Incidental Mutation 'R5739:Rp1l1'
ID 444716
Institutional Source Beutler Lab
Gene Symbol Rp1l1
Ensembl Gene ENSMUSG00000046049
Gene Name retinitis pigmentosa 1 homolog like 1
Synonyms Dcdc4, Rp1hl1
MMRRC Submission 043351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5739 (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 64269619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1735 (E1735V)
Ref Sequence ENSEMBL: ENSMUSP00000055449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058229]
AlphaFold Q8CGM2
Predicted Effect probably benign
Transcript: ENSMUST00000058229
AA Change: E1735V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: E1735V

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 0.1014 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (82/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,220,717 (GRCm39) S50T probably benign Het
A930011G23Rik A G 5: 99,369,289 (GRCm39) L529P probably damaging Het
Acer2 A T 4: 86,818,792 (GRCm39) N147Y probably damaging Het
Adamtsl1 A G 4: 86,150,901 (GRCm39) E353G probably damaging Het
Alg6 T C 4: 99,632,737 (GRCm39) F60L probably benign Het
Ano6 A T 15: 95,811,260 (GRCm39) D120V probably damaging Het
Armc3 A G 2: 19,258,728 (GRCm39) D265G possibly damaging Het
Aurkc A T 7: 7,005,859 (GRCm39) Y249F probably benign Het
Bmal1 G A 7: 112,884,238 (GRCm39) R92Q probably damaging Het
Cacna2d2 A G 9: 107,389,528 (GRCm39) I274V probably benign Het
Camk2n2 C A 16: 20,439,830 (GRCm39) G39C probably damaging Het
Ccdc39 A G 3: 33,880,710 (GRCm39) L419P possibly damaging Het
Cdh23 T C 10: 60,141,388 (GRCm39) M3117V probably damaging Het
Celsr3 A G 9: 108,704,357 (GRCm39) E280G probably benign Het
Cherp TGCTGGTGGTGGGG TG 8: 73,221,659 (GRCm39) probably benign Het
Clcn6 A G 4: 148,098,646 (GRCm39) V494A probably damaging Het
Col19a1 C T 1: 24,376,996 (GRCm39) G450S probably damaging Het
Crb2 T G 2: 37,683,666 (GRCm39) V1056G probably damaging Het
Crtac1 A G 19: 42,290,612 (GRCm39) F363S probably damaging Het
Dipk2a A T 9: 94,402,594 (GRCm39) V356E possibly damaging Het
Dnaaf2 T C 12: 69,243,715 (GRCm39) S449G probably benign Het
Dnah7b A T 1: 46,273,152 (GRCm39) I2427F probably damaging Het
Dnah8 T A 17: 30,937,981 (GRCm39) D1619E probably benign Het
Dock3 A T 9: 106,850,995 (GRCm39) S836T possibly damaging Het
Donson A T 16: 91,478,117 (GRCm39) probably null Het
Drc3 G A 11: 60,265,956 (GRCm39) R215H possibly damaging Het
Entpd2 T C 2: 25,289,504 (GRCm39) S329P possibly damaging Het
Eya2 T C 2: 165,603,857 (GRCm39) S332P probably damaging Het
Fam83f T A 15: 80,576,206 (GRCm39) Y286N probably damaging Het
Fat4 T C 3: 39,037,283 (GRCm39) V3645A probably benign Het
G2e3 T C 12: 51,419,287 (GRCm39) F668L possibly damaging Het
Gm14403 T A 2: 177,201,040 (GRCm39) C329S probably damaging Het
Hmcn1 G A 1: 150,684,448 (GRCm39) T374I probably benign Het
Hmcn1 A T 1: 150,634,225 (GRCm39) probably null Het
Hrnr T C 3: 93,230,436 (GRCm39) S225P unknown Het
Ifi202b C T 1: 173,798,918 (GRCm39) probably null Het
Il10ra A T 9: 45,167,368 (GRCm39) D394E possibly damaging Het
Itga2b A T 11: 102,356,735 (GRCm39) D275E probably benign Het
Jaml A T 9: 45,000,026 (GRCm39) D108V probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrrtm1 T C 6: 77,221,872 (GRCm39) V443A probably damaging Het
Mkln1 T A 6: 31,473,637 (GRCm39) S126R probably benign Het
Myo19 T C 11: 84,788,450 (GRCm39) I354T probably damaging Het
Nucb1 A T 7: 45,151,084 (GRCm39) L99Q probably damaging Het
Or4f59 A G 2: 111,873,128 (GRCm39) F83S probably damaging Het
Pask A G 1: 93,249,778 (GRCm39) S541P probably benign Het
Pdpr A T 8: 111,861,252 (GRCm39) I749F possibly damaging Het
Pgap6 T A 17: 26,339,425 (GRCm39) F580I probably damaging Het
Phyhipl T C 10: 70,395,399 (GRCm39) D269G possibly damaging Het
Pkdcc A G 17: 83,523,223 (GRCm39) D110G probably benign Het
Ppox A G 1: 171,107,570 (GRCm39) L115P probably damaging Het
Ppp1r12c A G 7: 4,500,281 (GRCm39) L94P probably damaging Het
Ppp6r2 T A 15: 89,143,276 (GRCm39) M141K probably benign Het
Prl3d1 A T 13: 27,283,995 (GRCm39) H188L probably benign Het
Psmb3 T A 11: 97,604,296 (GRCm39) probably benign Het
Pxdn T A 12: 30,032,333 (GRCm39) S150T probably benign Het
Ripor3 T C 2: 167,823,203 (GRCm39) T903A probably damaging Het
Rnase4 T C 14: 51,342,306 (GRCm39) L10S probably benign Het
Rnf224 T C 2: 25,126,012 (GRCm39) T114A probably benign Het
Rrp1b T A 17: 32,264,950 (GRCm39) Y60N probably damaging Het
Rsbn1l A T 5: 21,110,814 (GRCm39) V508E probably damaging Het
Rubcnl T C 14: 75,278,381 (GRCm39) probably null Het
Rxfp4 A G 3: 88,559,209 (GRCm39) probably benign Het
Sdccag8 A G 1: 176,653,797 (GRCm39) T85A probably benign Het
Slc46a1 A T 11: 78,357,975 (GRCm39) I343F possibly damaging Het
Ssh2 A G 11: 77,340,639 (GRCm39) D597G probably damaging Het
Syne2 T A 12: 76,044,239 (GRCm39) V3942E possibly damaging Het
Timd4 T C 11: 46,708,573 (GRCm39) S200P probably benign Het
Tmc5 G A 7: 118,265,834 (GRCm39) probably null Het
Trbv16 A G 6: 41,129,013 (GRCm39) T66A probably benign Het
Ttc3 A T 16: 94,240,183 (GRCm39) K1103* probably null Het
Ttc7b A G 12: 100,350,492 (GRCm39) V458A probably damaging Het
Ubxn10 A G 4: 138,448,134 (GRCm39) S181P probably benign Het
Vmn2r11 A G 5: 109,207,114 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,002,925 (GRCm39) N112Y probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zc3h10 T C 10: 128,380,670 (GRCm39) N229S probably benign Het
Zfp407 T C 18: 84,226,867 (GRCm39) *2247W probably null Het
Zfyve1 C A 12: 83,621,910 (GRCm39) V162L 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
R5696:Rp1l1 UTSW 14 64,267,195 (GRCm39) missense probably damaging 0.99
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'- TGCCCCAGAGCTTTAGAGATG -3'
(R):5'- ATCACGGGGACTTTCTTCTCTG -3'

Sequencing Primer
(F):5'- AGCTTTAGAGATGGAGGCACTTTAG -3'
(R):5'- TGCATGCAATACCCTGCTG -3'
Posted On 2016-11-21