Incidental Mutation 'R8817:Rp1l1'
ID 672840
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
MMRRC Submission 068727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R8817 (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 T at 64268085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1224 (R1224W)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably benign
Transcript: ENSMUST00000058229
AA Change: R1224W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: R1224W

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,400,361 (GRCm39) V139A probably benign Het
Aass A T 6: 23,097,195 (GRCm39) Y41* probably null Het
AI429214 G A 8: 37,461,268 (GRCm39) V139I probably benign Het
Cacna1a G A 8: 85,365,426 (GRCm39) A2190T probably benign Het
Cstpp1 A G 2: 91,107,343 (GRCm39) Y320H probably benign Het
Cutc T C 19: 43,744,113 (GRCm39) V38A probably benign Het
Cxcl10 G T 5: 92,495,230 (GRCm39) P98H probably damaging Het
Dop1a T C 9: 86,396,003 (GRCm39) S822P possibly damaging Het
Dusp19 T C 2: 80,454,631 (GRCm39) L117P probably damaging Het
Emc3 A G 6: 113,492,868 (GRCm39) F261S probably damaging Het
Ephx2 T C 14: 66,344,725 (GRCm39) T200A probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
Ethe1 T C 7: 24,305,727 (GRCm39) I158T probably damaging Het
Fancm C T 12: 65,167,331 (GRCm39) R1547C probably damaging Het
Fer1l4 T A 2: 155,890,143 (GRCm39) T261S probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gabrp A T 11: 33,504,464 (GRCm39) S284T possibly damaging Het
Gga2 G A 7: 121,590,845 (GRCm39) R488* probably null Het
Gm9758 A G 5: 14,962,230 (GRCm39) L126S probably damaging Het
Gse1 T C 8: 121,294,542 (GRCm39) F290L probably damaging Het
Hdgfl1 A G 13: 26,954,068 (GRCm39) S2P probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Lama2 A T 10: 27,063,869 (GRCm39) W1307R probably damaging Het
Map3k6 A G 4: 132,974,071 (GRCm39) K517E probably benign Het
Mbl1 T A 14: 40,875,555 (GRCm39) L3Q unknown Het
Mepe G T 5: 104,485,151 (GRCm39) R97L probably benign Het
Minpp1 T A 19: 32,463,747 (GRCm39) M136K possibly damaging Het
Mrgprb1 T A 7: 48,097,070 (GRCm39) I281F probably benign Het
Naip5 T C 13: 100,349,207 (GRCm39) I1374V probably benign Het
Or14j8 A G 17: 38,263,273 (GRCm39) I214T probably damaging Het
Or4c12 A G 2: 89,773,790 (GRCm39) L223S probably damaging Het
Or52e19b A T 7: 103,032,825 (GRCm39) I128N probably damaging Het
Or8g34 C T 9: 39,373,387 (GRCm39) S217F probably damaging Het
Or8g37 G T 9: 39,730,939 (GRCm39) M1I probably null Het
Pamr1 T G 2: 102,464,766 (GRCm39) V305G probably benign Het
Pcbp3 T C 10: 76,625,670 (GRCm39) T125A probably benign Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Pitpnm3 T C 11: 71,941,894 (GRCm39) E971G possibly damaging Het
Pkdrej A G 15: 85,702,774 (GRCm39) V1054A probably damaging Het
Plcb1 G A 2: 135,175,429 (GRCm39) probably benign Het
Prpf40a T C 2: 53,042,971 (GRCm39) K480E probably damaging Het
Psd3 A G 8: 68,413,135 (GRCm39) I465T possibly damaging Het
Pskh1 C T 8: 106,656,352 (GRCm39) R343W probably damaging Het
Ptprz1 A T 6: 23,007,371 (GRCm39) T1645S probably damaging Het
Rasal1 T C 5: 120,808,416 (GRCm39) F483L probably damaging Het
Rbm28 T C 6: 29,155,023 (GRCm39) probably benign Het
Recql G A 6: 142,304,612 (GRCm39) probably benign Het
Rnf40 T C 7: 127,196,332 (GRCm39) V760A probably damaging Het
Rpgrip1 T C 14: 52,378,056 (GRCm39) V468A probably benign Het
Ryr2 T A 13: 11,750,509 (GRCm39) I1921F possibly damaging Het
Sirpa G A 2: 129,435,558 (GRCm39) G9D unknown Het
Slc28a2b A T 2: 122,348,988 (GRCm39) T305S possibly damaging Het
Slc40a1 A C 1: 45,948,699 (GRCm39) V527G probably damaging Het
Smarca4 T A 9: 21,547,497 (GRCm39) M260K probably benign Het
Smarca5 A T 8: 81,460,379 (GRCm39) M119K probably benign Het
Smg1 A G 7: 117,758,887 (GRCm39) V2206A unknown Het
Sp4 A T 12: 118,225,624 (GRCm39) V580D possibly damaging Het
Spata31d1c G A 13: 65,182,376 (GRCm39) C75Y probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Srcap T C 7: 127,152,395 (GRCm39) S2220P probably benign Het
Stra6 G T 9: 58,059,265 (GRCm39) V543F possibly damaging Het
Tenm4 T A 7: 96,523,335 (GRCm39) F1626I probably benign Het
Tjp1 T C 7: 64,952,810 (GRCm39) N1508S probably benign Het
Trrap T A 5: 144,782,348 (GRCm39) L3298Q probably damaging Het
Tsn A G 1: 118,232,470 (GRCm39) L135P probably damaging Het
Ttl A T 2: 128,910,778 (GRCm39) H54L probably damaging Het
Ttn T A 2: 76,660,251 (GRCm39) T12110S unknown Het
Uba6 T C 5: 86,296,772 (GRCm39) I306V probably null Het
Ubap2 A G 4: 41,223,425 (GRCm39) S204P possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Ush2a A T 1: 187,995,231 (GRCm39) M1L probably benign Het
Vmn1r159 C A 7: 22,542,559 (GRCm39) V158F probably benign Het
Wif1 A G 10: 120,932,621 (GRCm39) H333R possibly damaging Het
Zfp282 T A 6: 47,881,760 (GRCm39) N482K 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
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'- TAGGGACTGAGGACTTCACAC -3'
(R):5'- TCCTGACTGCAGACCCTAAC -3'

Sequencing Primer
(F):5'- TGAGGACTTCACACCCACCTC -3'
(R):5'- GACTGCAGACCCTAACCCCTTC -3'
Posted On 2021-04-30