Incidental Mutation 'R7866:Rp1'
ID 607754
Institutional Source Beutler Lab
Gene Symbol Rp1
Ensembl Gene ENSMUSG00000025900
Gene Name retinitis pigmentosa 1 (human)
Synonyms Dcdc3, mG145, Orp1, oxygen-regulated protein 1, Rp1h
MMRRC Submission 045918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R7866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 3999557-4409241 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4347701 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1063 (V1063I)
Ref Sequence ENSEMBL: ENSMUSP00000027032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027032] [ENSMUST00000194992] [ENSMUST00000208660]
AlphaFold P56716
Predicted Effect probably benign
Transcript: ENSMUST00000027032
AA Change: V1063I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027032
Gene: ENSMUSG00000025900
AA Change: V1063I

DomainStartEndE-ValueType
DCX 30 117 4.37e-39 SMART
low complexity region 120 133 N/A INTRINSIC
DCX 152 236 7.17e-35 SMART
low complexity region 343 354 N/A INTRINSIC
low complexity region 403 414 N/A INTRINSIC
low complexity region 462 473 N/A INTRINSIC
low complexity region 646 661 N/A INTRINSIC
low complexity region 1113 1123 N/A INTRINSIC
low complexity region 1396 1412 N/A INTRINSIC
low complexity region 1434 1444 N/A INTRINSIC
low complexity region 1648 1661 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194992
SMART Domains Protein: ENSMUSP00000142146
Gene: ENSMUSG00000025900

DomainStartEndE-ValueType
DCX 40 127 4.37e-39 SMART
low complexity region 130 143 N/A INTRINSIC
DCX 162 246 7.17e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208660
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Two transcript variants encoding distinct isoforms are resulted from alternative promoters and alternative splicing. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene experience progressive degeneration in photoreceptors but are otherwise phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,098,295 (GRCm38) R194* probably null Het
Actl6a A G 3: 32,712,113 (GRCm38) T39A possibly damaging Het
Adamts6 T A 13: 104,413,749 (GRCm38) C624* probably null Het
Adgrl1 T C 8: 83,937,935 (GRCm38) probably null Het
Ap3m2 A G 8: 22,799,658 (GRCm38) V143A probably benign Het
Ap5m1 T C 14: 49,073,761 (GRCm38) V96A probably damaging Het
Aqp5 T A 15: 99,591,543 (GRCm38) V91E probably damaging Het
Atp6v0b A T 4: 117,885,153 (GRCm38) I181N probably damaging Het
Ccp110 T A 7: 118,723,018 (GRCm38) M632K probably benign Het
Cd44 A T 2: 102,842,259 (GRCm38) probably null Het
Cidea G A 18: 67,358,784 (GRCm38) R38Q probably damaging Het
Cnn3 T C 3: 121,451,393 (GRCm38) I86T probably benign Het
Col14a1 C A 15: 55,388,620 (GRCm38) D557E unknown Het
Col6a6 T C 9: 105,689,561 (GRCm38) Y2245C probably damaging Het
Dhrs4 A T 14: 55,487,635 (GRCm38) N196Y probably damaging Het
Dnah8 T C 17: 30,874,927 (GRCm38) V4665A possibly damaging Het
Dpep2 T C 8: 105,989,481 (GRCm38) T267A Het
Dtx3l T A 16: 35,938,750 (GRCm38) Q43L probably benign Het
Ednrb A G 14: 103,843,302 (GRCm38) S59P probably benign Het
Eml4 A G 17: 83,450,697 (GRCm38) T435A probably benign Het
Fam135b A T 15: 71,462,076 (GRCm38) F1090I probably benign Het
Filip1 A G 9: 79,818,943 (GRCm38) V798A probably benign Het
Fnip1 T G 11: 54,465,402 (GRCm38) probably benign Het
Gabrb2 C T 11: 42,487,223 (GRCm38) Q89* probably null Het
Gm960 T A 19: 4,698,486 (GRCm38) R61S unknown Het
Gtf2ird1 A T 5: 134,363,209 (GRCm38) V882E probably benign Het
Gucy1a2 T A 9: 3,532,804 (GRCm38) M1K probably null Het
Igkv10-96 T A 6: 68,632,041 (GRCm38) D90V possibly damaging Het
Igkv4-54 G A 6: 69,631,756 (GRCm38) R60C probably benign Het
Igkv7-33 G T 6: 70,058,863 (GRCm38) A45D probably damaging Het
Klk1b22 A T 7: 44,112,744 (GRCm38) I15F possibly damaging Het
Lamp3 T A 16: 19,699,740 (GRCm38) D249V probably benign Het
Lrrfip2 T C 9: 111,193,081 (GRCm38) V125A possibly damaging Het
Mprip G A 11: 59,752,930 (GRCm38) R638H possibly damaging Het
Muc5ac A G 7: 141,795,852 (GRCm38) M501V probably benign Het
Myo5a C T 9: 75,203,752 (GRCm38) P1509S probably damaging Het
Ngdn A G 14: 55,021,097 (GRCm38) Y63C probably damaging Het
Oit3 A G 10: 59,424,030 (GRCm38) V517A probably benign Het
Olfr935 A T 9: 38,994,731 (GRCm38) S235T not run Het
Pcdhb18 T A 18: 37,490,459 (GRCm38) F281I probably damaging Het
Pkd1 C A 17: 24,590,907 (GRCm38) Q3520K probably benign Het
Plxnb1 T A 9: 109,100,457 (GRCm38) I127N probably damaging Het
Ppfia2 A T 10: 106,819,529 (GRCm38) N319I probably damaging Het
Pxn T C 5: 115,548,606 (GRCm38) S386P possibly damaging Het
Ralgps2 C T 1: 156,887,168 (GRCm38) V104I probably benign Het
Slc10a5 A T 3: 10,334,472 (GRCm38) F376Y probably damaging Het
Snd1 T A 6: 28,527,725 (GRCm38) I277N probably damaging Het
Spc25 A G 2: 69,206,062 (GRCm38) probably null Het
Tex29 A G 8: 11,844,055 (GRCm38) N6D unknown Het
Ttc30b A G 2: 75,936,619 (GRCm38) S597P possibly damaging Het
Ttc6 G A 12: 57,674,649 (GRCm38) A975T probably damaging Het
Uba6 T C 5: 86,172,701 (GRCm38) E13G probably damaging Het
Ugcg T G 4: 59,211,927 (GRCm38) C98G possibly damaging Het
Ugt2b36 T A 5: 87,092,331 (GRCm38) D65V probably damaging Het
Unc93b1 A T 19: 3,935,243 (GRCm38) D17V not run Het
Usf1 G T 1: 171,417,894 (GRCm38) W291C unknown Het
Vps29 T C 5: 122,362,117 (GRCm38) W97R possibly damaging Het
Zbtb6 T C 2: 37,429,565 (GRCm38) E117G probably damaging Het
Zfp735 A C 11: 73,710,803 (GRCm38) D191A probably benign Het
Other mutations in Rp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Rp1 APN 1 4,346,746 (GRCm38) missense probably damaging 0.98
IGL00593:Rp1 APN 1 4,345,403 (GRCm38) missense possibly damaging 0.70
IGL00956:Rp1 APN 1 4,352,212 (GRCm38) missense probably damaging 1.00
IGL01070:Rp1 APN 1 4,345,238 (GRCm38) missense probably damaging 1.00
IGL01531:Rp1 APN 1 4,348,945 (GRCm38) missense probably benign 0.00
IGL01668:Rp1 APN 1 4,345,718 (GRCm38) missense probably damaging 1.00
IGL01907:Rp1 APN 1 4,348,507 (GRCm38) missense possibly damaging 0.56
IGL02055:Rp1 APN 1 4,352,522 (GRCm38) missense probably damaging 1.00
IGL02071:Rp1 APN 1 4,345,310 (GRCm38) missense possibly damaging 0.46
IGL02128:Rp1 APN 1 4,347,385 (GRCm38) missense probably damaging 0.99
IGL02244:Rp1 APN 1 4,348,780 (GRCm38) missense probably benign 0.00
IGL02381:Rp1 APN 1 4,352,390 (GRCm38) missense probably benign 0.01
IGL02499:Rp1 APN 1 4,349,048 (GRCm38) missense probably benign 0.17
IGL02619:Rp1 APN 1 4,348,450 (GRCm38) missense possibly damaging 0.73
IGL02832:Rp1 APN 1 4,349,713 (GRCm38) missense probably benign 0.03
IGL02861:Rp1 APN 1 4,346,152 (GRCm38) nonsense probably null
IGL03288:Rp1 APN 1 4,349,524 (GRCm38) missense possibly damaging 0.88
IGL03290:Rp1 APN 1 4,350,041 (GRCm38) missense probably damaging 1.00
IGL03303:Rp1 APN 1 4,344,817 (GRCm38) missense probably damaging 1.00
R0041:Rp1 UTSW 1 4,344,628 (GRCm38) missense probably benign 0.36
R0111:Rp1 UTSW 1 4,344,760 (GRCm38) missense probably damaging 1.00
R0363:Rp1 UTSW 1 4,347,718 (GRCm38) missense probably damaging 1.00
R0440:Rp1 UTSW 1 4,345,640 (GRCm38) missense probably damaging 1.00
R0442:Rp1 UTSW 1 4,346,747 (GRCm38) missense probably benign 0.09
R0528:Rp1 UTSW 1 4,344,865 (GRCm38) missense possibly damaging 0.82
R0586:Rp1 UTSW 1 4,347,837 (GRCm38) missense possibly damaging 0.76
R0639:Rp1 UTSW 1 4,346,498 (GRCm38) missense probably benign 0.00
R0856:Rp1 UTSW 1 4,344,655 (GRCm38) missense probably benign 0.05
R0908:Rp1 UTSW 1 4,344,655 (GRCm38) missense probably benign 0.05
R0968:Rp1 UTSW 1 4,345,352 (GRCm38) missense probably benign 0.00
R1099:Rp1 UTSW 1 4,352,290 (GRCm38) missense possibly damaging 0.45
R1242:Rp1 UTSW 1 4,344,962 (GRCm38) missense probably benign 0.03
R1301:Rp1 UTSW 1 4,345,936 (GRCm38) missense possibly damaging 0.56
R1327:Rp1 UTSW 1 4,347,970 (GRCm38) missense probably benign 0.01
R1403:Rp1 UTSW 1 4,346,297 (GRCm38) missense possibly damaging 0.73
R1403:Rp1 UTSW 1 4,346,297 (GRCm38) missense possibly damaging 0.73
R1406:Rp1 UTSW 1 4,351,921 (GRCm38) missense possibly damaging 0.88
R1406:Rp1 UTSW 1 4,351,921 (GRCm38) missense possibly damaging 0.88
R1440:Rp1 UTSW 1 4,347,396 (GRCm38) missense probably damaging 1.00
R1509:Rp1 UTSW 1 4,348,537 (GRCm38) missense probably benign 0.20
R1509:Rp1 UTSW 1 4,347,694 (GRCm38) missense probably damaging 0.98
R1538:Rp1 UTSW 1 4,345,676 (GRCm38) missense probably damaging 1.00
R1609:Rp1 UTSW 1 4,349,201 (GRCm38) missense probably damaging 1.00
R1666:Rp1 UTSW 1 4,349,863 (GRCm38) missense probably damaging 1.00
R1703:Rp1 UTSW 1 4,345,169 (GRCm38) missense probably damaging 1.00
R1782:Rp1 UTSW 1 4,349,089 (GRCm38) missense probably benign 0.00
R1799:Rp1 UTSW 1 4,348,832 (GRCm38) missense possibly damaging 0.94
R1848:Rp1 UTSW 1 4,347,232 (GRCm38) missense possibly damaging 0.76
R1908:Rp1 UTSW 1 4,348,720 (GRCm38) missense probably damaging 0.99
R1919:Rp1 UTSW 1 4,352,671 (GRCm38) missense probably damaging 0.99
R2087:Rp1 UTSW 1 4,348,352 (GRCm38) missense probably damaging 1.00
R2211:Rp1 UTSW 1 4,348,139 (GRCm38) missense probably damaging 0.96
R2278:Rp1 UTSW 1 4,348,027 (GRCm38) missense possibly damaging 0.51
R2287:Rp1 UTSW 1 4,345,959 (GRCm38) nonsense probably null
R2316:Rp1 UTSW 1 4,345,640 (GRCm38) missense probably damaging 1.00
R2346:Rp1 UTSW 1 4,348,013 (GRCm38) missense probably damaging 1.00
R2878:Rp1 UTSW 1 4,348,139 (GRCm38) missense probably damaging 1.00
R3023:Rp1 UTSW 1 4,352,675 (GRCm38) missense probably damaging 1.00
R3025:Rp1 UTSW 1 4,352,675 (GRCm38) missense probably damaging 1.00
R3716:Rp1 UTSW 1 4,349,765 (GRCm38) missense probably benign 0.38
R3814:Rp1 UTSW 1 4,349,708 (GRCm38) missense probably benign
R3929:Rp1 UTSW 1 4,352,645 (GRCm38) missense probably damaging 1.00
R4064:Rp1 UTSW 1 4,345,400 (GRCm38) missense probably benign 0.08
R4426:Rp1 UTSW 1 4,347,924 (GRCm38) missense probably benign 0.13
R4557:Rp1 UTSW 1 4,344,663 (GRCm38) missense possibly damaging 0.61
R4764:Rp1 UTSW 1 4,345,878 (GRCm38) missense probably damaging 0.96
R4845:Rp1 UTSW 1 4,349,228 (GRCm38) missense probably benign 0.02
R4850:Rp1 UTSW 1 4,348,675 (GRCm38) missense probably damaging 1.00
R4857:Rp1 UTSW 1 4,352,317 (GRCm38) missense probably damaging 1.00
R4857:Rp1 UTSW 1 4,352,316 (GRCm38) missense probably damaging 0.99
R5159:Rp1 UTSW 1 4,346,203 (GRCm38) missense possibly damaging 0.73
R5226:Rp1 UTSW 1 4,348,033 (GRCm38) missense probably benign 0.01
R5327:Rp1 UTSW 1 4,349,360 (GRCm38) splice site probably null
R5352:Rp1 UTSW 1 4,347,098 (GRCm38) missense probably benign 0.00
R5504:Rp1 UTSW 1 4,349,890 (GRCm38) missense probably damaging 1.00
R5527:Rp1 UTSW 1 4,346,393 (GRCm38) missense possibly damaging 0.75
R5529:Rp1 UTSW 1 4,345,832 (GRCm38) missense probably benign 0.42
R5569:Rp1 UTSW 1 4,345,237 (GRCm38) missense probably damaging 1.00
R5622:Rp1 UTSW 1 4,347,837 (GRCm38) missense possibly damaging 0.76
R5970:Rp1 UTSW 1 4,348,462 (GRCm38) missense probably benign 0.05
R5992:Rp1 UTSW 1 4,148,703 (GRCm38) missense unknown
R6004:Rp1 UTSW 1 4,197,585 (GRCm38) missense unknown
R6018:Rp1 UTSW 1 4,352,836 (GRCm38) missense possibly damaging 0.83
R6074:Rp1 UTSW 1 4,345,379 (GRCm38) missense probably benign 0.02
R6127:Rp1 UTSW 1 4,349,311 (GRCm38) missense possibly damaging 0.80
R6187:Rp1 UTSW 1 4,349,869 (GRCm38) missense probably damaging 1.00
R6301:Rp1 UTSW 1 4,347,254 (GRCm38) missense probably benign 0.04
R6317:Rp1 UTSW 1 4,041,989 (GRCm38) missense unknown
R6405:Rp1 UTSW 1 4,345,771 (GRCm38) missense probably damaging 1.00
R6445:Rp1 UTSW 1 4,226,617 (GRCm38) missense unknown
R6466:Rp1 UTSW 1 4,347,886 (GRCm38) missense probably benign 0.01
R6501:Rp1 UTSW 1 4,311,280 (GRCm38) intron probably benign
R6547:Rp1 UTSW 1 4,170,305 (GRCm38) missense unknown
R6604:Rp1 UTSW 1 4,019,128 (GRCm38) missense unknown
R6700:Rp1 UTSW 1 4,349,896 (GRCm38) missense probably damaging 1.00
R6706:Rp1 UTSW 1 4,142,664 (GRCm38) missense unknown
R6831:Rp1 UTSW 1 4,349,864 (GRCm38) splice site probably null
R6918:Rp1 UTSW 1 3,999,608 (GRCm38) missense unknown
R6973:Rp1 UTSW 1 4,351,994 (GRCm38) nonsense probably null
R6981:Rp1 UTSW 1 4,345,655 (GRCm38) missense probably benign 0.06
R7009:Rp1 UTSW 1 4,042,068 (GRCm38) missense unknown
R7078:Rp1 UTSW 1 4,206,791 (GRCm38) missense unknown
R7112:Rp1 UTSW 1 4,349,018 (GRCm38) missense probably benign 0.43
R7135:Rp1 UTSW 1 4,348,168 (GRCm38) missense possibly damaging 0.83
R7165:Rp1 UTSW 1 4,349,917 (GRCm38) missense probably damaging 0.99
R7199:Rp1 UTSW 1 4,347,290 (GRCm38) missense possibly damaging 0.73
R7232:Rp1 UTSW 1 4,228,601 (GRCm38) missense unknown
R7367:Rp1 UTSW 1 4,347,998 (GRCm38) missense probably benign 0.42
R7484:Rp1 UTSW 1 4,345,481 (GRCm38) missense probably benign 0.10
R7500:Rp1 UTSW 1 4,311,278 (GRCm38) missense unknown
R7569:Rp1 UTSW 1 4,284,840 (GRCm38) missense unknown
R7642:Rp1 UTSW 1 4,147,831 (GRCm38) missense unknown
R7693:Rp1 UTSW 1 4,347,403 (GRCm38) missense probably damaging 1.00
R7742:Rp1 UTSW 1 4,170,234 (GRCm38) missense unknown
R7759:Rp1 UTSW 1 4,344,884 (GRCm38) missense probably benign
R7784:Rp1 UTSW 1 4,142,658 (GRCm38) missense unknown
R7816:Rp1 UTSW 1 4,347,703 (GRCm38) missense probably damaging 0.98
R8215:Rp1 UTSW 1 4,245,095 (GRCm38) missense unknown
R8281:Rp1 UTSW 1 4,347,916 (GRCm38) missense probably damaging 1.00
R8294:Rp1 UTSW 1 4,345,997 (GRCm38) missense probably benign 0.09
R8309:Rp1 UTSW 1 4,347,089 (GRCm38) missense probably benign 0.00
R8311:Rp1 UTSW 1 4,348,349 (GRCm38) missense probably benign 0.11
R8500:Rp1 UTSW 1 4,346,590 (GRCm38) missense possibly damaging 0.91
R8559:Rp1 UTSW 1 4,349,561 (GRCm38) missense probably damaging 1.00
R8672:Rp1 UTSW 1 4,348,784 (GRCm38) missense possibly damaging 0.55
R8688:Rp1 UTSW 1 4,346,405 (GRCm38) missense probably benign 0.01
R8792:Rp1 UTSW 1 4,024,868 (GRCm38) missense unknown
R8859:Rp1 UTSW 1 4,349,960 (GRCm38) missense probably benign 0.07
R8945:Rp1 UTSW 1 4,349,594 (GRCm38) missense probably benign 0.42
R8959:Rp1 UTSW 1 4,349,427 (GRCm38) intron probably benign
R8979:Rp1 UTSW 1 4,148,714 (GRCm38) missense unknown
R9126:Rp1 UTSW 1 4,346,913 (GRCm38) missense probably damaging 0.99
R9156:Rp1 UTSW 1 4,163,938 (GRCm38) missense unknown
R9160:Rp1 UTSW 1 4,346,497 (GRCm38) missense probably benign 0.00
R9221:Rp1 UTSW 1 4,245,043 (GRCm38) missense unknown
R9263:Rp1 UTSW 1 4,348,937 (GRCm38) missense probably benign 0.02
R9263:Rp1 UTSW 1 4,348,452 (GRCm38) missense probably benign 0.25
R9302:Rp1 UTSW 1 4,346,566 (GRCm38) missense probably damaging 1.00
R9318:Rp1 UTSW 1 4,348,265 (GRCm38) missense probably benign 0.09
R9414:Rp1 UTSW 1 4,243,618 (GRCm38) missense unknown
R9474:Rp1 UTSW 1 4,092,615 (GRCm38) critical splice donor site probably null
R9478:Rp1 UTSW 1 4,347,322 (GRCm38) missense probably benign 0.06
R9529:Rp1 UTSW 1 4,346,224 (GRCm38) missense probably benign
R9572:Rp1 UTSW 1 4,348,439 (GRCm38) missense probably benign
R9673:Rp1 UTSW 1 4,267,569 (GRCm38) missense unknown
R9709:Rp1 UTSW 1 4,042,032 (GRCm38) missense unknown
R9716:Rp1 UTSW 1 4,142,610 (GRCm38) critical splice donor site probably null
RF003:Rp1 UTSW 1 4,344,694 (GRCm38) missense probably damaging 0.99
V1662:Rp1 UTSW 1 4,349,560 (GRCm38) missense probably damaging 1.00
X0012:Rp1 UTSW 1 4,347,695 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTTTAGTACCAAAAGCCAAGCC -3'
(R):5'- ATCACTGTGAGAGCCAGAATGG -3'

Sequencing Primer
(F):5'- CCAAGCCAGAAGGAGATTTGTG -3'
(R):5'- CCAGAATGGGTCTCTGTATGATTC -3'
Posted On 2019-12-20