Incidental Mutation 'IGL02962:Rpgrip1l'
ID365383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpgrip1l
Ensembl Gene ENSMUSG00000033282
Gene NameRpgrip1-like
SynonymsNphp8, fantom, Ftm, 1700047E16Rik
Accession Numbers

NCBI RefSeq: NM_173431.2; MGI: 1920563

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02962
Quality Score
Status
Chromosome8
Chromosomal Location91217030-91313262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91270362 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 28 (V28D)
Ref Sequence ENSEMBL: ENSMUSP00000147300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113] [ENSMUST00000209616]
Predicted Effect probably benign
Transcript: ENSMUST00000047783
AA Change: V630D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: V630D

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: V28D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3716208
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,610,593 probably null Het
9530068E07Rik T C 11: 52,403,535 V209A possibly damaging Het
Abca3 T A 17: 24,400,409 V907E probably damaging Het
Acvrl1 T C 15: 101,135,501 Y90H probably benign Het
Aff3 T C 1: 38,535,656 D81G probably damaging Het
Amn G T 12: 111,274,517 V152L probably damaging Het
Arhgap44 A G 11: 65,067,161 probably benign Het
Atad5 T A 11: 80,108,579 V895D possibly damaging Het
Card9 T G 2: 26,358,017 probably null Het
Ccer1 T C 10: 97,693,840 S122P unknown Het
Ccr2 A G 9: 124,105,675 probably benign Het
Dsg1a T A 18: 20,340,324 I818N possibly damaging Het
Ear10 G T 14: 43,923,317 L18I probably damaging Het
Gm13089 T A 4: 143,697,340 E293V probably benign Het
Mertk A G 2: 128,777,454 Y544C probably damaging Het
Miga1 A T 3: 152,285,341 probably benign Het
Myo18a T C 11: 77,778,235 V307A probably damaging Het
Olfr1354 T A 10: 78,916,939 L33H probably damaging Het
Olfr488 A T 7: 108,255,703 I145N possibly damaging Het
Pou2f3 T C 9: 43,125,089 probably benign Het
Prickle2 A C 6: 92,376,422 S744A probably benign Het
Prkcb T A 7: 122,425,047 probably null Het
Prkd2 A G 7: 16,869,832 T813A probably benign Het
Prkra G A 2: 76,633,547 T257M probably damaging Het
Rbm18 C T 2: 36,122,874 R102Q probably damaging Het
Rbsn A G 6: 92,190,326 S446P probably benign Het
Sdccag8 A T 1: 176,948,362 K613I probably damaging Het
Serbp1 G A 6: 67,267,119 G8D probably damaging Het
Slc6a2 T A 8: 92,972,762 Y139* probably null Het
Slc7a2 T A 8: 40,905,584 F321L probably damaging Het
Slco1b2 G A 6: 141,648,553 S48N probably damaging Het
Ssbp2 G T 13: 91,642,371 V118L possibly damaging Het
Sugp1 T A 8: 70,059,862 probably benign Het
Taar5 C A 10: 23,970,985 R94S possibly damaging Het
Tgs1 G T 4: 3,586,181 A353S probably benign Het
Trav1 A G 14: 52,428,642 E32G probably damaging Het
Trp53bp2 T C 1: 182,431,595 V71A probably benign Het
Vmn2r50 T C 7: 10,050,325 Y74C probably damaging Het
Wars A T 12: 108,875,780 M147K probably damaging Het
Other mutations in Rpgrip1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rpgrip1l APN 8 91263574 missense possibly damaging 0.52
IGL00932:Rpgrip1l APN 8 91275637 missense probably benign 0.33
IGL01113:Rpgrip1l APN 8 91260739 intron probably benign
IGL01151:Rpgrip1l APN 8 91275149 missense probably damaging 1.00
IGL01321:Rpgrip1l APN 8 91260873 nonsense probably null
IGL01384:Rpgrip1l APN 8 91273640 missense probably benign 0.00
IGL01634:Rpgrip1l APN 8 91252543 missense probably benign
IGL01634:Rpgrip1l APN 8 91252544 missense probably benign 0.25
IGL01781:Rpgrip1l APN 8 91270218 missense probably benign 0.16
IGL01784:Rpgrip1l APN 8 91270461 missense possibly damaging 0.56
IGL02034:Rpgrip1l APN 8 91251148 critical splice donor site probably null
IGL02250:Rpgrip1l APN 8 91232861 missense probably benign 0.00
IGL02285:Rpgrip1l APN 8 91232907 missense possibly damaging 0.92
IGL02634:Rpgrip1l APN 8 91225344 splice site probably benign
IGL02736:Rpgrip1l APN 8 91263591 missense possibly damaging 0.91
IGL02825:Rpgrip1l APN 8 91304805 missense probably damaging 0.99
IGL03031:Rpgrip1l APN 8 91260783 missense probably damaging 1.00
IGL03184:Rpgrip1l APN 8 91300809 missense probably damaging 1.00
P0005:Rpgrip1l UTSW 8 91299225 splice site probably benign
R0118:Rpgrip1l UTSW 8 91270122 missense probably damaging 1.00
R0490:Rpgrip1l UTSW 8 91299845 splice site probably benign
R0599:Rpgrip1l UTSW 8 91305000 missense probably damaging 1.00
R1514:Rpgrip1l UTSW 8 91260750 missense probably damaging 1.00
R1648:Rpgrip1l UTSW 8 91252889 missense probably damaging 1.00
R1914:Rpgrip1l UTSW 8 91232924 missense probably benign 0.13
R1915:Rpgrip1l UTSW 8 91232924 missense probably benign 0.13
R2093:Rpgrip1l UTSW 8 91270132 missense possibly damaging 0.87
R2225:Rpgrip1l UTSW 8 91221467 missense probably benign 0.45
R2504:Rpgrip1l UTSW 8 91280716 critical splice donor site probably null
R3859:Rpgrip1l UTSW 8 91263658 missense probably benign 0.00
R4118:Rpgrip1l UTSW 8 91252907 missense probably benign
R4801:Rpgrip1l UTSW 8 91270177 missense probably damaging 1.00
R4802:Rpgrip1l UTSW 8 91270177 missense probably damaging 1.00
R4921:Rpgrip1l UTSW 8 91261009 missense probably benign 0.05
R4976:Rpgrip1l UTSW 8 91280816 missense probably damaging 1.00
R5092:Rpgrip1l UTSW 8 91221384 nonsense probably null
R5099:Rpgrip1l UTSW 8 91248722 missense probably benign 0.20
R5119:Rpgrip1l UTSW 8 91280816 missense probably damaging 1.00
R5141:Rpgrip1l UTSW 8 91260918 missense probably benign 0.29
R5793:Rpgrip1l UTSW 8 91260772 missense probably benign 0.06
R5847:Rpgrip1l UTSW 8 91304985 missense probably damaging 1.00
R5871:Rpgrip1l UTSW 8 91221386 missense possibly damaging 0.89
R5916:Rpgrip1l UTSW 8 91252913 missense possibly damaging 0.93
R6619:Rpgrip1l UTSW 8 91232871 missense possibly damaging 0.69
R6654:Rpgrip1l UTSW 8 91220205 missense probably benign 0.36
R6984:Rpgrip1l UTSW 8 91260798 missense probably benign 0.03
Z1088:Rpgrip1l UTSW 8 91220179 makesense probably null
Z1088:Rpgrip1l UTSW 8 91260975 missense possibly damaging 0.96
Z1088:Rpgrip1l UTSW 8 91270120 missense possibly damaging 0.89
Posted On2015-12-18