Incidental Mutation 'R5215:Rp1l1'
ID 403443
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
MMRRC Submission 042788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5215 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 64229880-64270955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64267462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 1016 (S1016L)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably benign
Transcript: ENSMUST00000058229
AA Change: S1016L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: S1016L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (79/79)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 C A 9: 106,120,574 (GRCm39) A73S probably benign Het
Aldoart2 G A 12: 55,612,204 (GRCm39) R43Q probably benign Het
Ano4 T C 10: 89,153,165 (GRCm39) H49R possibly damaging Het
Atic T C 1: 71,603,666 (GRCm39) S161P probably damaging Het
Atp6v1c2 T C 12: 17,341,659 (GRCm39) E244G probably benign Het
Cd164l2 C A 4: 132,948,789 (GRCm39) L42I unknown Het
Cdc42ep2 T C 19: 5,968,238 (GRCm39) R156G probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk5 T A 5: 24,624,459 (GRCm39) N265I probably benign Het
Cfap69 G T 5: 5,639,133 (GRCm39) N262K possibly damaging Het
Chd6 C T 2: 160,791,873 (GRCm39) V2495M probably damaging Het
Cps1 T A 1: 67,205,539 (GRCm39) F521I possibly damaging Het
Crb2 A G 2: 37,683,765 (GRCm39) E1089G probably benign Het
Decr1 T C 4: 15,929,795 (GRCm39) D166G probably damaging Het
Dhodh G A 8: 110,332,975 (GRCm39) probably benign Het
Dnaaf5 G A 5: 139,147,632 (GRCm39) V399I probably benign Het
Dnah11 T C 12: 118,121,096 (GRCm39) T526A probably benign Het
Drosha T C 15: 12,885,219 (GRCm39) probably benign Het
Elfn2 T A 15: 78,558,401 (GRCm39) I49F probably damaging Het
Gabra1 T C 11: 42,045,655 (GRCm39) T152A probably damaging Het
Gigyf2 C A 1: 87,292,988 (GRCm39) T85K probably damaging Het
Gimap8 A T 6: 48,628,017 (GRCm39) Y258F possibly damaging Het
Glmn A G 5: 107,709,752 (GRCm39) C351R probably benign Het
Gm10032 T C 14: 67,029,998 (GRCm39) noncoding transcript Het
Gorasp2 G A 2: 70,519,598 (GRCm39) A328T probably benign Het
Grin1 A T 2: 25,193,919 (GRCm39) H392Q probably benign Het
Gzmn A G 14: 56,405,319 (GRCm39) V55A probably damaging Het
Herc4 T A 10: 63,124,876 (GRCm39) S497T probably benign Het
Hrc A T 7: 44,985,515 (GRCm39) D222V probably damaging Het
Iars2 T C 1: 185,026,966 (GRCm39) H761R probably damaging Het
Jmjd1c T A 10: 67,076,480 (GRCm39) D2101E possibly damaging Het
Kcng1 C T 2: 168,105,053 (GRCm39) M264I probably benign Het
Klra14-ps C A 6: 130,134,646 (GRCm39) noncoding transcript Het
Krtap5-3 T A 7: 141,755,974 (GRCm39) C270* probably null Het
Lama3 A G 18: 12,710,957 (GRCm39) H3164R probably damaging Het
Lcor T C 19: 41,574,371 (GRCm39) I1042T probably damaging Het
Mdn1 T C 4: 32,741,418 (GRCm39) M3840T possibly damaging Het
Mtor A T 4: 148,538,440 (GRCm39) H166L probably benign Het
Mx1 T C 16: 97,249,560 (GRCm39) N556D possibly damaging Het
Oca2 A T 7: 55,945,246 (GRCm39) R285* probably null Het
Or12d13 T A 17: 37,647,704 (GRCm39) I140F probably benign Het
Or2at1 A G 7: 99,416,717 (GRCm39) E116G probably damaging Het
Or4k39 T C 2: 111,239,631 (GRCm39) noncoding transcript Het
Or56a3b G A 7: 104,775,771 (GRCm39) H246Y probably damaging Het
Or8g33 A T 9: 39,337,919 (GRCm39) Y149* probably null Het
Pan3 A G 5: 147,391,915 (GRCm39) probably null Het
Pard3 G A 8: 128,104,745 (GRCm39) V496M probably damaging Het
Pdcd2l A T 7: 33,892,314 (GRCm39) V185D possibly damaging Het
Pgghg T C 7: 140,526,477 (GRCm39) V623A possibly damaging Het
Pigu C A 2: 155,177,249 (GRCm39) probably benign Het
Pkmyt1 G A 17: 23,951,566 (GRCm39) R40Q probably benign Het
Prag1 G A 8: 36,567,043 (GRCm39) A65T probably benign Het
Prkdc C A 16: 15,589,985 (GRCm39) T2616N possibly damaging Het
Prpf8 G A 11: 75,391,030 (GRCm39) E1360K probably benign Het
Ptprt C T 2: 162,120,084 (GRCm39) V128M probably damaging Het
Rprd1a G T 18: 24,621,257 (GRCm39) D307E probably damaging Het
Slc11a1 A T 1: 74,422,936 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,457,386 (GRCm39) M209K probably damaging Het
Slf2 T G 19: 44,936,476 (GRCm39) L707R probably damaging Het
Son T A 16: 91,453,563 (GRCm39) M770K probably damaging Het
Taf6l T C 19: 8,755,417 (GRCm39) probably benign Het
Tbc1d2 C A 4: 46,614,006 (GRCm39) V692L probably benign Het
Tnpo3 C T 6: 29,582,152 (GRCm39) probably benign Het
Txndc16 A T 14: 45,448,597 (GRCm39) probably benign Het
Ubr1 T C 2: 120,734,525 (GRCm39) K1125R probably benign Het
Vmn2r9 A G 5: 108,994,351 (GRCm39) S433P probably benign Het
Zc3h12a A G 4: 125,020,706 (GRCm39) S46P probably benign Het
Zwilch T G 9: 64,054,156 (GRCm39) I490L probably benign 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
R5106:Rp1l1 UTSW 14 64,265,395 (GRCm39) missense probably damaging 1.00
R5184:Rp1l1 UTSW 14 64,267,629 (GRCm39) missense probably damaging 1.00
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'- AAGCCGGTACTCATGACGTATG -3'
(R):5'- TAGAGACCTCTGGTAGACTGC -3'

Sequencing Primer
(F):5'- CACAGAGGTGCCCAGTGATG -3'
(R):5'- CTCTGGTAGACTGCTGGGC -3'
Posted On 2016-07-22