Incidental Mutation 'R5990:Kprp'
ID 481924
Institutional Source Beutler Lab
Gene Symbol Kprp
Ensembl Gene ENSMUSG00000059832
Gene Name keratinocyte expressed, proline-rich
Synonyms 1110001M24Rik
MMRRC Submission 044170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 92730381-92734554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92732081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 323 (E323G)
Ref Sequence ENSEMBL: ENSMUSP00000072200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072363]
AlphaFold B2RUR4
Predicted Effect probably damaging
Transcript: ENSMUST00000072363
AA Change: E323G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: E323G

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 177 199 N/A INTRINSIC
low complexity region 292 302 N/A INTRINSIC
low complexity region 325 338 N/A INTRINSIC
low complexity region 380 397 N/A INTRINSIC
low complexity region 446 502 N/A INTRINSIC
low complexity region 515 534 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A T 10: 76,285,123 (GRCm39) M11L probably benign Het
Acad10 A G 5: 121,783,468 (GRCm39) L319P probably damaging Het
Adam12 C A 7: 133,533,465 (GRCm39) C471F probably damaging Het
Arfgef1 A G 1: 10,243,146 (GRCm39) Y1065H probably damaging Het
Atp8b3 G A 10: 80,361,531 (GRCm39) T797M possibly damaging Het
Auts2 G A 5: 131,505,734 (GRCm39) probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Ccdc146 A G 5: 21,523,180 (GRCm39) S286P probably benign Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Cmtr1 T C 17: 29,921,135 (GRCm39) Y794H probably benign Het
Copb2 A G 9: 98,452,378 (GRCm39) E54G probably damaging Het
Ctsk A T 3: 95,408,767 (GRCm39) H77L probably damaging Het
Dnah3 T C 7: 119,672,764 (GRCm39) Y546C probably benign Het
Ephb2 A T 4: 136,423,366 (GRCm39) V304E probably benign Het
Ern1 C T 11: 106,302,595 (GRCm39) V420I probably benign Het
Esrrg A T 1: 187,930,995 (GRCm39) E339V probably damaging Het
Fbxo10 A C 4: 45,061,960 (GRCm39) F189V probably damaging Het
Foxl1 G T 8: 121,855,160 (GRCm39) A154S probably damaging Het
Frs3 A G 17: 48,012,602 (GRCm39) D103G possibly damaging Het
Gdpd4 A G 7: 97,690,137 (GRCm39) T610A probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm4847 C T 1: 166,470,942 (GRCm39) S36N probably benign Het
Grm8 G T 6: 27,363,623 (GRCm39) L631I probably damaging Het
Ints9 T A 14: 65,276,777 (GRCm39) L648Q probably damaging Het
Kansl1l T C 1: 66,774,885 (GRCm39) H647R probably damaging Het
Kcnq1 T A 7: 142,815,105 (GRCm39) H501Q probably damaging Het
Kctd20 T C 17: 29,185,884 (GRCm39) L409P probably benign Het
Kiss1r A G 10: 79,754,541 (GRCm39) T12A probably benign Het
Kndc1 T A 7: 139,507,333 (GRCm39) V1173E probably damaging Het
Krtap10-4 A T 10: 77,662,441 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,391,784 (GRCm39) Y1214H probably benign Het
Lysmd3 G A 13: 81,817,707 (GRCm39) G228D probably damaging Het
Muc16 G A 9: 18,570,539 (GRCm39) A660V unknown Het
Muc5b T C 7: 141,411,898 (GRCm39) C1615R unknown Het
Nans A T 4: 46,489,441 (GRCm39) N28I probably damaging Het
Nlrp4b C T 7: 10,448,418 (GRCm39) S207L possibly damaging Het
Nrdc T G 4: 108,876,268 (GRCm39) F355V probably damaging Het
Nrip2 C T 6: 128,376,979 (GRCm39) probably benign Het
Nufip1 C T 14: 76,351,628 (GRCm39) P161L probably damaging Het
Ogdhl C T 14: 32,049,071 (GRCm39) H114Y possibly damaging Het
Opa1 T A 16: 29,405,836 (GRCm39) W134R probably damaging Het
Or4k45 T A 2: 111,395,019 (GRCm39) I257F probably damaging Het
Or8a1b G T 9: 37,623,406 (GRCm39) H56Q probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Patl2 T C 2: 121,954,965 (GRCm39) D361G probably damaging Het
Pcx A G 19: 4,671,294 (GRCm39) D1172G probably damaging Het
Phax A G 18: 56,708,675 (GRCm39) T58A probably benign Het
Phf11b T A 14: 59,562,375 (GRCm39) I177L possibly damaging Het
Pole T A 5: 110,450,010 (GRCm39) V819D probably damaging Het
Poll T C 19: 45,541,594 (GRCm39) D458G possibly damaging Het
Polr2m G A 9: 71,386,602 (GRCm39) probably null Het
Ppp1r9a C A 6: 5,134,660 (GRCm39) H928N probably benign Het
Prdm2 T C 4: 142,896,683 (GRCm39) N102D probably damaging Het
Rbm45 A T 2: 76,200,756 (GRCm39) D95V probably benign Het
Rdh19 A G 10: 127,695,463 (GRCm39) M226V probably benign Het
Rev3l T G 10: 39,699,807 (GRCm39) S1435A probably benign Het
Rgs20 A G 1: 4,982,553 (GRCm39) I305T probably benign Het
Rhobtb2 T C 14: 70,033,818 (GRCm39) N469S probably damaging Het
Rif1 C G 2: 51,985,856 (GRCm39) L614V probably damaging Het
Rps6ka1 A G 4: 133,593,708 (GRCm39) I177T probably damaging Het
Samd12 T A 15: 53,583,019 (GRCm39) D105V probably damaging Het
Setd3 A T 12: 108,126,594 (GRCm39) D88E probably benign Het
Sfmbt2 G T 2: 10,584,192 (GRCm39) V850L possibly damaging Het
Slc26a10 C A 10: 127,014,627 (GRCm39) A195S possibly damaging Het
Smcp C A 3: 92,491,557 (GRCm39) A97S unknown Het
Stxbp5 G A 10: 9,711,677 (GRCm39) H248Y probably damaging Het
Syne2 T C 12: 76,070,918 (GRCm39) L4457P probably benign Het
Tbx3 A G 5: 119,818,594 (GRCm39) T390A probably benign Het
Tmeff2 G A 1: 51,018,601 (GRCm39) W194* probably null Het
Tmem120b G A 5: 123,242,544 (GRCm39) R174Q probably damaging Het
Trio A G 15: 27,891,545 (GRCm39) V402A probably benign Het
Ttll2 C A 17: 7,619,766 (GRCm39) G54W possibly damaging Het
Uba7 G A 9: 107,858,433 (GRCm39) V786M probably damaging Het
Vmn2r32 T C 7: 7,482,809 (GRCm39) E55G probably damaging Het
Wdr35 A G 12: 9,066,511 (GRCm39) D724G probably damaging Het
Xrcc1 G A 7: 24,267,293 (GRCm39) V381M probably damaging Het
Zdhhc11 T A 13: 74,127,303 (GRCm39) W227R probably benign Het
Zfp341 T C 2: 154,487,579 (GRCm39) S681P probably damaging Het
Zfp735 T A 11: 73,581,174 (GRCm39) D70E possibly damaging Het
Zmat4 G A 8: 24,419,279 (GRCm39) A104T probably damaging Het
Other mutations in Kprp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Kprp APN 3 92,731,734 (GRCm39) missense unknown
IGL01566:Kprp APN 3 92,731,271 (GRCm39) missense probably benign 0.11
R0062:Kprp UTSW 3 92,731,989 (GRCm39) missense probably damaging 1.00
R0062:Kprp UTSW 3 92,731,989 (GRCm39) missense probably damaging 1.00
R0244:Kprp UTSW 3 92,732,718 (GRCm39) missense probably benign 0.06
R0364:Kprp UTSW 3 92,731,642 (GRCm39) nonsense probably null
R0414:Kprp UTSW 3 92,733,020 (GRCm39) missense probably damaging 1.00
R0511:Kprp UTSW 3 92,732,030 (GRCm39) missense probably damaging 1.00
R0555:Kprp UTSW 3 92,731,664 (GRCm39) missense unknown
R0800:Kprp UTSW 3 92,732,342 (GRCm39) missense unknown
R1356:Kprp UTSW 3 92,732,909 (GRCm39) missense probably damaging 1.00
R1550:Kprp UTSW 3 92,732,033 (GRCm39) missense probably damaging 0.96
R1571:Kprp UTSW 3 92,732,689 (GRCm39) nonsense probably null
R1618:Kprp UTSW 3 92,732,783 (GRCm39) missense probably damaging 0.99
R2424:Kprp UTSW 3 92,732,912 (GRCm39) missense probably damaging 1.00
R2680:Kprp UTSW 3 92,731,770 (GRCm39) missense unknown
R3605:Kprp UTSW 3 92,731,588 (GRCm39) missense unknown
R3606:Kprp UTSW 3 92,731,588 (GRCm39) missense unknown
R3607:Kprp UTSW 3 92,731,588 (GRCm39) missense unknown
R3755:Kprp UTSW 3 92,732,346 (GRCm39) missense unknown
R4116:Kprp UTSW 3 92,731,275 (GRCm39) missense probably damaging 1.00
R4204:Kprp UTSW 3 92,732,046 (GRCm39) missense probably damaging 0.99
R4320:Kprp UTSW 3 92,732,163 (GRCm39) missense probably damaging 1.00
R4321:Kprp UTSW 3 92,732,163 (GRCm39) missense probably damaging 1.00
R4323:Kprp UTSW 3 92,732,163 (GRCm39) missense probably damaging 1.00
R4575:Kprp UTSW 3 92,731,271 (GRCm39) missense probably benign 0.11
R4864:Kprp UTSW 3 92,731,829 (GRCm39) missense unknown
R5133:Kprp UTSW 3 92,731,829 (GRCm39) missense unknown
R5583:Kprp UTSW 3 92,731,643 (GRCm39) missense unknown
R5902:Kprp UTSW 3 92,731,835 (GRCm39) missense unknown
R6198:Kprp UTSW 3 92,731,994 (GRCm39) missense probably damaging 1.00
R6633:Kprp UTSW 3 92,732,600 (GRCm39) missense probably damaging 1.00
R7025:Kprp UTSW 3 92,732,504 (GRCm39) missense probably benign 0.03
R7269:Kprp UTSW 3 92,731,178 (GRCm39) missense probably damaging 0.96
R7951:Kprp UTSW 3 92,731,637 (GRCm39) missense unknown
R8298:Kprp UTSW 3 92,732,607 (GRCm39) missense probably damaging 1.00
R9074:Kprp UTSW 3 92,732,226 (GRCm39) missense probably damaging 0.99
R9140:Kprp UTSW 3 92,732,458 (GRCm39) nonsense probably null
R9273:Kprp UTSW 3 92,733,000 (GRCm39) missense probably damaging 1.00
R9405:Kprp UTSW 3 92,731,560 (GRCm39) missense unknown
Z1088:Kprp UTSW 3 92,732,364 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-06-26