Incidental Mutation 'R7269:Kprp'
ID 565127
Institutional Source Beutler Lab
Gene Symbol Kprp
Ensembl Gene ENSMUSG00000059832
Gene Name keratinocyte expressed, proline-rich
Synonyms 1110001M24Rik
MMRRC Submission 045320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7269 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 92730381-92734554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92731178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 624 (V624A)
Ref Sequence ENSEMBL: ENSMUSP00000072200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072363]
AlphaFold B2RUR4
Predicted Effect probably damaging
Transcript: ENSMUST00000072363
AA Change: V624A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: V624A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A T 18: 24,606,013 (GRCm39) N36I probably damaging Het
A430033K04Rik T A 5: 138,645,014 (GRCm39) Y300N possibly damaging Het
Adipor2 T C 6: 119,347,205 (GRCm39) Q26R probably benign Het
Ahnak T A 19: 8,983,981 (GRCm39) M1755K probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
AI837181 C A 19: 5,476,462 (GRCm39) S208R probably damaging Het
Arhgap35 T G 7: 16,295,652 (GRCm39) M1138L probably benign Het
Card14 T G 11: 119,228,573 (GRCm39) L633R probably damaging Het
Carmil3 A G 14: 55,731,352 (GRCm39) T144A probably benign Het
Cbfa2t2 T A 2: 154,357,895 (GRCm39) N223K probably benign Het
Ccdc39 T C 3: 33,884,254 (GRCm39) I363V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccpg1 G T 9: 72,920,609 (GRCm39) R741S probably benign Het
Cenpc1 A G 5: 86,161,366 (GRCm39) F855L probably damaging Het
Cenpc1 A T 5: 86,180,277 (GRCm39) M665K probably benign Het
Cp A G 3: 20,037,641 (GRCm39) H832R probably damaging Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dlc1 A C 8: 37,046,407 (GRCm39) L730R probably damaging Het
Dmbt1 A T 7: 130,668,351 (GRCm39) I536F unknown Het
Dscam G A 16: 96,479,601 (GRCm39) T1182I probably benign Het
Eea1 A T 10: 95,854,000 (GRCm39) I553F probably damaging Het
Far1 T C 7: 113,160,654 (GRCm39) V400A probably benign Het
Fbrsl1 A T 5: 110,580,880 (GRCm39) S126T probably benign Het
Frmpd2 A T 14: 33,244,838 (GRCm39) E552V possibly damaging Het
Gm5431 T A 11: 48,779,237 (GRCm39) T562S probably benign Het
Gm5475 T C 15: 100,324,890 (GRCm39) F106S unknown Het
Gpr12 T C 5: 146,520,188 (GRCm39) T245A probably damaging Het
Gsta2 A G 9: 78,239,419 (GRCm39) Y166H probably benign Het
H6pd A G 4: 150,067,369 (GRCm39) V347A probably benign Het
Ifih1 T C 2: 62,475,977 (GRCm39) T100A probably benign Het
Ift70b A G 2: 75,767,838 (GRCm39) F305S probably damaging Het
Itga2 C T 13: 115,023,225 (GRCm39) W59* probably null Het
Knstrn T A 2: 118,661,869 (GRCm39) probably null Het
Lmbrd2 A G 15: 9,194,771 (GRCm39) Y591C probably damaging Het
Map7d1 A G 4: 126,126,666 (GRCm39) V842A unknown Het
Mboat2 A T 12: 24,881,708 (GRCm39) T4S probably benign Het
Mcph1 T A 8: 18,657,288 (GRCm39) probably null Het
Mrtfb A T 16: 13,218,898 (GRCm39) M515L possibly damaging Het
Muc5b A G 7: 141,411,272 (GRCm39) D1406G unknown Het
Mylk G A 16: 34,605,381 (GRCm39) G3D probably damaging Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nemp1 G T 10: 127,531,345 (GRCm39) R361L probably damaging Het
Nol4 A C 18: 23,172,846 (GRCm39) V85G probably benign Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Obscn T C 11: 58,933,838 (GRCm39) E5342G probably damaging Het
Or10al7 C A 17: 38,366,442 (GRCm39) C5F probably damaging Het
Or4f47 T A 2: 111,972,905 (GRCm39) F205Y probably damaging Het
Or4p19 C T 2: 88,242,839 (GRCm39) M54I possibly damaging Het
Or51d1 T G 7: 102,348,252 (GRCm39) L269R probably damaging Het
Or7d10 A G 9: 19,831,631 (GRCm39) N42S possibly damaging Het
Pakap G T 4: 57,855,217 (GRCm39) R182L probably damaging Het
Pde4dip A G 3: 97,674,275 (GRCm39) S214P probably damaging Het
Per3 A T 4: 151,116,393 (GRCm39) C278* probably null Het
Pi4k2a T C 19: 42,079,125 (GRCm39) L62P probably damaging Het
Plekha7 C A 7: 115,780,447 (GRCm39) G126W probably damaging Het
Ppp1r13b T C 12: 111,801,353 (GRCm39) K567E probably damaging Het
Pradc1 T A 6: 85,424,548 (GRCm39) Q134L probably benign Het
Pwp2 A G 10: 78,012,170 (GRCm39) F628L probably benign Het
Rab5c C T 11: 100,606,928 (GRCm39) G217D probably benign Het
Rad51ap2 G T 12: 11,506,807 (GRCm39) S243I possibly damaging Het
Rasgrp4 C A 7: 28,847,855 (GRCm39) R432S probably damaging Het
Rhot2 C T 17: 26,061,402 (GRCm39) probably null Het
Scn2a T A 2: 65,594,113 (GRCm39) L1654Q probably damaging Het
Skint6 A T 4: 112,711,686 (GRCm39) probably null Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Slc25a24 G T 3: 109,065,960 (GRCm39) Q272H probably null Het
Slc3a1 A T 17: 85,339,873 (GRCm39) I144F probably damaging Het
Smg9 C T 7: 24,105,495 (GRCm39) R176C possibly damaging Het
Sorl1 A T 9: 41,948,499 (GRCm39) L762Q probably damaging Het
Srebf2 C A 15: 82,088,270 (GRCm39) P1079T probably benign Het
Sub1 A T 15: 11,993,937 (GRCm39) S4T probably benign Het
Tacr1 A T 6: 82,469,692 (GRCm39) Y192F probably benign Het
Tm4sf19 A T 16: 32,224,814 (GRCm39) H54L probably damaging Het
Tnxb T C 17: 34,914,428 (GRCm39) L1838P probably damaging Het
Trmt1l T C 1: 151,333,539 (GRCm39) S681P possibly damaging Het
Ttn A G 2: 76,738,176 (GRCm39) V4167A unknown Het
Unc13d T A 11: 115,959,056 (GRCm39) M702L probably benign Het
Vgll3 A G 16: 65,636,404 (GRCm39) H240R probably benign Het
Vmn1r189 C G 13: 22,286,737 (GRCm39) W33C probably benign Het
Vmn2r17 G A 5: 109,576,337 (GRCm39) A403T possibly damaging Het
Vmn2r2 G A 3: 64,033,998 (GRCm39) T508I probably benign Het
Vps54 T A 11: 21,227,670 (GRCm39) probably null Het
Wfs1 G A 5: 37,125,134 (GRCm39) Q586* probably null Het
Zbp1 A T 2: 173,055,665 (GRCm39) H166Q unknown Het
Zcchc3 G A 2: 152,256,294 (GRCm39) A135V probably benign Het
Zfp51 T C 17: 21,683,960 (GRCm39) Y192H probably benign Het
Zkscan2 T C 7: 123,088,994 (GRCm39) T426A probably benign 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
R5990:Kprp UTSW 3 92,732,081 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- TTGGATAACAACTTTGAAGCAGGG -3'
(R):5'- TTCCAGTCCAGAGCCTTGTG -3'

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