Incidental Mutation 'R7241:Rptn'
ID 563183
Institutional Source Beutler Lab
Gene Symbol Rptn
Ensembl Gene ENSMUSG00000041984
Gene Name repetin
Synonyms
MMRRC Submission 045348-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7241 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 93301006-93306749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93303261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 198 (E198G)
Ref Sequence ENSEMBL: ENSMUSP00000044998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045912]
AlphaFold P97347
Predicted Effect probably benign
Transcript: ENSMUST00000045912
AA Change: E198G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: E198G

DomainStartEndE-ValueType
Pfam:S_100 4 46 3.2e-13 PFAM
Blast:EFh 53 81 5e-10 BLAST
low complexity region 189 204 N/A INTRINSIC
low complexity region 237 252 N/A INTRINSIC
Blast:CTD 318 461 1e-7 BLAST
low complexity region 1007 1041 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,184 (GRCm39) T612A probably damaging Het
Acacb G A 5: 114,383,161 (GRCm39) A2115T possibly damaging Het
Adam32 T C 8: 25,388,510 (GRCm39) K398R probably benign Het
Adam9 T A 8: 25,441,002 (GRCm39) I824F possibly damaging Het
Ahnak A G 19: 8,986,395 (GRCm39) I2560V possibly damaging Het
Ank3 G A 10: 69,542,644 (GRCm39) M1I probably null Het
Anks1b T G 10: 90,348,699 (GRCm39) I789S probably damaging Het
Ap2b1 T A 11: 83,241,931 (GRCm39) N641K probably benign Het
Arhgap33 A G 7: 30,228,146 (GRCm39) L412P probably damaging Het
Atp13a3 T A 16: 30,171,095 (GRCm39) M317L possibly damaging Het
B4galt5 A G 2: 167,148,617 (GRCm39) L167P probably damaging Het
Bace2 T C 16: 97,237,998 (GRCm39) I483T possibly damaging Het
C2cd3 A C 7: 100,056,257 (GRCm39) K177T Het
Ccr4 T C 9: 114,322,024 (GRCm39) T14A probably benign Het
Cep250 A T 2: 155,833,472 (GRCm39) H1799L probably benign Het
Cgnl1 T C 9: 71,632,052 (GRCm39) Q433R probably benign Het
Copb1 C T 7: 113,836,591 (GRCm39) V384M probably damaging Het
Cyp2c50 T A 19: 40,079,012 (GRCm39) N118K probably benign Het
Cyp4a32 A G 4: 115,459,499 (GRCm39) I78V probably benign Het
Cyth4 A G 15: 78,491,245 (GRCm39) K108R probably benign Het
Dnah1 T C 14: 30,986,896 (GRCm39) H3632R probably benign Het
Dnah3 T C 7: 119,542,856 (GRCm39) I540V probably benign Het
Dock4 A G 12: 40,844,859 (GRCm39) Y1174C probably damaging Het
Drd5 A G 5: 38,477,879 (GRCm39) T291A probably damaging Het
Eeig1 A G 2: 32,448,076 (GRCm39) R62G probably benign Het
Fbn1 T C 2: 125,148,415 (GRCm39) N2611S possibly damaging Het
Fcsk A G 8: 111,622,529 (GRCm39) I133T probably benign Het
Fhod3 A G 18: 25,193,409 (GRCm39) E640G probably damaging Het
Flvcr2 T A 12: 85,852,013 (GRCm39) D522E probably benign Het
Ganc T A 2: 120,272,010 (GRCm39) I556K probably damaging Het
Gjc2 T A 11: 59,067,960 (GRCm39) E174V unknown Het
Gzmd G A 14: 56,368,799 (GRCm39) R32C probably damaging Het
Hltf T A 3: 20,119,556 (GRCm39) H200Q probably benign Het
Ift88 A G 14: 57,717,454 (GRCm39) I559M probably damaging Het
Ighv1-62-1 C A 12: 115,350,322 (GRCm39) C115F probably damaging Het
Impdh2 A G 9: 108,440,636 (GRCm39) N279S possibly damaging Het
Itpr1 T C 6: 108,494,581 (GRCm39) probably null Het
Kansl1l T C 1: 66,840,787 (GRCm39) N171S possibly damaging Het
Kif14 T A 1: 136,396,491 (GRCm39) C266S probably benign Het
Kif19b A G 5: 140,447,943 (GRCm39) T137A probably damaging Het
Lrriq1 A C 10: 103,051,834 (GRCm39) V306G probably damaging Het
Mast4 G A 13: 103,470,508 (GRCm39) R65W possibly damaging Het
Mex3d T C 10: 80,223,091 (GRCm39) D55G Het
Mrps27 A T 13: 99,547,788 (GRCm39) K233* probably null Het
Myo1f A G 17: 33,798,902 (GRCm39) N189S probably damaging Het
Nbn A T 4: 15,991,190 (GRCm39) K729N probably benign Het
Or1e35 T C 11: 73,798,058 (GRCm39) S87G probably benign Het
Or8k35 C A 2: 86,424,498 (GRCm39) V225F possibly damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Plaat5 A G 19: 7,591,946 (GRCm39) T121A probably benign Het
Polr1e A C 4: 45,029,340 (GRCm39) H315P probably damaging Het
Pou6f2 A G 13: 18,299,874 (GRCm39) V595A Het
Prdm15 T C 16: 97,596,941 (GRCm39) D960G possibly damaging Het
Prkcz A T 4: 155,353,516 (GRCm39) M460K probably benign Het
Prkd2 G T 7: 16,591,730 (GRCm39) R587L probably benign Het
Prkn C A 17: 12,073,748 (GRCm39) N355K possibly damaging Het
Rabep1 C A 11: 70,830,815 (GRCm39) T829N probably damaging Het
Ryr2 A T 13: 11,680,799 (GRCm39) I3182N possibly damaging Het
Sectm1a T A 11: 120,960,708 (GRCm39) I36F possibly damaging Het
Sez6l T C 5: 112,621,346 (GRCm39) S243G probably benign Het
Spata31h1 T C 10: 82,122,876 (GRCm39) E3378G probably benign Het
Taf2 T A 15: 54,925,537 (GRCm39) H235L probably benign Het
Tbc1d7 T C 13: 43,306,493 (GRCm39) Q161R probably benign Het
Tfcp2 T C 15: 100,416,468 (GRCm39) T271A possibly damaging Het
Thrsp G T 7: 97,066,295 (GRCm39) T139K probably damaging Het
Timm10 T A 2: 84,660,333 (GRCm39) *91R probably null Het
Tlr11 T A 14: 50,599,598 (GRCm39) I528N possibly damaging Het
Tnnt2 T A 1: 135,779,444 (GRCm39) L278Q probably damaging Het
Toe1 A T 4: 116,664,715 (GRCm39) M1K probably null Het
Trpv5 G A 6: 41,652,242 (GRCm39) R148* probably null Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Ttn A G 2: 76,783,550 (GRCm39) V860A unknown Het
Txnip T C 3: 96,466,991 (GRCm39) Y222H probably damaging Het
Ubr4 G A 4: 139,170,725 (GRCm39) S1600N probably damaging Het
Uhrf1 T C 17: 56,622,193 (GRCm39) Y364H probably damaging Het
Unc5a A T 13: 55,138,833 (GRCm39) T71S probably damaging Het
Vmn1r123 A T 7: 20,896,537 (GRCm39) Y143F possibly damaging Het
Vmn1r180 T A 7: 23,651,891 (GRCm39) I18N probably damaging Het
Washc2 A G 6: 116,185,168 (GRCm39) M1V probably null Het
Zfp174 C A 16: 3,666,111 (GRCm39) H125Q probably benign Het
Zfpl1 T C 19: 6,131,943 (GRCm39) H227R possibly damaging Het
Other mutations in Rptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Rptn APN 3 93,304,489 (GRCm39) missense probably benign
IGL01070:Rptn APN 3 93,305,483 (GRCm39) missense possibly damaging 0.86
IGL01625:Rptn APN 3 93,305,201 (GRCm39) missense probably benign 0.18
IGL01678:Rptn APN 3 93,304,118 (GRCm39) missense probably benign 0.00
IGL01716:Rptn APN 3 93,304,017 (GRCm39) missense possibly damaging 0.53
IGL01767:Rptn APN 3 93,302,946 (GRCm39) missense probably benign 0.00
IGL01872:Rptn APN 3 93,304,154 (GRCm39) missense probably benign
IGL02000:Rptn APN 3 93,303,735 (GRCm39) missense probably benign 0.01
IGL02066:Rptn APN 3 93,304,436 (GRCm39) missense probably benign 0.01
IGL02090:Rptn APN 3 93,304,041 (GRCm39) missense possibly damaging 0.85
IGL02116:Rptn APN 3 93,302,404 (GRCm39) missense possibly damaging 0.88
IGL02216:Rptn APN 3 93,303,080 (GRCm39) missense possibly damaging 0.73
IGL02368:Rptn APN 3 93,304,478 (GRCm39) missense probably benign 0.18
IGL02820:Rptn APN 3 93,304,227 (GRCm39) missense probably benign 0.01
IGL03323:Rptn APN 3 93,304,460 (GRCm39) missense probably benign
IGL03404:Rptn APN 3 93,305,436 (GRCm39) missense possibly damaging 0.53
D3080:Rptn UTSW 3 93,303,135 (GRCm39) missense possibly damaging 0.85
H8786:Rptn UTSW 3 93,305,180 (GRCm39) missense possibly damaging 0.53
IGL03097:Rptn UTSW 3 93,304,680 (GRCm39) missense probably damaging 1.00
LCD18:Rptn UTSW 3 93,304,848 (GRCm39) missense probably benign
PIT4431001:Rptn UTSW 3 93,304,704 (GRCm39) small deletion probably benign
PIT4480001:Rptn UTSW 3 93,304,977 (GRCm39) missense possibly damaging 0.85
R1024:Rptn UTSW 3 93,305,532 (GRCm39) missense possibly damaging 0.72
R1119:Rptn UTSW 3 93,303,552 (GRCm39) missense possibly damaging 0.96
R1727:Rptn UTSW 3 93,304,445 (GRCm39) missense possibly damaging 0.73
R1901:Rptn UTSW 3 93,304,017 (GRCm39) missense possibly damaging 0.53
R2247:Rptn UTSW 3 93,304,136 (GRCm39) missense probably benign
R2921:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R2922:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R2923:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R3901:Rptn UTSW 3 93,305,664 (GRCm39) missense probably benign
R3936:Rptn UTSW 3 93,302,883 (GRCm39) missense possibly damaging 0.79
R4304:Rptn UTSW 3 93,304,238 (GRCm39) missense probably benign 0.33
R4491:Rptn UTSW 3 93,303,818 (GRCm39) nonsense probably null
R4654:Rptn UTSW 3 93,304,792 (GRCm39) missense possibly damaging 0.53
R4870:Rptn UTSW 3 93,303,776 (GRCm39) nonsense probably null
R5246:Rptn UTSW 3 93,305,036 (GRCm39) missense possibly damaging 0.53
R5246:Rptn UTSW 3 93,304,140 (GRCm39) missense probably damaging 0.98
R5544:Rptn UTSW 3 93,305,780 (GRCm39) missense possibly damaging 0.53
R5555:Rptn UTSW 3 93,304,008 (GRCm39) missense probably benign
R5896:Rptn UTSW 3 93,305,639 (GRCm39) nonsense probably null
R5956:Rptn UTSW 3 93,305,334 (GRCm39) missense possibly damaging 0.53
R6192:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6209:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6224:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6226:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6227:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6230:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6247:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6258:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6393:Rptn UTSW 3 93,304,506 (GRCm39) missense probably benign
R6513:Rptn UTSW 3 93,303,419 (GRCm39) missense possibly damaging 0.73
R6854:Rptn UTSW 3 93,305,430 (GRCm39) missense possibly damaging 0.53
R6855:Rptn UTSW 3 93,305,558 (GRCm39) missense probably benign 0.33
R6884:Rptn UTSW 3 93,303,096 (GRCm39) missense probably benign 0.33
R7018:Rptn UTSW 3 93,305,207 (GRCm39) missense possibly damaging 0.73
R7337:Rptn UTSW 3 93,304,212 (GRCm39) missense probably benign 0.03
R7754:Rptn UTSW 3 93,303,228 (GRCm39) missense probably damaging 0.98
R7794:Rptn UTSW 3 93,303,036 (GRCm39) missense probably benign
R7801:Rptn UTSW 3 93,305,531 (GRCm39) missense possibly damaging 0.53
R8161:Rptn UTSW 3 93,304,000 (GRCm39) small deletion probably benign
R8374:Rptn UTSW 3 93,303,602 (GRCm39) nonsense probably null
R8671:Rptn UTSW 3 93,305,501 (GRCm39) missense probably benign 0.18
R8804:Rptn UTSW 3 93,303,150 (GRCm39) missense probably damaging 0.98
R8934:Rptn UTSW 3 93,303,219 (GRCm39) missense probably benign 0.00
R8938:Rptn UTSW 3 93,302,332 (GRCm39) missense possibly damaging 0.93
R9056:Rptn UTSW 3 93,304,412 (GRCm39) missense probably benign 0.33
R9082:Rptn UTSW 3 93,302,928 (GRCm39) missense possibly damaging 0.94
R9140:Rptn UTSW 3 93,303,445 (GRCm39) nonsense probably null
R9310:Rptn UTSW 3 93,304,384 (GRCm39) missense probably benign 0.00
R9392:Rptn UTSW 3 93,305,721 (GRCm39) missense probably benign
R9403:Rptn UTSW 3 93,302,349 (GRCm39) missense probably benign 0.17
R9564:Rptn UTSW 3 93,304,536 (GRCm39) missense probably benign
R9748:Rptn UTSW 3 93,304,761 (GRCm39) missense possibly damaging 0.85
X0018:Rptn UTSW 3 93,303,248 (GRCm39) nonsense probably null
Z1088:Rptn UTSW 3 93,304,734 (GRCm39) missense probably benign 0.01
Z1176:Rptn UTSW 3 93,302,325 (GRCm39) missense probably benign 0.26
Z1177:Rptn UTSW 3 93,305,194 (GRCm39) missense possibly damaging 0.73
Z1177:Rptn UTSW 3 93,303,019 (GRCm39) missense probably benign 0.01
Z1177:Rptn UTSW 3 93,302,950 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCAGAAAGCACAGGCAGAC -3'
(R):5'- ATCTTCCAGACTGACCATGAC -3'

Sequencing Primer
(F):5'- AGGAGAACGCCGGAACTCTC -3'
(R):5'- AGACTGACCATGACTGCTTTG -3'
Posted On 2019-06-26