Incidental Mutation 'R0599:Rpgrip1l'
ID 55228
Institutional Source Beutler Lab
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene Name Rpgrip1-like
Synonyms Nphp8, 1700047E16Rik, Ftm, fantom
MMRRC Submission 038788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0599 (G1)
Quality Score 209
Status Validated
Chromosome 8
Chromosomal Location 91943658-92039890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92031628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 83 (I83T)
Ref Sequence ENSEMBL: ENSMUSP00000118230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000132757] [ENSMUST00000139113]
AlphaFold Q8CG73
Predicted Effect possibly damaging
Transcript: ENSMUST00000047783
AA Change: I83T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: I83T

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: ENSMUST00000132757
SMART Domains Protein: ENSMUSP00000120818
Gene: ENSMUSG00000033282

DomainStartEndE-ValueType
coiled coil region 56 78 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139113
AA Change: I83T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118230
Gene: ENSMUSG00000033282
AA Change: I83T

DomainStartEndE-ValueType
coiled coil region 56 143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209619
Meta Mutation Damage Score 0.1197 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,529,208 (GRCm39) L978P probably damaging Het
Abcb1a C T 5: 8,748,539 (GRCm39) T290M probably benign Het
Abcd3 A T 3: 121,558,742 (GRCm39) F585I probably damaging Het
Abtb3 G A 10: 85,494,200 (GRCm39) G1106D probably damaging Het
Acan A G 7: 78,761,038 (GRCm39) probably benign Het
Anxa6 T C 11: 54,870,292 (GRCm39) D667G possibly damaging Het
Ap3m2 G T 8: 23,283,128 (GRCm39) A208D possibly damaging Het
Arhgap17 A T 7: 122,903,013 (GRCm39) probably benign Het
Bptf A G 11: 106,959,208 (GRCm39) V1838A probably damaging Het
Brip1 T A 11: 86,043,563 (GRCm39) M334L probably benign Het
Btbd10 C T 7: 112,934,516 (GRCm39) probably benign Het
Cdh20 C A 1: 109,980,696 (GRCm39) T208K probably damaging Het
Cnga4 A G 7: 105,055,025 (GRCm39) Y100C probably damaging Het
Dnah10 G A 5: 124,878,017 (GRCm39) V2644M probably damaging Het
Dnah9 T C 11: 65,856,515 (GRCm39) D2882G probably damaging Het
Eapp T A 12: 54,732,747 (GRCm39) K117M probably damaging Het
Eml3 T C 19: 8,916,427 (GRCm39) V673A probably benign Het
Ephb4 G A 5: 137,368,117 (GRCm39) C754Y probably damaging Het
Eps8l1 A G 7: 4,480,956 (GRCm39) D33G possibly damaging Het
Farsa A G 8: 85,594,212 (GRCm39) K321E probably damaging Het
Fry G A 5: 150,360,624 (GRCm39) R2090Q probably damaging Het
Gm10283 A G 8: 60,954,258 (GRCm39) probably benign Het
Grm4 A G 17: 27,650,464 (GRCm39) I844T probably benign Het
Gtf2h3 A G 5: 124,726,691 (GRCm39) D124G probably benign Het
Gulo A T 14: 66,227,890 (GRCm39) D347E probably damaging Het
Hmcn1 A G 1: 150,485,552 (GRCm39) F4350S possibly damaging Het
Hspg2 A G 4: 137,239,712 (GRCm39) D473G probably damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Insrr A G 3: 87,720,440 (GRCm39) E1026G probably damaging Het
Itga2 A T 13: 114,993,186 (GRCm39) probably benign Het
Kdm1b A T 13: 47,212,286 (GRCm39) D190V possibly damaging Het
Lima1 A T 15: 99,700,040 (GRCm39) N146K probably damaging Het
Mnt G T 11: 74,733,122 (GRCm39) V85L probably benign Het
Mon2 T A 10: 122,861,970 (GRCm39) probably benign Het
Mtf1 T C 4: 124,713,994 (GRCm39) probably benign Het
Mylk4 T C 13: 32,896,737 (GRCm39) probably null Het
Myo18b A C 5: 113,013,616 (GRCm39) L780R probably damaging Het
Myo1e A G 9: 70,283,942 (GRCm39) probably benign Het
Obscn A G 11: 58,964,522 (GRCm39) S705P probably damaging Het
Ocrl A T X: 47,024,963 (GRCm39) probably benign Het
Or1e34 A T 11: 73,778,730 (GRCm39) M156K probably benign Het
Or4c35 T C 2: 89,808,545 (GRCm39) F141S probably benign Het
Or51k1 A T 7: 103,661,395 (GRCm39) C171* probably null Het
Or52ab4 A G 7: 102,987,393 (GRCm39) N44S probably damaging Het
Otof T A 5: 30,528,049 (GRCm39) K1931N probably damaging Het
Plcxd3 A G 15: 4,546,349 (GRCm39) S118G probably damaging Het
Plcz1 T A 6: 139,974,268 (GRCm39) Q58L probably benign Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Rassf4 T C 6: 116,622,897 (GRCm39) E38G probably damaging Het
Ros1 A T 10: 51,999,396 (GRCm39) Y1164N probably damaging Het
Scn9a T G 2: 66,357,143 (GRCm39) K1053Q probably damaging Het
Sgsm1 G T 5: 113,392,894 (GRCm39) Q1087K probably damaging Het
Slc16a10 T C 10: 40,017,914 (GRCm39) D40G probably benign Het
Slc27a6 A G 18: 58,689,885 (GRCm39) D117G probably damaging Het
Slc2a9 T A 5: 38,637,487 (GRCm39) probably benign Het
Slc4a1 A G 11: 102,248,741 (GRCm39) probably benign Het
Smarca1 T A X: 46,912,303 (GRCm39) Q982L probably benign Het
Sp100 T A 1: 85,608,831 (GRCm39) I320N possibly damaging Het
Stx8 A T 11: 68,000,188 (GRCm39) R209S probably null Het
Sulf2 T C 2: 165,925,799 (GRCm39) T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tenm2 T A 11: 35,915,607 (GRCm39) I1976F possibly damaging Het
Tenm3 G A 8: 48,730,745 (GRCm39) S1341L probably damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tmem200c A G 17: 69,147,506 (GRCm39) K30E probably damaging Het
Tmem225 A G 9: 40,061,043 (GRCm39) I117V possibly damaging Het
Tmt1a3 A T 15: 100,233,264 (GRCm39) N152Y possibly damaging Het
Top2a A G 11: 98,892,243 (GRCm39) I1073T probably damaging Het
Trps1 A C 15: 50,695,256 (GRCm39) Y296* probably null Het
Tubg1 T C 11: 101,016,162 (GRCm39) M377T probably benign Het
Tut7 A G 13: 59,957,301 (GRCm39) V7A probably damaging Het
Vmn1r35 G A 6: 66,656,497 (GRCm39) H58Y probably benign Het
Vmn1r56 G A 7: 5,199,429 (GRCm39) H63Y probably benign Het
Vmn1r75 T C 7: 11,615,189 (GRCm39) probably null Het
Vnn3 T C 10: 23,741,603 (GRCm39) S303P possibly damaging Het
Wdr49 C T 3: 75,338,383 (GRCm39) probably null Het
Wdr49 T C 3: 75,357,197 (GRCm39) probably null Het
Zzef1 T C 11: 72,804,004 (GRCm39) L2582P 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
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
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'- AACTGTTCCAACCCCTTTGGAAGAC -3'
(R):5'- GGTTGTAGACATGGCCTACCACATC -3'

Sequencing Primer
(F):5'- TGCACTCGACTGTACGAC -3'
(R):5'- GTGCTATAAAGCAGATTGTTGCCC -3'
Posted On 2013-07-11