Incidental Mutation 'IGL02430:Rp1l1'
ID 293092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL02430
Quality Score
Status
Chromosome 14
Chromosomal Location 63992506-64035025 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64029286 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 774 (T774S)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably benign
Transcript: ENSMUST00000058229
AA Change: T774S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: T774S

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
DCX 37 121 1.58e-13 SMART
DCX 155 239 1e-15 SMART
low complexity region 709 728 N/A INTRINSIC
low complexity region 870 884 N/A INTRINSIC
low complexity region 1159 1177 N/A INTRINSIC
low complexity region 1228 1239 N/A INTRINSIC
low complexity region 1612 1618 N/A INTRINSIC
low complexity region 1642 1652 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224314
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,522,760 E1249G probably benign Het
C8a G A 4: 104,817,522 T540I probably damaging Het
Clcnkb C A 4: 141,409,390 W388L possibly damaging Het
Cnbp A T 6: 87,845,178 Y114* probably null Het
Col13a1 A G 10: 61,874,751 V337A probably benign Het
Cyp2e1 A G 7: 140,770,226 K275E probably damaging Het
Dchs1 A G 7: 105,771,971 V414A probably benign Het
Ebf1 G A 11: 44,924,576 probably null Het
Gabbr1 C T 17: 37,056,308 R198* probably null Het
Gm12800 A G 4: 101,910,280 Y242C probably benign Het
Gpaa1 T C 15: 76,332,188 S36P possibly damaging Het
Hipk1 A G 3: 103,760,655 V532A probably damaging Het
Klhl18 A T 9: 110,437,401 C217S probably benign Het
Lmntd1 T A 6: 145,413,414 T191S probably benign Het
Ltbp2 T A 12: 84,799,401 Y925F probably damaging Het
Lvrn A G 18: 46,894,730 I871V probably benign Het
Mrgprb1 A G 7: 48,447,661 S168P possibly damaging Het
Olfr495 A T 7: 108,395,722 I201F probably benign Het
Olfr739 A G 14: 50,425,151 I211V probably benign Het
Pcnx T A 12: 81,919,322 N754K possibly damaging Het
Plaa A T 4: 94,582,573 M442K probably benign Het
Pole3 T C 4: 62,524,819 N28S possibly damaging Het
Prlr A G 15: 10,325,391 K4E probably damaging Het
Selp C A 1: 164,126,383 P84Q probably damaging Het
Sh3bp4 T A 1: 89,153,163 W901R probably null Het
Slc6a20b A G 9: 123,597,240 Y527H probably damaging Het
Slit3 T A 11: 35,177,774 probably null Het
Spidr C T 16: 16,114,910 D169N probably damaging Het
Sstr2 T C 11: 113,624,804 L183P probably damaging Het
Tmem62 C T 2: 120,986,662 T233I probably damaging Het
Uba7 A G 9: 107,979,468 probably benign Het
Ubc A T 5: 125,387,570 I231N probably damaging Het
Ubl3 A T 5: 148,551,956 D8E probably benign Het
Unc5a A G 13: 55,002,482 I465M probably damaging Het
Vmn2r106 A G 17: 20,278,896 I251T probably benign Het
Vwa8 T C 14: 78,934,645 probably null Het
Washc5 A G 15: 59,366,291 Y195H probably damaging Het
Wdr27 A C 17: 14,901,800 S615A probably damaging Het
Zfp160 T A 17: 21,025,530 L114H possibly damaging Het
Zfp523 T C 17: 28,195,139 probably benign Het
Other mutations in Rp1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Rp1l1 APN 14 64028725 missense probably benign 0.01
IGL02063:Rp1l1 APN 14 64029536 missense probably damaging 0.99
IGL02132:Rp1l1 APN 14 64028810 missense probably benign
IGL02977:Rp1l1 APN 14 64028150 missense probably benign 0.01
IGL03213:Rp1l1 APN 14 64028415 missense probably damaging 0.98
IGL03346:Rp1l1 APN 14 64029440 missense probably benign
R0085:Rp1l1 UTSW 14 64022295 missense probably damaging 0.99
R0347:Rp1l1 UTSW 14 64030804 nonsense probably null
R0362:Rp1l1 UTSW 14 64031066 nonsense probably null
R0369:Rp1l1 UTSW 14 64029388 missense possibly damaging 0.84
R0538:Rp1l1 UTSW 14 64022092 missense probably damaging 1.00
R0544:Rp1l1 UTSW 14 64032066 missense probably benign 0.00
R0780:Rp1l1 UTSW 14 64030351 missense possibly damaging 0.94
R0944:Rp1l1 UTSW 14 64032232 missense probably benign 0.05
R1051:Rp1l1 UTSW 14 64032535 missense probably damaging 0.99
R1126:Rp1l1 UTSW 14 64030469 missense probably damaging 1.00
R1450:Rp1l1 UTSW 14 64028150 missense probably benign 0.01
R1483:Rp1l1 UTSW 14 64029047 missense possibly damaging 0.76
R1508:Rp1l1 UTSW 14 64030892 missense possibly damaging 0.83
R1553:Rp1l1 UTSW 14 64031894 missense probably benign 0.00
R1651:Rp1l1 UTSW 14 64030993 missense probably damaging 0.97
R1682:Rp1l1 UTSW 14 64028968 missense probably damaging 0.98
R1809:Rp1l1 UTSW 14 64027966 missense probably benign 0.18
R1885:Rp1l1 UTSW 14 64028390 missense probably benign 0.01
R1887:Rp1l1 UTSW 14 64028390 missense probably benign 0.01
R1898:Rp1l1 UTSW 14 64031590 missense probably benign 0.04
R1924:Rp1l1 UTSW 14 64031543 missense probably benign
R1939:Rp1l1 UTSW 14 64029593 missense probably benign
R1941:Rp1l1 UTSW 14 64022252 missense probably damaging 1.00
R2129:Rp1l1 UTSW 14 64028966 missense possibly damaging 0.93
R2363:Rp1l1 UTSW 14 64029998 missense possibly damaging 0.55
R3894:Rp1l1 UTSW 14 64029307 missense probably benign
R3974:Rp1l1 UTSW 14 64030309 missense probably damaging 1.00
R3975:Rp1l1 UTSW 14 64030309 missense probably damaging 1.00
R3976:Rp1l1 UTSW 14 64030309 missense probably damaging 1.00
R4072:Rp1l1 UTSW 14 64028132 missense probably damaging 1.00
R4672:Rp1l1 UTSW 14 64031270 missense probably damaging 1.00
R4673:Rp1l1 UTSW 14 64031270 missense probably damaging 1.00
R4749:Rp1l1 UTSW 14 64029800 missense probably damaging 0.99
R4755:Rp1l1 UTSW 14 64030070 missense probably benign 0.34
R4877:Rp1l1 UTSW 14 64026171 missense probably benign 0.00
R4930:Rp1l1 UTSW 14 64032206 missense probably benign
R5039:Rp1l1 UTSW 14 64031356 missense probably benign 0.21
R5106:Rp1l1 UTSW 14 64027946 missense probably damaging 1.00
R5184:Rp1l1 UTSW 14 64030180 missense probably damaging 1.00
R5215:Rp1l1 UTSW 14 64030013 missense probably benign 0.01
R5409:Rp1l1 UTSW 14 64030621 missense probably benign 0.02
R5575:Rp1l1 UTSW 14 64030984 missense probably benign 0.23
R5696:Rp1l1 UTSW 14 64029746 missense probably damaging 0.99
R5739:Rp1l1 UTSW 14 64032170 missense probably benign 0.01
R5878:Rp1l1 UTSW 14 64028906 missense probably benign 0.09
R6133:Rp1l1 UTSW 14 64030096 missense probably damaging 1.00
R6134:Rp1l1 UTSW 14 64030096 missense probably damaging 1.00
R6135:Rp1l1 UTSW 14 64030096 missense probably damaging 1.00
R6428:Rp1l1 UTSW 14 64032389 missense possibly damaging 0.92
R6594:Rp1l1 UTSW 14 64031677 nonsense probably null
R6736:Rp1l1 UTSW 14 64029724 missense possibly damaging 0.93
R6800:Rp1l1 UTSW 14 64031150 missense possibly damaging 0.92
R6848:Rp1l1 UTSW 14 64028218 missense possibly damaging 0.79
R6878:Rp1l1 UTSW 14 64031852 missense probably benign 0.00
R6922:Rp1l1 UTSW 14 64030385 missense possibly damaging 0.93
R6980:Rp1l1 UTSW 14 64028720 missense probably benign 0.02
R7053:Rp1l1 UTSW 14 64031509 missense possibly damaging 0.68
R7151:Rp1l1 UTSW 14 64029026 missense possibly damaging 0.73
R7291:Rp1l1 UTSW 14 64032298 missense probably benign 0.10
R7335:Rp1l1 UTSW 14 64031998 missense probably benign 0.00
R7344:Rp1l1 UTSW 14 64029620 missense probably benign 0.00
R7470:Rp1l1 UTSW 14 64028566 missense probably benign
R7570:Rp1l1 UTSW 14 64031574 nonsense probably null
R7585:Rp1l1 UTSW 14 64030139 missense probably damaging 0.96
R7591:Rp1l1 UTSW 14 64026109 missense probably damaging 1.00
R7667:Rp1l1 UTSW 14 64029803 missense probably benign 0.04
R7862:Rp1l1 UTSW 14 64028027 missense probably damaging 1.00
R7935:Rp1l1 UTSW 14 64031225 missense probably damaging 0.99
R8256:Rp1l1 UTSW 14 64028153 missense probably benign 0.18
R8403:Rp1l1 UTSW 14 64028809 missense probably benign 0.21
R8709:Rp1l1 UTSW 14 64031846 missense probably damaging 0.98
R8817:Rp1l1 UTSW 14 64030636 missense probably benign
R8971:Rp1l1 UTSW 14 64021996 missense probably damaging 1.00
R9380:Rp1l1 UTSW 14 64029026 missense probably benign 0.29
R9438:Rp1l1 UTSW 14 64028125 missense possibly damaging 0.90
R9501:Rp1l1 UTSW 14 64028590 missense probably benign 0.00
R9652:Rp1l1 UTSW 14 64032265 missense probably damaging 1.00
R9683:Rp1l1 UTSW 14 64031677 missense probably damaging 0.97
X0057:Rp1l1 UTSW 14 64030040 missense probably benign 0.14
X0063:Rp1l1 UTSW 14 64029223 missense probably damaging 0.98
Z1088:Rp1l1 UTSW 14 64028758 missense possibly damaging 0.80
Z1088:Rp1l1 UTSW 14 64030378 missense probably benign 0.01
Z1176:Rp1l1 UTSW 14 64029144 missense probably damaging 1.00
Z1177:Rp1l1 UTSW 14 64032297 missense probably damaging 0.99
Posted On 2015-04-16