Incidental Mutation 'R5696:Rp1l1'
ID 450700
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 64229880-64270955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64267195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 927 (D927G)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably damaging
Transcript: ENSMUST00000058229
AA Change: D927G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: D927G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly 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
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
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
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'- ACATGCTTTGGGAGGGAGTC -3'
(R):5'- ATGCAGATCACCTCCCAGTC -3'

Sequencing Primer
(F):5'- GTCTGCAAGCAACGGTAGTACC -3'
(R):5'- ACACAGAGCCAGGTCCTGAG -3'
Posted On 2017-01-03