Incidental Mutation 'IGL02017:Krt2'
ID 183790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt2
Ensembl Gene ENSMUSG00000064201
Gene Name keratin 2
Synonyms Krt2-17, Krt2-2, Krt2e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02017
Quality Score
Status
Chromosome 15
Chromosomal Location 101810689-101818169 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101816504 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 224 (N224D)
Ref Sequence ENSEMBL: ENSMUSP00000023712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023712]
AlphaFold Q3TTY5
Predicted Effect probably damaging
Transcript: ENSMUST00000023712
AA Change: N224D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: N224D

DomainStartEndE-ValueType
Pfam:Keratin_2_head 23 195 3.6e-26 PFAM
Filament 198 511 4.22e-152 SMART
low complexity region 520 533 N/A INTRINSIC
low complexity region 538 701 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: ENU-induced mutant mice exhibit scaly skin and increased pigmentation in the tail, ears and feet. Mice homozygous for a knock-out allele show scaly skin, acanthosis, hyperkeratosis, increased water loss, ear skin inflammation, and aberrant aggregation of keratin 10 in suprabasal epidermal keratinocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,781,759 I544N probably benign Het
Ago2 T C 15: 73,126,517 T271A probably benign Het
Aox3 A C 1: 58,120,992 K111N probably damaging Het
Arhgap39 G A 15: 76,737,037 R455C probably damaging Het
Brcc3 A G X: 75,422,783 D67G possibly damaging Het
Crot T G 5: 8,970,046 probably benign Het
Dusp5 A G 19: 53,537,506 H193R probably damaging Het
Ect2 G A 3: 27,122,044 R644* probably null Het
Epn3 A G 11: 94,495,026 S190P probably benign Het
Fam3c A G 6: 22,343,277 M1T probably null Het
Fam69c A T 18: 84,736,825 D142V probably damaging Het
Kif4 A G X: 100,638,354 N197S probably benign Het
Lama1 A G 17: 67,764,725 H869R probably benign Het
Lrrc14 G T 15: 76,713,742 R224L probably damaging Het
Macf1 T C 4: 123,499,931 D864G probably damaging Het
Map3k11 C T 19: 5,697,623 S603F possibly damaging Het
Mxra7 A G 11: 116,811,921 probably null Het
Myo5b C A 18: 74,716,999 D1139E probably damaging Het
Nek9 T C 12: 85,329,923 Y228C probably damaging Het
Nxph1 T C 6: 9,247,743 I238T probably damaging Het
Olfr1502 T A 19: 13,862,231 V146E possibly damaging Het
Olfr199 A G 16: 59,215,947 L222P probably damaging Het
Olfr458 T C 6: 42,460,824 H65R probably benign Het
Pdpn A G 4: 143,270,570 probably benign Het
Plbd2 T C 5: 120,488,558 T329A probably damaging Het
Ptpn6 T C 6: 124,732,486 D8G probably damaging Het
Rad54l2 T C 9: 106,754,040 D16G possibly damaging Het
Slc43a3 A G 2: 84,938,241 E68G probably damaging Het
Snph G A 2: 151,600,982 R16C probably damaging Het
Ttn G A 2: 76,725,216 R28736* probably null Het
Vmn1r18 G A 6: 57,389,756 A271V probably benign Het
Other mutations in Krt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Krt2 APN 15 101811211 missense probably benign 0.23
IGL01568:Krt2 APN 15 101813211 missense probably damaging 1.00
IGL01586:Krt2 APN 15 101811390 missense unknown
IGL01667:Krt2 APN 15 101816330 missense possibly damaging 0.85
IGL02022:Krt2 APN 15 101816518 missense probably damaging 1.00
IGL02538:Krt2 APN 15 101811154 missense unknown
IGL02959:Krt2 APN 15 101811328 missense unknown
IGL03295:Krt2 APN 15 101816429 missense probably damaging 0.99
R0195:Krt2 UTSW 15 101813191 nonsense probably null
R0472:Krt2 UTSW 15 101813253 missense probably damaging 1.00
R0749:Krt2 UTSW 15 101817663 missense unknown
R0785:Krt2 UTSW 15 101817921 missense unknown
R0792:Krt2 UTSW 15 101816497 missense probably damaging 1.00
R1232:Krt2 UTSW 15 101811784 missense probably damaging 1.00
R1281:Krt2 UTSW 15 101813292 missense probably damaging 1.00
R1770:Krt2 UTSW 15 101811154 missense unknown
R1783:Krt2 UTSW 15 101813973 missense probably damaging 1.00
R1795:Krt2 UTSW 15 101816426 missense possibly damaging 0.85
R2283:Krt2 UTSW 15 101814387 missense probably damaging 1.00
R3977:Krt2 UTSW 15 101811127 missense unknown
R4575:Krt2 UTSW 15 101814486 missense probably damaging 1.00
R4619:Krt2 UTSW 15 101817591 missense probably damaging 1.00
R4620:Krt2 UTSW 15 101817591 missense probably damaging 1.00
R4766:Krt2 UTSW 15 101813960 missense probably damaging 1.00
R4819:Krt2 UTSW 15 101811544 missense unknown
R4953:Krt2 UTSW 15 101813942 missense probably damaging 1.00
R5108:Krt2 UTSW 15 101813286 missense possibly damaging 0.88
R5973:Krt2 UTSW 15 101816312 missense probably damaging 0.99
R6122:Krt2 UTSW 15 101815914 missense probably damaging 1.00
R6180:Krt2 UTSW 15 101815044 missense probably benign 0.05
R6661:Krt2 UTSW 15 101815963 missense probably damaging 1.00
R6974:Krt2 UTSW 15 101817879 missense unknown
R6993:Krt2 UTSW 15 101815960 missense probably damaging 1.00
R7104:Krt2 UTSW 15 101815087 missense probably benign 0.09
R7573:Krt2 UTSW 15 101814519 missense probably benign 0.05
R7947:Krt2 UTSW 15 101816334 missense probably damaging 1.00
R8469:Krt2 UTSW 15 101816369 missense probably benign 0.22
R8805:Krt2 UTSW 15 101815944 missense possibly damaging 0.93
R9051:Krt2 UTSW 15 101817882 missense unknown
R9118:Krt2 UTSW 15 101814541 missense probably damaging 0.99
R9230:Krt2 UTSW 15 101817513 missense probably benign 0.39
R9257:Krt2 UTSW 15 101816491 missense probably benign 0.05
R9424:Krt2 UTSW 15 101811357 missense unknown
R9569:Krt2 UTSW 15 101816489 missense probably damaging 1.00
R9576:Krt2 UTSW 15 101811357 missense unknown
RF020:Krt2 UTSW 15 101817968 missense unknown
Z1177:Krt2 UTSW 15 101811550 nonsense probably null
Posted On 2014-05-07