Incidental Mutation 'R5106:Rp1l1'
ID 392650
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
MMRRC Submission 042694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5106 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 64229880-64270955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64265395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 327 (D327V)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably damaging
Transcript: ENSMUST00000058229
AA Change: D327V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: D327V

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
Meta Mutation Damage Score 0.3436 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (62/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf2 G A 11: 43,376,880 (GRCm39) R84Q possibly damaging Het
Carmil2 T A 8: 106,420,638 (GRCm39) probably null Het
Cenpf A T 1: 189,416,005 (GRCm39) C107S probably benign Het
Cideb T C 14: 55,991,982 (GRCm39) M191V probably benign Het
Cope C A 8: 70,763,097 (GRCm39) R213S possibly damaging Het
Ctcf T C 8: 106,408,130 (GRCm39) probably benign Het
Daam2 T C 17: 49,783,489 (GRCm39) Y647C probably damaging Het
Dlg2 T C 7: 92,091,894 (GRCm39) Y920H probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fdps C A 3: 89,006,710 (GRCm39) R127L probably damaging Het
G6pd2 C T 5: 61,967,695 (GRCm39) T490I probably benign Het
Gm6401 A G 14: 41,787,463 (GRCm39) M121T probably damaging Het
Gnl2 T C 4: 124,947,329 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l A G 17: 89,002,073 (GRCm39) S310G possibly damaging Het
Igdcc4 T C 9: 65,031,983 (GRCm39) F500L probably damaging Het
Lgr4 A T 2: 109,827,940 (GRCm39) H207L probably damaging Het
Llcfc1 A G 6: 41,662,310 (GRCm39) M105V probably benign Het
Macroh2a1 A G 13: 56,236,106 (GRCm39) V213A possibly damaging Het
Map2k3 A G 11: 60,832,708 (GRCm39) K18E probably damaging Het
Mccc1 T A 3: 36,026,713 (GRCm39) D528V probably benign Het
Nedd4l C T 18: 65,326,376 (GRCm39) T568M probably damaging Het
Nr3c1 A C 18: 39,619,654 (GRCm39) I211S possibly damaging Het
Nudt5 C T 2: 5,859,640 (GRCm39) probably benign Het
Or2ag20 T A 7: 106,464,595 (GRCm39) M136K probably damaging Het
Or5d46 T C 2: 88,170,454 (GRCm39) Y182H probably benign Het
Or6c202 T C 10: 128,996,106 (GRCm39) Y249C probably damaging Het
Or9k2b A T 10: 130,016,177 (GRCm39) S191T probably benign Het
Pcid2 A T 8: 13,129,648 (GRCm39) F326I probably damaging Het
Pcnt A T 10: 76,237,278 (GRCm39) I1336N probably damaging Het
Pomk T C 8: 26,476,404 (GRCm39) D50G probably benign Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Ptprz1 A G 6: 23,000,027 (GRCm39) T706A probably benign Het
Rad54l G A 4: 115,956,961 (GRCm39) probably benign Het
Raph1 T C 1: 60,572,459 (GRCm39) D36G probably damaging Het
Rgs7 A G 1: 174,904,416 (GRCm39) S166P possibly damaging Het
Rnf183 C G 4: 62,346,465 (GRCm39) R111P probably damaging Het
Rpl3l A G 17: 24,951,411 (GRCm39) Y156C probably damaging Het
Slc25a54 G T 3: 109,020,180 (GRCm39) C398F probably benign Het
Slc39a2 A G 14: 52,132,988 (GRCm39) *310W probably null Het
Slit3 T C 11: 35,503,194 (GRCm39) C464R probably damaging Het
Smu1 A T 4: 40,743,104 (GRCm39) F345I possibly damaging Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stxbp3 T C 3: 108,702,243 (GRCm39) Y521C probably benign Het
Tenm4 T C 7: 96,492,356 (GRCm39) S1061P probably damaging Het
Thoc5 T C 11: 4,860,630 (GRCm39) S103P probably damaging Het
Tmem221 A G 8: 72,008,522 (GRCm39) F173L probably benign Het
Trit1 T C 4: 122,948,106 (GRCm39) probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r106 T C 17: 20,499,395 (GRCm39) probably null Het
Vmn2r38 C A 7: 9,078,169 (GRCm39) V738L possibly damaging Het
Zfp160 T A 17: 21,247,023 (GRCm39) H524Q probably damaging Het
Zfp791 T A 8: 85,837,259 (GRCm39) K202* probably null Het
Zfp985 T A 4: 147,668,612 (GRCm39) S493R probably damaging Het
Zkscan7 T C 9: 122,725,198 (GRCm39) probably benign Het
Zwilch A C 9: 64,060,866 (GRCm39) F329V probably damaging Het
Other mutations in Rp1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Rp1l1 APN 14 64,266,174 (GRCm39) missense probably benign 0.01
IGL02063:Rp1l1 APN 14 64,266,985 (GRCm39) missense probably damaging 0.99
IGL02132:Rp1l1 APN 14 64,266,259 (GRCm39) missense probably benign
IGL02430:Rp1l1 APN 14 64,266,735 (GRCm39) missense probably benign 0.00
IGL02977:Rp1l1 APN 14 64,265,599 (GRCm39) missense probably benign 0.01
IGL03213:Rp1l1 APN 14 64,265,864 (GRCm39) missense probably damaging 0.98
IGL03346:Rp1l1 APN 14 64,266,889 (GRCm39) missense probably benign
R0085:Rp1l1 UTSW 14 64,259,744 (GRCm39) missense probably damaging 0.99
R0347:Rp1l1 UTSW 14 64,268,253 (GRCm39) nonsense probably null
R0362:Rp1l1 UTSW 14 64,268,515 (GRCm39) nonsense probably null
R0369:Rp1l1 UTSW 14 64,266,837 (GRCm39) missense possibly damaging 0.84
R0538:Rp1l1 UTSW 14 64,259,541 (GRCm39) missense probably damaging 1.00
R0544:Rp1l1 UTSW 14 64,269,515 (GRCm39) missense probably benign 0.00
R0780:Rp1l1 UTSW 14 64,267,800 (GRCm39) missense possibly damaging 0.94
R0944:Rp1l1 UTSW 14 64,269,681 (GRCm39) missense probably benign 0.05
R1051:Rp1l1 UTSW 14 64,269,984 (GRCm39) missense probably damaging 0.99
R1126:Rp1l1 UTSW 14 64,267,918 (GRCm39) missense probably damaging 1.00
R1450:Rp1l1 UTSW 14 64,265,599 (GRCm39) missense probably benign 0.01
R1483:Rp1l1 UTSW 14 64,266,496 (GRCm39) missense possibly damaging 0.76
R1508:Rp1l1 UTSW 14 64,268,341 (GRCm39) missense possibly damaging 0.83
R1553:Rp1l1 UTSW 14 64,269,343 (GRCm39) missense probably benign 0.00
R1651:Rp1l1 UTSW 14 64,268,442 (GRCm39) missense probably damaging 0.97
R1682:Rp1l1 UTSW 14 64,266,417 (GRCm39) missense probably damaging 0.98
R1809:Rp1l1 UTSW 14 64,265,415 (GRCm39) missense probably benign 0.18
R1885:Rp1l1 UTSW 14 64,265,839 (GRCm39) missense probably benign 0.01
R1887:Rp1l1 UTSW 14 64,265,839 (GRCm39) missense probably benign 0.01
R1898:Rp1l1 UTSW 14 64,269,039 (GRCm39) missense probably benign 0.04
R1924:Rp1l1 UTSW 14 64,268,992 (GRCm39) missense probably benign
R1939:Rp1l1 UTSW 14 64,267,042 (GRCm39) missense probably benign
R1941:Rp1l1 UTSW 14 64,259,701 (GRCm39) missense probably damaging 1.00
R2129:Rp1l1 UTSW 14 64,266,415 (GRCm39) missense possibly damaging 0.93
R2363:Rp1l1 UTSW 14 64,267,447 (GRCm39) missense possibly damaging 0.55
R3894:Rp1l1 UTSW 14 64,266,756 (GRCm39) missense probably benign
R3974:Rp1l1 UTSW 14 64,267,758 (GRCm39) missense probably damaging 1.00
R3975:Rp1l1 UTSW 14 64,267,758 (GRCm39) missense probably damaging 1.00
R3976:Rp1l1 UTSW 14 64,267,758 (GRCm39) missense probably damaging 1.00
R4072:Rp1l1 UTSW 14 64,265,581 (GRCm39) missense probably damaging 1.00
R4672:Rp1l1 UTSW 14 64,268,719 (GRCm39) missense probably damaging 1.00
R4673:Rp1l1 UTSW 14 64,268,719 (GRCm39) missense probably damaging 1.00
R4749:Rp1l1 UTSW 14 64,267,249 (GRCm39) missense probably damaging 0.99
R4755:Rp1l1 UTSW 14 64,267,519 (GRCm39) missense probably benign 0.34
R4877:Rp1l1 UTSW 14 64,263,620 (GRCm39) missense probably benign 0.00
R4930:Rp1l1 UTSW 14 64,269,655 (GRCm39) missense probably benign
R5039:Rp1l1 UTSW 14 64,268,805 (GRCm39) missense probably benign 0.21
R5184:Rp1l1 UTSW 14 64,267,629 (GRCm39) missense probably damaging 1.00
R5215:Rp1l1 UTSW 14 64,267,462 (GRCm39) missense probably benign 0.01
R5409:Rp1l1 UTSW 14 64,268,070 (GRCm39) missense probably benign 0.02
R5575:Rp1l1 UTSW 14 64,268,433 (GRCm39) missense probably benign 0.23
R5696:Rp1l1 UTSW 14 64,267,195 (GRCm39) missense probably damaging 0.99
R5739:Rp1l1 UTSW 14 64,269,619 (GRCm39) missense probably benign 0.01
R5878:Rp1l1 UTSW 14 64,266,355 (GRCm39) missense probably benign 0.09
R6133:Rp1l1 UTSW 14 64,267,545 (GRCm39) missense probably damaging 1.00
R6134:Rp1l1 UTSW 14 64,267,545 (GRCm39) missense probably damaging 1.00
R6135:Rp1l1 UTSW 14 64,267,545 (GRCm39) missense probably damaging 1.00
R6428:Rp1l1 UTSW 14 64,269,838 (GRCm39) missense possibly damaging 0.92
R6594:Rp1l1 UTSW 14 64,269,126 (GRCm39) nonsense probably null
R6736:Rp1l1 UTSW 14 64,267,173 (GRCm39) missense possibly damaging 0.93
R6800:Rp1l1 UTSW 14 64,268,599 (GRCm39) missense possibly damaging 0.92
R6848:Rp1l1 UTSW 14 64,265,667 (GRCm39) missense possibly damaging 0.79
R6878:Rp1l1 UTSW 14 64,269,301 (GRCm39) missense probably benign 0.00
R6922:Rp1l1 UTSW 14 64,267,834 (GRCm39) missense possibly damaging 0.93
R6980:Rp1l1 UTSW 14 64,266,169 (GRCm39) missense probably benign 0.02
R7053:Rp1l1 UTSW 14 64,268,958 (GRCm39) missense possibly damaging 0.68
R7151:Rp1l1 UTSW 14 64,266,475 (GRCm39) missense possibly damaging 0.73
R7291:Rp1l1 UTSW 14 64,269,747 (GRCm39) missense probably benign 0.10
R7335:Rp1l1 UTSW 14 64,269,447 (GRCm39) missense probably benign 0.00
R7344:Rp1l1 UTSW 14 64,267,069 (GRCm39) missense probably benign 0.00
R7470:Rp1l1 UTSW 14 64,266,015 (GRCm39) missense probably benign
R7570:Rp1l1 UTSW 14 64,269,023 (GRCm39) nonsense probably null
R7585:Rp1l1 UTSW 14 64,267,588 (GRCm39) missense probably damaging 0.96
R7591:Rp1l1 UTSW 14 64,263,558 (GRCm39) missense probably damaging 1.00
R7667:Rp1l1 UTSW 14 64,267,252 (GRCm39) missense probably benign 0.04
R7862:Rp1l1 UTSW 14 64,265,476 (GRCm39) missense probably damaging 1.00
R7935:Rp1l1 UTSW 14 64,268,674 (GRCm39) missense probably damaging 0.99
R8256:Rp1l1 UTSW 14 64,265,602 (GRCm39) missense probably benign 0.18
R8403:Rp1l1 UTSW 14 64,266,258 (GRCm39) missense probably benign 0.21
R8709:Rp1l1 UTSW 14 64,269,295 (GRCm39) missense probably damaging 0.98
R8817:Rp1l1 UTSW 14 64,268,085 (GRCm39) missense probably benign
R8971:Rp1l1 UTSW 14 64,259,445 (GRCm39) missense probably damaging 1.00
R9380:Rp1l1 UTSW 14 64,266,475 (GRCm39) missense probably benign 0.29
R9438:Rp1l1 UTSW 14 64,265,574 (GRCm39) missense possibly damaging 0.90
R9501:Rp1l1 UTSW 14 64,266,039 (GRCm39) missense probably benign 0.00
R9652:Rp1l1 UTSW 14 64,269,714 (GRCm39) missense probably damaging 1.00
R9683:Rp1l1 UTSW 14 64,269,126 (GRCm39) missense probably damaging 0.97
X0057:Rp1l1 UTSW 14 64,267,489 (GRCm39) missense probably benign 0.14
X0063:Rp1l1 UTSW 14 64,266,672 (GRCm39) missense probably damaging 0.98
Z1088:Rp1l1 UTSW 14 64,267,827 (GRCm39) missense probably benign 0.01
Z1088:Rp1l1 UTSW 14 64,266,207 (GRCm39) missense possibly damaging 0.80
Z1176:Rp1l1 UTSW 14 64,266,593 (GRCm39) missense probably damaging 1.00
Z1177:Rp1l1 UTSW 14 64,269,746 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTAGCTCACTGCCTTGTTC -3'
(R):5'- TGCAACAGAACCTGTCAGCC -3'

Sequencing Primer
(F):5'- GACAGGTTGCTGGGGAC -3'
(R):5'- AGAACCTGTCAGCCTCCCTC -3'
Posted On 2016-06-15