Incidental Mutation 'R2150:Krt84'
ID234225
Institutional Source Beutler Lab
Gene Symbol Krt84
Ensembl Gene ENSMUSG00000044294
Gene Namekeratin 84
SynonymsKrt2-3, Krt2-16, HRb-1
MMRRC Submission 040153-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #R2150 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location101525026-101532820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101529584 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 312 (E312G)
Ref Sequence ENSEMBL: ENSMUSP00000023720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023720]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023720
AA Change: E312G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: E312G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 169 3.9e-39 PFAM
Filament 172 483 4.05e-163 SMART
low complexity region 535 560 N/A INTRINSIC
low complexity region 574 602 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229893
Meta Mutation Damage Score 0.268 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 87,586,063 Q159* probably null Het
Abca12 C A 1: 71,263,488 V2191L probably benign Het
Adam34 A G 8: 43,652,501 Y36H probably benign Het
Adprm A G 11: 67,038,229 V312A probably benign Het
Anapc2 T C 2: 25,272,670 L52P probably benign Het
Anxa2 TCCC TCC 9: 69,489,754 probably null Het
Apoc4 T A 7: 19,678,635 T62S probably damaging Het
Arfgef1 C T 1: 10,199,878 A349T probably benign Het
Arhgap32 A G 9: 32,116,140 E2G possibly damaging Het
Atg4c C A 4: 99,221,226 N143K possibly damaging Het
C1qtnf12 A G 4: 155,966,465 N297S probably benign Het
Cadps2 G T 6: 23,838,999 probably benign Het
Ccdc63 C G 5: 122,127,565 A71P possibly damaging Het
Cdca2 T C 14: 67,714,809 K38E probably damaging Het
Cyp2j11 G A 4: 96,316,358 T317I probably damaging Het
Dab2 T C 15: 6,416,917 V5A probably benign Het
Dennd3 A T 15: 73,555,060 H762L probably benign Het
Disp1 A G 1: 183,088,372 F828S probably damaging Het
Dnah2 T C 11: 69,515,761 M552V probably benign Het
Dock2 A G 11: 34,229,472 probably null Het
Dsel A T 1: 111,860,257 N849K probably benign Het
Fah A T 7: 84,594,834 I239N probably damaging Het
Flt4 T C 11: 49,645,997 Y1265H probably benign Het
Ghdc T C 11: 100,769,192 E243G probably benign Het
Glb1 T C 9: 114,450,648 Y375H probably damaging Het
Gm6619 A G 6: 131,489,058 I40V probably benign Het
Gpld1 T C 13: 24,962,647 V225A probably benign Het
Hectd4 T C 5: 121,253,858 probably benign Het
Igdcc4 A G 9: 65,125,335 I542V possibly damaging Het
Igsf9b T C 9: 27,334,337 L1200P probably damaging Het
Itgb7 C T 15: 102,222,118 V378M probably damaging Het
Man2a2 A G 7: 80,367,784 W250R probably damaging Het
Mcam T C 9: 44,136,635 V59A probably damaging Het
Mfrp T C 9: 44,103,718 L314P probably benign Het
Mgat5 T C 1: 127,469,250 V578A probably damaging Het
Mycbp2 G A 14: 103,155,922 H3068Y probably damaging Het
Myh1 A C 11: 67,222,408 D1873A probably benign Het
Nek9 A G 12: 85,329,903 W235R probably damaging Het
Olfr1013 T C 2: 85,769,998 S66P probably damaging Het
Parvb A G 15: 84,232,168 K33E possibly damaging Het
Pecr T C 1: 72,277,358 R63G possibly damaging Het
Pkhd1l1 T G 15: 44,499,982 probably null Het
Plekha5 T C 6: 140,570,403 V270A probably damaging Het
Prr14l T C 5: 32,830,702 D483G probably benign Het
Rimkla T A 4: 119,474,582 M140L possibly damaging Het
Senp1 C T 15: 98,058,315 V408I possibly damaging Het
Stambpl1 T A 19: 34,226,704 Y65N probably damaging Het
Tada2a T C 11: 84,079,629 D432G probably damaging Het
Themis T A 10: 28,668,727 I23N probably damaging Het
Thnsl1 T C 2: 21,212,533 I366T probably benign Het
Tmem131 C A 1: 36,812,609 V938L probably benign Het
Tmem178b A T 6: 40,207,501 Q111L probably damaging Het
Vmn1r195 C G 13: 22,278,764 L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,428,540 noncoding transcript Het
Zfp956 G A 6: 47,963,871 R388H probably damaging Het
Zfr2 T G 10: 81,242,116 V259G probably benign Het
Other mutations in Krt84
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Krt84 APN 15 101528735 missense probably damaging 1.00
IGL00227:Krt84 APN 15 101527773 missense probably benign 0.08
IGL01352:Krt84 APN 15 101528774 missense probably damaging 1.00
IGL01523:Krt84 APN 15 101528744 missense probably damaging 1.00
IGL01797:Krt84 APN 15 101528480 missense possibly damaging 0.93
IGL01874:Krt84 APN 15 101527804 missense probably damaging 1.00
IGL02044:Krt84 APN 15 101528496 missense probably damaging 1.00
IGL02183:Krt84 APN 15 101532356 missense unknown
IGL02455:Krt84 APN 15 101525735 missense unknown
IGL03023:Krt84 APN 15 101528445 missense possibly damaging 0.74
R0102:Krt84 UTSW 15 101528703 missense probably damaging 0.99
R0102:Krt84 UTSW 15 101528703 missense probably damaging 0.99
R0103:Krt84 UTSW 15 101530236 missense probably damaging 1.00
R0423:Krt84 UTSW 15 101528720 missense probably damaging 1.00
R0704:Krt84 UTSW 15 101532677 missense probably benign 0.00
R1500:Krt84 UTSW 15 101530224 missense probably damaging 0.99
R1647:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1650:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1651:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1652:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1731:Krt84 UTSW 15 101525963 missense possibly damaging 0.95
R1999:Krt84 UTSW 15 101529584 missense possibly damaging 0.76
R2106:Krt84 UTSW 15 101530866 missense probably damaging 1.00
R2212:Krt84 UTSW 15 101532538 missense probably benign 0.01
R2397:Krt84 UTSW 15 101530254 missense probably benign 0.18
R4722:Krt84 UTSW 15 101528411 missense probably damaging 1.00
R4926:Krt84 UTSW 15 101530254 missense probably benign 0.18
R5634:Krt84 UTSW 15 101528649 missense probably benign 0.30
R5807:Krt84 UTSW 15 101530212 missense probably damaging 1.00
R5978:Krt84 UTSW 15 101530230 missense probably damaging 1.00
R6524:Krt84 UTSW 15 101532752 missense unknown
R7032:Krt84 UTSW 15 101528489 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCACAGATGATGGGAGTTCATTG -3'
(R):5'- TAGGAACTGATGGACCCTCC -3'

Sequencing Primer
(F):5'- CTTAATATGGCTGTGGAGACGCC -3'
(R):5'- GGAACTGATGGACCCTCCTGTATATC -3'
Posted On2014-10-01