Incidental Mutation 'R5032:Krt7'
ID 391781
Institutional Source Beutler Lab
Gene Symbol Krt7
Ensembl Gene ENSMUSG00000023039
Gene Name keratin 7
Synonyms K7, D15Wsu77e, Krt2-7, Cytokeratin 7
MMRRC Submission 042623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5032 (G1)
Quality Score 172
Status Validated
Chromosome 15
Chromosomal Location 101310284-101325687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101310428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 25 (R25H)
Ref Sequence ENSEMBL: ENSMUSP00000069900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068904] [ENSMUST00000147662]
AlphaFold Q9DCV7
Predicted Effect probably benign
Transcript: ENSMUST00000068904
AA Change: R25H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: R25H

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Pfam:Keratin_2_head 43 81 3.2e-12 PFAM
Filament 84 396 1.95e-174 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141190
Predicted Effect probably benign
Transcript: ENSMUST00000147662
SMART Domains Protein: ENSMUSP00000117046
Gene: ENSMUSG00000023039

DomainStartEndE-ValueType
Pfam:Filament 1 115 4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231016
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency 97% (77/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation of urothelial cells without histological evidence of hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Actl9 A G 17: 33,653,062 (GRCm39) N374S probably benign Het
Adam34l T C 8: 44,079,508 (GRCm39) N239D probably damaging Het
Ahcyl2 T A 6: 29,768,555 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,720,464 (GRCm39) M1501T probably benign Het
Asb17 A T 3: 153,550,175 (GRCm39) D69V probably damaging Het
Atp13a5 T C 16: 29,082,202 (GRCm39) Y877C probably damaging Het
Atrip T C 9: 108,894,271 (GRCm39) Q64R probably benign Het
Auts2 A G 5: 131,505,730 (GRCm39) probably benign Het
Cacna2d1 G T 5: 16,564,068 (GRCm39) R893L probably damaging Het
Ccdc138 C T 10: 58,409,458 (GRCm39) R596C probably damaging Het
Cd163 A G 6: 124,288,628 (GRCm39) Y353C probably damaging Het
Cdon T C 9: 35,400,330 (GRCm39) Y1015H probably damaging Het
Chsy3 T C 18: 59,312,543 (GRCm39) Y339H probably damaging Het
Cspp1 T C 1: 10,136,744 (GRCm39) W190R probably benign Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Duox1 G A 2: 122,167,798 (GRCm39) R1027H probably benign Het
Dync1h1 C T 12: 110,593,326 (GRCm39) Q1198* probably null Het
Ecel1 G A 1: 87,081,975 (GRCm39) S246L probably damaging Het
Fam228b T G 12: 4,813,042 (GRCm39) R109S probably damaging Het
Fut9 T A 4: 25,799,245 (GRCm39) probably benign Het
Gm5592 A G 7: 40,939,159 (GRCm39) R814G probably damaging Het
Gmps A G 3: 63,897,746 (GRCm39) K233E probably benign Het
Gramd1c A G 16: 43,811,026 (GRCm39) Y438H probably damaging Het
Gsdmc A T 15: 63,673,882 (GRCm39) D134E possibly damaging Het
Gxylt2 A G 6: 100,760,142 (GRCm39) I226V probably benign Het
Hc T C 2: 34,903,544 (GRCm39) I1037V probably benign Het
Hspa4 T G 11: 53,179,950 (GRCm39) R69S possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Kifc3 A G 8: 95,829,354 (GRCm39) S508P probably damaging Het
Lhfpl6 T A 3: 52,950,854 (GRCm39) S43T possibly damaging Het
Lrrc7 T A 3: 157,887,217 (GRCm39) K394N possibly damaging Het
Lypd4 A T 7: 24,566,240 (GRCm39) L28Q probably damaging Het
Mdc1 A G 17: 36,161,481 (GRCm39) E798G probably benign Het
Mta1 T A 12: 113,097,145 (GRCm39) probably null Het
Mtg2 A T 2: 179,725,183 (GRCm39) Q132L possibly damaging Het
Myh1 G T 11: 67,096,874 (GRCm39) E382* probably null Het
Myo3a T C 2: 22,287,413 (GRCm39) L175P probably damaging Het
Nckap5 A T 1: 125,904,786 (GRCm39) F144L possibly damaging Het
Nfrkb T A 9: 31,300,351 (GRCm39) probably null Het
Nmt2 C T 2: 3,285,429 (GRCm39) P5L probably benign Het
Nsmf T C 2: 24,945,073 (GRCm39) probably null Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or5a1 T A 19: 12,097,420 (GRCm39) I219F probably benign Het
Pcdhgc3 T A 18: 37,940,638 (GRCm39) N346K probably damaging Het
Pcnt G A 10: 76,190,911 (GRCm39) P2791S probably benign Het
Pdia3 A G 2: 121,244,620 (GRCm39) N11S probably benign Het
Pik3c2g A T 6: 139,841,928 (GRCm39) T778S probably benign Het
Pik3ip1 T A 11: 3,283,520 (GRCm39) I75N probably damaging Het
Pla2g4d A T 2: 120,112,176 (GRCm39) Y118* probably null Het
Ppargc1b A G 18: 61,440,336 (GRCm39) S845P probably damaging Het
Prdm2 A T 4: 142,905,937 (GRCm39) L50* probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,053,140 (GRCm39) V926I probably benign Het
Rab11fip2 A T 19: 59,925,799 (GRCm39) N139K probably damaging Het
Rcn2 T A 9: 55,960,300 (GRCm39) M189K probably damaging Het
Rev1 A T 1: 38,113,570 (GRCm39) probably benign Het
Rhbg C A 3: 88,152,441 (GRCm39) G368C probably damaging Het
Rnf214 A G 9: 45,811,042 (GRCm39) probably null Het
Sf3a3 T C 4: 124,618,959 (GRCm39) S307P probably benign Het
Slc6a18 T A 13: 73,814,442 (GRCm39) Y494F probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag16 T G 1: 69,892,511 (GRCm39) N97K probably benign Het
Tmem192 T C 8: 65,412,163 (GRCm39) V114A possibly damaging Het
Urb1 G T 16: 90,553,059 (GRCm39) P1901T probably benign Het
Vwa5b2 A G 16: 20,419,459 (GRCm39) T601A probably damaging Het
Wdtc1 G T 4: 133,036,162 (GRCm39) T126K possibly damaging Het
Xirp2 T C 2: 67,356,014 (GRCm39) Y3592H possibly damaging Het
Xylt2 A T 11: 94,560,842 (GRCm39) V232E probably damaging Het
Other mutations in Krt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Krt7 APN 15 101,324,966 (GRCm39) unclassified probably benign
IGL01025:Krt7 APN 15 101,321,302 (GRCm39) missense probably benign 0.17
IGL02229:Krt7 APN 15 101,325,497 (GRCm39) missense probably benign 0.09
IGL03366:Krt7 APN 15 101,325,491 (GRCm39) missense possibly damaging 0.87
R0256:Krt7 UTSW 15 101,321,190 (GRCm39) nonsense probably null
R1648:Krt7 UTSW 15 101,310,448 (GRCm39) missense probably damaging 1.00
R1696:Krt7 UTSW 15 101,321,307 (GRCm39) missense probably benign 0.01
R1779:Krt7 UTSW 15 101,321,290 (GRCm39) missense probably damaging 1.00
R1837:Krt7 UTSW 15 101,317,463 (GRCm39) missense probably benign 0.42
R2045:Krt7 UTSW 15 101,321,365 (GRCm39) splice site probably null
R2510:Krt7 UTSW 15 101,310,538 (GRCm39) missense probably benign 0.01
R2511:Krt7 UTSW 15 101,310,538 (GRCm39) missense probably benign 0.01
R4041:Krt7 UTSW 15 101,321,161 (GRCm39) splice site probably null
R4729:Krt7 UTSW 15 101,318,439 (GRCm39) missense probably benign 0.03
R4964:Krt7 UTSW 15 101,311,853 (GRCm39) missense probably damaging 1.00
R6023:Krt7 UTSW 15 101,310,278 (GRCm39) intron probably benign
R6270:Krt7 UTSW 15 101,317,439 (GRCm39) missense probably damaging 1.00
R7019:Krt7 UTSW 15 101,311,851 (GRCm39) missense probably damaging 1.00
R7645:Krt7 UTSW 15 101,310,524 (GRCm39) missense probably damaging 1.00
R7773:Krt7 UTSW 15 101,311,913 (GRCm39) missense possibly damaging 0.49
R7844:Krt7 UTSW 15 101,310,515 (GRCm39) missense possibly damaging 0.80
R9473:Krt7 UTSW 15 101,318,409 (GRCm39) missense probably damaging 0.99
X0026:Krt7 UTSW 15 101,310,653 (GRCm39) missense probably damaging 0.98
Z1177:Krt7 UTSW 15 101,321,348 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAACTTGCCTGAGGTGTGG -3'
(R):5'- CACCTTGTCGATGAAGGAGG -3'

Sequencing Primer
(F):5'- ACTTCCCGAGTGGACGAAG -3'
(R):5'- AGGGTCTTGATCTGCTCGC -3'
Posted On 2016-06-06