Incidental Mutation 'R9380:Rp1l1'
ID 709972
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9380 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 64229880-64270955 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64266475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 687 (D687G)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably benign
Transcript: ENSMUST00000058229
AA Change: D687G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: D687G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 T G 1: 78,659,602 (GRCm39) C85G possibly damaging Het
Alox12e A T 11: 70,206,994 (GRCm39) probably null Het
Aoc1l2 T C 6: 48,910,064 (GRCm39) I667T probably damaging Het
Asb10 A C 5: 24,739,103 (GRCm39) probably null Het
B3galt9 G A 2: 34,729,029 (GRCm39) C276Y probably damaging Het
Bcl2a1d G A 9: 88,613,935 (GRCm39) probably benign Het
Camsap3 A T 8: 3,653,999 (GRCm39) K556N probably benign Het
Cd300lf T A 11: 115,015,153 (GRCm39) T146S probably benign Het
Chuk C A 19: 44,062,958 (GRCm39) A744S unknown Het
Clint1 A T 11: 45,742,988 (GRCm39) M4L probably benign Het
Cnot4 T C 6: 35,029,865 (GRCm39) I344M possibly damaging Het
Cpne1 T C 2: 155,920,721 (GRCm39) D135G probably benign Het
Csgalnact2 C A 6: 118,105,840 (GRCm39) L159F probably damaging Het
Dnai2 T C 11: 114,635,989 (GRCm39) F325L probably benign Het
Dnal4 G A 15: 79,647,790 (GRCm39) S25L possibly damaging Het
Ep300 T C 15: 81,500,245 (GRCm39) M515T unknown Het
Ewsr1 T C 11: 5,043,730 (GRCm39) Y18C possibly damaging Het
Fam25a T C 14: 34,073,957 (GRCm39) T72A possibly damaging Het
Flii T C 11: 60,606,297 (GRCm39) Y1131C probably benign Het
Foxj1 C T 11: 116,222,547 (GRCm39) A419T possibly damaging Het
Fsd1l A G 4: 53,693,991 (GRCm39) T323A possibly damaging Het
Furin T C 7: 80,041,506 (GRCm39) I551V probably benign Het
Gbp11 A G 5: 105,475,202 (GRCm39) V382A probably benign Het
Gfod1 A C 13: 43,354,320 (GRCm39) D218E probably damaging Het
Glp2r A T 11: 67,637,572 (GRCm39) I153N possibly damaging Het
Gm11214 G T 4: 63,580,850 (GRCm39) P100T possibly damaging Het
Gne A T 4: 44,066,807 (GRCm39) F69I probably benign Het
Hsd3b2 T C 3: 98,619,453 (GRCm39) K164R probably damaging Het
Hspa1b T C 17: 35,177,170 (GRCm39) R272G probably damaging Het
Hydin C A 8: 111,290,504 (GRCm39) T3321N probably benign Het
Impg1 A T 9: 80,289,077 (GRCm39) S327T probably benign Het
Izumo2 T C 7: 44,364,812 (GRCm39) V159A probably benign Het
Kat6b T C 14: 21,678,926 (GRCm39) S430P probably damaging Het
Kcnj9 T A 1: 172,153,447 (GRCm39) T226S probably benign Het
Kl T A 5: 150,912,342 (GRCm39) M697K possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrrk1 G A 7: 65,928,331 (GRCm39) P1266S probably damaging Het
Med13 A T 11: 86,177,598 (GRCm39) N1499K probably benign Het
Mybbp1a A G 11: 72,333,668 (GRCm39) I182V probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nin A G 12: 70,074,805 (GRCm39) L1859P Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Or2y10 A G 11: 49,454,904 (GRCm39) D52G possibly damaging Het
Or4a67 A T 2: 88,598,530 (GRCm39) I43N probably damaging Het
Or4k1 C A 14: 50,377,770 (GRCm39) G109W probably damaging Het
Or8b50 A G 9: 38,518,415 (GRCm39) Y218C probably damaging Het
Osbpl8 T A 10: 111,108,980 (GRCm39) S421T probably damaging Het
Paqr7 A G 4: 134,234,350 (GRCm39) N69S probably damaging Het
Pcare A T 17: 72,056,351 (GRCm39) S1109T possibly damaging Het
Pdgfrb G A 18: 61,197,920 (GRCm39) G231D probably damaging Het
Pip5k1b A G 19: 24,356,417 (GRCm39) Y174H probably damaging Het
Pkd1 T A 17: 24,769,262 (GRCm39) L9Q unknown Het
Psmg4 A T 13: 34,350,080 (GRCm39) T71S probably benign Het
Ptpn23 A G 9: 110,221,581 (GRCm39) I173T possibly damaging Het
Qser1 G A 2: 104,619,691 (GRCm39) Q284* probably null Het
Rcc2 G T 4: 140,429,702 (GRCm39) A79S probably benign Het
Rgl3 G T 9: 21,888,123 (GRCm39) Q464K probably damaging Het
Rhov C A 2: 119,100,604 (GRCm39) R211L probably benign Het
Selenbp2 A G 3: 94,609,654 (GRCm39) I291V probably benign Het
Sh3glb2 A T 2: 30,238,625 (GRCm39) V189E probably damaging Het
Slc46a2 A G 4: 59,913,867 (GRCm39) I352T probably damaging Het
Sucla2 T A 14: 73,828,312 (GRCm39) N306K probably benign Het
Suco A G 1: 161,646,074 (GRCm39) V1209A possibly damaging Het
Tacc2 T A 7: 130,226,771 (GRCm39) L1152Q possibly damaging Het
Tanc1 A T 2: 59,665,796 (GRCm39) K1185M probably damaging Het
Tas2r114 A G 6: 131,666,381 (GRCm39) F216L probably benign Het
Tead1 A T 7: 112,441,105 (GRCm39) H78L possibly damaging Het
Tex12 T C 9: 50,469,586 (GRCm39) I64V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trank1 A G 9: 111,221,738 (GRCm39) E2825G probably benign Het
Trappc13 T A 13: 104,280,707 (GRCm39) Y399F probably damaging Het
Trim21 T C 7: 102,212,992 (GRCm39) D102G probably damaging Het
Trim27 G T 13: 21,364,680 (GRCm39) V6L probably benign Het
Trim55 A G 3: 19,728,559 (GRCm39) T457A probably benign Het
Trrap A G 5: 144,769,981 (GRCm39) E2716G probably benign Het
Usp10 T G 8: 120,682,943 (GRCm39) L712R probably damaging Het
Vldlr T A 19: 27,216,192 (GRCm39) C338S possibly damaging Het
Zfp946 A G 17: 22,673,680 (GRCm39) I145V 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
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
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'- CATTCTGGCTCTCAGGACACAC -3'
(R):5'- TGGCAAACACAGTCTGAGCC -3'

Sequencing Primer
(F):5'- CTCTCAGGACACACAGAGAGATG -3'
(R):5'- ACAGTCTGAGCCACTCACGG -3'
Posted On 2022-04-18