Incidental Mutation 'R6192:Rptn'
ID 502627
Institutional Source Beutler Lab
Gene Symbol Rptn
Ensembl Gene ENSMUSG00000041984
Gene Name repetin
Synonyms
MMRRC Submission 044332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6192 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 93301006-93306749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 93305437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 923 (H923Q)
Ref Sequence ENSEMBL: ENSMUSP00000044998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045912]
AlphaFold P97347
Predicted Effect possibly damaging
Transcript: ENSMUST00000045912
AA Change: H923Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: H923Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195137
Meta Mutation Damage Score 0.0873 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
Allele List at MGI

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

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,774,002 (GRCm39) E1137G probably damaging Het
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dcaf7 T C 11: 105,942,584 (GRCm39) V177A probably damaging Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Gm5431 T A 11: 48,785,220 (GRCm39) D107V probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Mrps5 T A 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Patj G T 4: 98,344,394 (GRCm39) G569W probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign 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
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
R7241:Rptn UTSW 3 93,303,261 (GRCm39) missense probably benign 0.01
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'- AGGGCAAAACAGGCACTCTC -3'
(R):5'- CATGGGTTTGCCTATCACTTG -3'

Sequencing Primer
(F):5'- GCACTCTCTAGGGACTGATAGAAC -3'
(R):5'- GCCTATCACTTGTTTGATGGC -3'
Posted On 2018-02-27