Incidental Mutation 'R2404:Krt90'
ID 248884
Institutional Source Beutler Lab
Gene Symbol Krt90
Ensembl Gene ENSMUSG00000048699
Gene Name keratin 90
Synonyms 4732456N10Rik
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101460791-101471385 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 101463105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]
AlphaFold E9Q1Z0
Predicted Effect probably benign
Transcript: ENSMUST00000023713
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548

DomainStartEndE-ValueType
low complexity region 38 57 N/A INTRINSIC
Pfam:Keratin_2_head 61 114 6.1e-13 PFAM
Filament 117 428 1.32e-153 SMART
Predicted Effect probably null
Transcript: ENSMUST00000023714
SMART Domains Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 139 3.1e-24 PFAM
Filament 142 453 1.05e-179 SMART
low complexity region 465 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197418
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Mcu A G 10: 59,303,526 (GRCm39) S104P probably damaging Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or12e9 A G 2: 87,202,568 (GRCm39) I231V probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Pnma8a A T 7: 16,694,316 (GRCm39) N57I probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc19a3 T A 1: 83,000,756 (GRCm39) H87L probably benign Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ttc13 C T 8: 125,405,736 (GRCm39) probably benign Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably damaging Het
Other mutations in Krt90
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Krt90 APN 15 101,471,064 (GRCm39) missense probably benign 0.06
IGL01656:Krt90 APN 15 101,463,878 (GRCm39) missense probably damaging 1.00
IGL02064:Krt90 APN 15 101,471,088 (GRCm39) missense possibly damaging 0.54
R0243:Krt90 UTSW 15 101,471,110 (GRCm39) missense possibly damaging 0.78
R0732:Krt90 UTSW 15 101,468,860 (GRCm39) missense possibly damaging 0.60
R1036:Krt90 UTSW 15 101,471,151 (GRCm39) missense probably benign 0.05
R1616:Krt90 UTSW 15 101,469,026 (GRCm39) missense possibly damaging 0.46
R1750:Krt90 UTSW 15 101,461,800 (GRCm39) unclassified probably benign
R1919:Krt90 UTSW 15 101,465,665 (GRCm39) missense probably damaging 1.00
R2063:Krt90 UTSW 15 101,466,794 (GRCm39) missense probably benign 0.07
R2107:Krt90 UTSW 15 101,471,064 (GRCm39) missense probably benign 0.06
R2155:Krt90 UTSW 15 101,471,046 (GRCm39) missense probably benign 0.00
R3412:Krt90 UTSW 15 101,469,028 (GRCm39) missense probably damaging 1.00
R3910:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R3911:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R3913:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R4476:Krt90 UTSW 15 101,465,718 (GRCm39) missense probably damaging 1.00
R4748:Krt90 UTSW 15 101,463,768 (GRCm39) missense probably damaging 1.00
R4918:Krt90 UTSW 15 101,470,914 (GRCm39) missense possibly damaging 0.47
R5883:Krt90 UTSW 15 101,461,654 (GRCm39) unclassified probably benign
R6416:Krt90 UTSW 15 101,467,679 (GRCm39) missense probably benign 0.12
R6674:Krt90 UTSW 15 101,465,761 (GRCm39) missense probably damaging 0.99
R7025:Krt90 UTSW 15 101,465,610 (GRCm39) missense possibly damaging 0.81
R7514:Krt90 UTSW 15 101,461,605 (GRCm39) missense unknown
R7915:Krt90 UTSW 15 101,466,838 (GRCm39) splice site probably null
R8307:Krt90 UTSW 15 101,467,634 (GRCm39) missense probably damaging 1.00
R8756:Krt90 UTSW 15 101,470,779 (GRCm39) critical splice donor site probably null
R9011:Krt90 UTSW 15 101,471,235 (GRCm39) missense probably benign 0.17
R9355:Krt90 UTSW 15 101,461,714 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGGAATGCTCAATGCTCTG -3'
(R):5'- TCATTGGCATGGGGTCTCTC -3'

Sequencing Primer
(F):5'- GGAATGCTCAATGCTCTGGACAC -3'
(R):5'- GGCTTCTAGTGCTCATGAGATAAATG -3'
Posted On 2014-11-11