Incidental Mutation 'R2093:Rpgrip1l'
ID 231916
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2093 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91996760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 105 (S105G)
Ref Sequence ENSEMBL: ENSMUSP00000147300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
AlphaFold Q8CG73
Predicted Effect possibly damaging
Transcript: ENSMUST00000047783
AA Change: S707G

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: S707G

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 noncoding transcript
Transcript: ENSMUST00000136198
Predicted Effect probably benign
Transcript: ENSMUST00000139113
SMART Domains Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209616
AA Change: S105G

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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
AA986860 A G 1: 130,671,041 (GRCm39) D421G probably benign Het
Adamts1 T G 16: 85,599,333 (GRCm39) Q89P probably benign Het
Arhgef10l T G 4: 140,297,601 (GRCm39) N277T possibly damaging Het
Atp2c1 G A 9: 105,295,320 (GRCm39) R669* probably null Het
Brip1 T C 11: 86,029,971 (GRCm39) T558A possibly damaging Het
Cbr2 G A 11: 120,621,255 (GRCm39) T148I probably benign Het
Ccdc110 C A 8: 46,395,114 (GRCm39) T335K probably damaging Het
Cd44 T G 2: 102,644,629 (GRCm39) D731A probably damaging Het
Cnot1 T C 8: 96,501,986 (GRCm39) D44G probably damaging Het
Cnrip1 T C 11: 17,002,237 (GRCm39) V23A probably damaging Het
Cntnap5c A T 17: 58,505,995 (GRCm39) H673L probably benign Het
Col3a1 C T 1: 45,372,150 (GRCm39) A493V probably damaging Het
Crem A T 18: 3,299,256 (GRCm39) V19E probably damaging Het
Cyp2g1 A G 7: 26,518,858 (GRCm39) D418G probably benign Het
Dmrta1 A T 4: 89,579,742 (GRCm39) H234L probably benign Het
Drc3 C T 11: 60,261,310 (GRCm39) R154W probably damaging Het
Drgx C T 14: 32,369,112 (GRCm39) probably benign Het
Eef1d A G 15: 75,774,550 (GRCm39) S370P probably benign Het
Fdx2 T C 9: 20,984,720 (GRCm39) H28R probably benign Het
Fmo5 A G 3: 97,553,194 (GRCm39) I381V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fras1 T C 5: 96,929,062 (GRCm39) L3822P probably damaging Het
Gm3604 G T 13: 62,517,420 (GRCm39) H313N possibly damaging Het
Heatr4 T C 12: 84,021,855 (GRCm39) E460G possibly damaging Het
Ino80 T A 2: 119,257,151 (GRCm39) H834L possibly damaging Het
Insr A T 8: 3,254,762 (GRCm39) C331S probably damaging Het
Itih4 C T 14: 30,613,694 (GRCm39) L304F probably damaging Het
Klhdc3 C T 17: 46,988,879 (GRCm39) V104I probably benign Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Map1b T C 13: 99,566,178 (GRCm39) E2181G unknown Het
Map2 T C 1: 66,438,599 (GRCm39) V41A probably damaging Het
Mical3 A T 6: 121,017,347 (GRCm39) H156Q probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myo5b T A 18: 74,892,263 (GRCm39) L1669Q probably damaging Het
Nme8 G A 13: 19,835,042 (GRCm39) S548F probably damaging Het
Npas1 A T 7: 16,193,202 (GRCm39) N408K probably benign Het
Or1j11 A T 2: 36,311,941 (GRCm39) Y177F probably benign Het
Or8k30 A C 2: 86,339,587 (GRCm39) Q261H probably damaging Het
Pcnx4 T C 12: 72,626,216 (GRCm39) Y1141H probably damaging Het
Pmaip1 C A 18: 66,594,052 (GRCm39) P64Q probably damaging Het
Ranbp3 T A 17: 57,017,145 (GRCm39) M387K probably damaging Het
Rbm4 A G 19: 4,837,792 (GRCm39) Y231H probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rtn3 A T 19: 7,434,215 (GRCm39) D573E probably damaging Het
Rxrg T C 1: 167,454,893 (GRCm39) C159R probably damaging Het
Sdk2 T C 11: 113,833,948 (GRCm39) Y78C probably damaging Het
Smu1 A G 4: 40,738,438 (GRCm39) V432A probably benign Het
Spag1 T C 15: 36,224,276 (GRCm39) L609P probably damaging Het
Spata21 T G 4: 140,824,277 (GRCm39) V180G probably benign Het
Spata31e2 G T 1: 26,721,222 (GRCm39) Y1319* probably null Het
Sptlc3 A T 2: 139,467,794 (GRCm39) I451F possibly damaging Het
Srl A G 16: 4,340,896 (GRCm39) C8R unknown Het
Tmprss13 A G 9: 45,256,340 (GRCm39) R485G probably damaging Het
Trpv4 C T 5: 114,773,565 (GRCm39) A266T probably damaging Het
Vmn1r198 A G 13: 22,538,855 (GRCm39) T25A probably benign Het
Vmn2r77 T C 7: 86,450,702 (GRCm39) V196A probably benign Het
Vmn2r82 C T 10: 79,231,813 (GRCm39) T604I probably benign Het
Zfp268 C A 4: 145,349,139 (GRCm39) T192N probably benign Het
Zfp354a C T 11: 50,960,551 (GRCm39) T254I 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
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'- GCTATTTGCACCATCATTCATGACAC -3'
(R):5'- GCAGACTACTCCCATAGTGC -3'

Sequencing Primer
(F):5'- CACTAAAGAGAGTTCAGTCACTTGTG -3'
(R):5'- CGAGGCCTTTACCCGGAGTATAAC -3'
Posted On 2014-09-18