,381,455 (GRCm39) T1048A probably damaging Het
Senp1 G A 15: 97,974,488 (GRCm39) A108V probably benign Het
Serpine2 G T 1: 79,780,580 (GRCm39) Q290K possibly damaging Het
Sesn1 A G 10: 41,687,097 (GRCm39) N27S probably benign Het
Shroom1 T A 11: 53,354,809 (GRCm39) L243* probably null Het
Slc17a5 A G 9: 78,448,270 (GRCm39) Y395H probably damaging Het
Slc5a8 T C 10: 88,755,422 (GRCm39) probably null Het
Sptbn5 G A 2: 119,892,212 (GRCm39) S1083F probably benign Het
Stx4a T A 7: 127,445,787 (GRCm39) V231E probably damaging Het
Swt1 A T 1: 151,287,145 (GRCm39) S116T probably benign Het
Syt9 C T 7: 107,103,426 (GRCm39) T408I probably damaging Het
Tgm7 T C 2: 120,931,480 (GRCm39) T228A probably benign Het
Tmem115 A G 9: 107,415,141 (GRCm39) D310G probably benign Het
Trcg1 G A 9: 57,148,587 (GRCm39) G53D probably damaging Het
Tsfm T C 10: 126,865,482 (GRCm39) K100E probably damaging Het
Usp1 A G 4: 98,822,446 (GRCm39) T587A probably damaging Het
Vcpip1 G T 1: 9,818,302 (GRCm39) A27E unknown Het
Vmn2r49 T C 7: 9,720,300 (GRCm39) N397S probably benign Het
Vmn2r8 A G 5: 108,956,572 (GRCm39) S17P probably damaging Het
Vwa3b A G 1: 37,226,102 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,998,114 (GRCm39) S1094T probably benign Het
Zbtb22 C G 17: 34,137,610 (GRCm39) S585C possibly damaging Het
Zhx2 A G 15: 57,685,182 (GRCm39) T184A 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
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'- TCTTACCTGAGATACACTTGTCATG -3'
(R):5'- TGTATGTTCTGCCAGTCGAGTC -3'

Sequencing Primer
(F):5'- CACTTGTCATGTGCCAGGGAAATC -3'
(R):5'- TTCTGCCAGTCGAGTCAGCAAG -3'
Posted On 2016-06-21