Incidental Mutation 'R4868:Krt75'
ID 376362
Institutional Source Beutler Lab
Gene Symbol Krt75
Ensembl Gene ENSMUSG00000022986
Gene Name keratin 75
Synonyms Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf
MMRRC Submission 042478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4868 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101471780-101482339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101476556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 403 (G403E)
Ref Sequence ENSEMBL: ENSMUSP00000036246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042957]
AlphaFold Q8BGZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000042957
AA Change: G403E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: G403E

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 146 1e-32 PFAM
Filament 149 462 1.68e-178 SMART
low complexity region 468 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196179
Meta Mutation Damage Score 0.5136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 99% (91/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,729 (GRCm39) *299W probably null Het
4933412E24Rik G A 15: 59,887,817 (GRCm39) L208F possibly damaging Het
Abca8b G A 11: 109,865,338 (GRCm39) A373V probably benign Het
Actn3 A T 19: 4,914,482 (GRCm39) W549R probably benign Het
Adamts4 C T 1: 171,080,000 (GRCm39) probably benign Het
Adcy4 T C 14: 56,011,179 (GRCm39) I615V probably benign Het
Akap1 A G 11: 88,735,379 (GRCm39) S428P possibly damaging Het
Akap13 A T 7: 75,393,252 (GRCm39) R2476W probably damaging Het
Alx3 A G 3: 107,507,943 (GRCm39) S151G possibly damaging Het
Aoah T A 13: 21,099,151 (GRCm39) Y243* probably null Het
Asap1 A G 15: 63,966,030 (GRCm39) V1025A probably benign Het
Atp8b1 A T 18: 64,684,937 (GRCm39) I728N probably damaging Het
Baz2b C A 2: 59,755,226 (GRCm39) V1001L possibly damaging Het
Bmpr2 T A 1: 59,909,615 (GRCm39) S1030T probably benign Het
Cacna2d3 A T 14: 28,678,743 (GRCm39) probably null Het
Casp3 A T 8: 47,087,314 (GRCm39) N87I probably benign Het
Ccdc171 T A 4: 83,612,569 (GRCm39) L995Q probably damaging Het
Ccdc80 T A 16: 44,924,776 (GRCm39) Y637N probably damaging Het
Ccr4 A G 9: 114,321,901 (GRCm39) F55L probably benign Het
Cmah T A 13: 24,648,247 (GRCm39) V494E probably damaging Het
Cnot6l A G 5: 96,230,882 (GRCm39) Y362H probably damaging Het
Coq6 T C 12: 84,417,726 (GRCm39) V222A probably damaging Het
Ctdspl2 C A 2: 121,823,879 (GRCm39) T240N possibly damaging Het
D430041D05Rik T C 2: 104,085,754 (GRCm39) T248A possibly damaging Het
Dctn6 A T 8: 34,559,230 (GRCm39) probably benign Het
Dhx34 T C 7: 15,933,727 (GRCm39) D955G probably benign Het
Dnaaf5 A G 5: 139,155,941 (GRCm39) M541V probably benign Het
Dnah17 A T 11: 117,999,038 (GRCm39) S912T probably benign Het
Dnah2 A T 11: 69,354,474 (GRCm39) V2248E probably damaging Het
Dysf T C 6: 84,156,675 (GRCm39) W1502R probably damaging Het
Dzip1 A T 14: 119,114,626 (GRCm39) V843E probably damaging Het
Esp23 G T 17: 39,384,915 (GRCm39) T27K probably benign Het
Esp3 A T 17: 40,944,420 (GRCm39) M21L possibly damaging Het
Fam43b T A 4: 138,123,108 (GRCm39) T71S probably benign Het
Fpgs G A 2: 32,582,673 (GRCm39) R63C probably damaging Het
H2-M11 G T 17: 36,859,811 (GRCm39) W268L probably damaging Het
Inpp5b T C 4: 124,645,203 (GRCm39) S210P probably damaging Het
Itsn1 T A 16: 91,582,205 (GRCm39) S51T probably damaging Het
Kctd2 G A 11: 115,320,205 (GRCm39) V246I probably damaging Het
Lamp3 T A 16: 19,520,040 (GRCm39) T48S probably benign Het
Lyzl4 C A 9: 121,412,075 (GRCm39) V114L probably damaging Het
Maml3 C A 3: 52,011,345 (GRCm39) E74* probably null Het
Map2k7 G A 8: 4,297,751 (GRCm39) probably benign Het
Mapk8ip3 A G 17: 25,120,389 (GRCm39) V883A probably benign Het
Mbtps1 C T 8: 120,235,667 (GRCm39) V1004I probably benign Het
Metap1 G T 3: 138,188,850 (GRCm39) H48Q probably damaging Het
Mical2 T A 7: 111,917,831 (GRCm39) V396E probably damaging Het
Mks1 T A 11: 87,744,549 (GRCm39) probably benign Het
Ndst1 T C 18: 60,828,548 (GRCm39) T669A probably benign Het
Obox3 T C 7: 15,361,235 (GRCm39) K10R probably damaging Het
Opn3 T C 1: 175,491,127 (GRCm39) Y302C probably damaging Het
Or4f62 T A 2: 111,986,916 (GRCm39) S207T probably damaging Het
Or6b6 C T 7: 106,570,974 (GRCm39) M192I probably benign Het
Or9g8 T G 2: 85,606,970 (GRCm39) V14G possibly damaging Het
Pdzph1 A T 17: 59,281,751 (GRCm39) V177D probably benign Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Pmpcb T A 5: 21,953,851 (GRCm39) Y366* probably null Het
Prr14l A T 5: 32,987,281 (GRCm39) M738K probably benign Het
Prx T C 7: 27,217,004 (GRCm39) S641P probably benign Het
Ptchd3 A G 11: 121,721,883 (GRCm39) Y252C possibly damaging Het
Reg3a A G 6: 78,358,883 (GRCm39) E27G probably damaging Het
Ripor2 A G 13: 24,878,124 (GRCm39) T300A possibly damaging Het
Sdf4 T A 4: 156,093,642 (GRCm39) S259T probably damaging Het
Sike1 A G 3: 102,904,730 (GRCm39) probably null Het
Sis T G 3: 72,850,881 (GRCm39) I606L probably benign Het
Slc30a9 T C 5: 67,482,026 (GRCm39) I94T probably benign Het
Slc5a4a T C 10: 76,014,065 (GRCm39) I424T probably damaging Het
Spx C T 6: 142,362,116 (GRCm39) R72* probably null Het
St7 C A 6: 17,819,265 (GRCm39) N56K probably damaging Het
Tcte2 C A 17: 13,948,270 (GRCm39) G3V probably damaging Het
Tent5b A G 4: 133,213,393 (GRCm39) probably null Het
Tgfb3 T C 12: 86,108,955 (GRCm39) D258G probably benign Het
Timeless G T 10: 128,083,230 (GRCm39) G659V probably benign Het
Tnn T C 1: 159,958,443 (GRCm39) R467G possibly damaging Het
Tor1b T C 2: 30,846,589 (GRCm39) probably null Het
Trank1 T A 9: 111,194,709 (GRCm39) L911Q probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ttyh3 A T 5: 140,615,221 (GRCm39) I389N probably damaging Het
Tut4 T C 4: 108,406,417 (GRCm39) probably benign Het
Ube3b T C 5: 114,536,488 (GRCm39) V216A probably benign Het
Vezf1 T A 11: 87,965,520 (GRCm39) V254E probably damaging Het
Vmn1r122 T C 7: 20,867,227 (GRCm39) E276G probably benign Het
Vmn1r167 T A 7: 23,204,161 (GRCm39) N285I probably benign Het
Vmn2r45 T A 7: 8,484,480 (GRCm39) I442F probably benign Het
Vwa8 C A 14: 79,420,522 (GRCm39) A1741E probably damaging Het
Wdr20 T A 12: 110,704,668 (GRCm39) V69E probably damaging Het
Xkr4 T G 1: 3,287,074 (GRCm39) Q372P probably damaging Het
Other mutations in Krt75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Krt75 APN 15 101,481,081 (GRCm39) missense probably benign
IGL01406:Krt75 APN 15 101,476,460 (GRCm39) missense probably damaging 1.00
IGL01783:Krt75 APN 15 101,473,364 (GRCm39) missense probably benign 0.01
IGL01911:Krt75 APN 15 101,476,537 (GRCm39) missense probably damaging 1.00
IGL01945:Krt75 APN 15 101,478,599 (GRCm39) missense possibly damaging 0.56
IGL02178:Krt75 APN 15 101,481,226 (GRCm39) missense probably benign 0.00
IGL02832:Krt75 APN 15 101,476,508 (GRCm39) missense probably benign 0.02
IGL03173:Krt75 APN 15 101,481,162 (GRCm39) missense probably damaging 1.00
IGL03276:Krt75 APN 15 101,476,811 (GRCm39) missense probably damaging 0.98
BB007:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
BB017:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
R0482:Krt75 UTSW 15 101,478,746 (GRCm39) missense probably benign 0.22
R0595:Krt75 UTSW 15 101,476,789 (GRCm39) missense probably damaging 1.00
R0626:Krt75 UTSW 15 101,482,025 (GRCm39) missense probably benign 0.05
R1495:Krt75 UTSW 15 101,482,308 (GRCm39) start gained probably benign
R1886:Krt75 UTSW 15 101,479,532 (GRCm39) missense probably damaging 0.97
R1906:Krt75 UTSW 15 101,481,801 (GRCm39) missense possibly damaging 0.66
R1907:Krt75 UTSW 15 101,481,801 (GRCm39) missense possibly damaging 0.66
R2055:Krt75 UTSW 15 101,481,196 (GRCm39) missense probably benign 0.08
R2504:Krt75 UTSW 15 101,476,466 (GRCm39) missense probably benign 0.27
R2930:Krt75 UTSW 15 101,476,466 (GRCm39) missense probably benign 0.27
R3788:Krt75 UTSW 15 101,481,956 (GRCm39) missense possibly damaging 0.94
R4494:Krt75 UTSW 15 101,480,136 (GRCm39) nonsense probably null
R4803:Krt75 UTSW 15 101,476,507 (GRCm39) missense probably benign 0.00
R4906:Krt75 UTSW 15 101,478,674 (GRCm39) missense probably damaging 1.00
R4969:Krt75 UTSW 15 101,482,248 (GRCm39) missense probably benign
R5069:Krt75 UTSW 15 101,474,673 (GRCm39) critical splice donor site probably null
R5446:Krt75 UTSW 15 101,479,502 (GRCm39) missense probably null 0.22
R6019:Krt75 UTSW 15 101,482,158 (GRCm39) missense probably benign 0.00
R6739:Krt75 UTSW 15 101,479,503 (GRCm39) missense probably benign 0.00
R6835:Krt75 UTSW 15 101,479,472 (GRCm39) missense probably benign 0.16
R7167:Krt75 UTSW 15 101,476,750 (GRCm39) missense possibly damaging 0.90
R7622:Krt75 UTSW 15 101,478,707 (GRCm39) missense probably damaging 1.00
R7930:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
R8046:Krt75 UTSW 15 101,481,199 (GRCm39) missense probably benign 0.01
R8943:Krt75 UTSW 15 101,476,767 (GRCm39) missense probably benign 0.03
R9360:Krt75 UTSW 15 101,476,729 (GRCm39) missense probably damaging 1.00
R9483:Krt75 UTSW 15 101,482,238 (GRCm39) missense probably benign 0.01
R9609:Krt75 UTSW 15 101,474,677 (GRCm39) missense probably benign 0.33
X0022:Krt75 UTSW 15 101,478,648 (GRCm39) missense possibly damaging 0.94
Z1088:Krt75 UTSW 15 101,482,100 (GRCm39) missense probably benign 0.00
Z1177:Krt75 UTSW 15 101,479,489 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGGCTGCTGAGGTAAGTTCTG -3'
(R):5'- TGCCGTCAAGAAGCAGGTAC -3'

Sequencing Primer
(F):5'- AGGTAAGTTCTGTTTGCTGTAAGAAC -3'
(R):5'- TCAAGAAGCAGGTACAGTAAGCAC -3'
Posted On 2016-03-17