Incidental Mutation 'R6513:Rptn'
ID 519988
Institutional Source Beutler Lab
Gene Symbol Rptn
Ensembl Gene ENSMUSG00000041984
Gene Name repetin
Synonyms
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 93301006-93306749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93303419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 251 (S251P)
Ref Sequence ENSEMBL: ENSMUSP00000044998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045912]
AlphaFold P97347
Predicted Effect possibly damaging
Transcript: ENSMUST00000045912
AA Change: S251P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: S251P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
Allele List at MGI

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

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cep72 A T 13: 74,206,582 (GRCm39) L73H probably damaging Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q 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
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
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'- CCCACTATGGCCATTCTGAGAG -3'
(R):5'- CTCTGTCTGCTCATGGTATGAAC -3'

Sequencing Primer
(F):5'- CTATGGCCATTCTGAGAGACAAGAC -3'
(R):5'- TGCTCATGGTATGAACTATGTCC -3'
Posted On 2018-06-06