Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Krt82'

401404

Institutional Source

Beutler Lab

Gene Symbol

Krt82

Ensembl Gene

ENSMUSG00000049548

Gene Name

keratin 82

Synonyms

Krt2-20

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101449651-101459094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101456823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 186 (G186C)

Ref Sequence

ENSEMBL: ENSMUSP00000023713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]

AlphaFold

Q99M74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023713
AA Change: G186C

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: G186C

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000023714

SMART Domains

Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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 keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	probably damaging	Het

Other mutations in Krt82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Krt82	APN	15	101,451,813 (GRCm39)	missense	probably damaging	0.97
IGL01112:Krt82	APN	15	101,453,958 (GRCm39)	missense	probably damaging	1.00
IGL01820:Krt82	APN	15	101,451,887 (GRCm39)	splice site	probably benign
IGL02529:Krt82	APN	15	101,458,831 (GRCm39)	nonsense	probably null
IGL02894:Krt82	APN	15	101,451,155 (GRCm39)	missense	probably damaging	1.00
IGL02974:Krt82	APN	15	101,459,020 (GRCm39)	nonsense	probably null
IGL03263:Krt82	APN	15	101,450,307 (GRCm39)	missense	probably benign	0.00
R0268:Krt82	UTSW	15	101,450,148 (GRCm39)	missense	probably benign	0.02
R0385:Krt82	UTSW	15	101,454,028 (GRCm39)	missense	probably damaging	1.00
R0542:Krt82	UTSW	15	101,454,035 (GRCm39)	splice site	probably benign
R1073:Krt82	UTSW	15	101,458,689 (GRCm39)	missense	probably damaging	1.00
R1601:Krt82	UTSW	15	101,453,588 (GRCm39)	missense	probably damaging	1.00
R1795:Krt82	UTSW	15	101,451,819 (GRCm39)	missense	possibly damaging	0.90
R1944:Krt82	UTSW	15	101,456,970 (GRCm39)	missense	probably damaging	1.00
R1974:Krt82	UTSW	15	101,453,597 (GRCm39)	missense	probably benign	0.00
R2049:Krt82	UTSW	15	101,453,591 (GRCm39)	missense	probably damaging	0.96
R2140:Krt82	UTSW	15	101,453,591 (GRCm39)	missense	probably damaging	0.96
R2851:Krt82	UTSW	15	101,456,870 (GRCm39)	missense	probably damaging	1.00
R2852:Krt82	UTSW	15	101,456,870 (GRCm39)	missense	probably damaging	1.00
R2853:Krt82	UTSW	15	101,456,870 (GRCm39)	missense	probably damaging	1.00
R3815:Krt82	UTSW	15	101,459,035 (GRCm39)	missense	probably damaging	1.00
R4324:Krt82	UTSW	15	101,450,182 (GRCm39)	missense	probably benign	0.00
R4798:Krt82	UTSW	15	101,458,923 (GRCm39)	missense	probably benign	0.01
R4980:Krt82	UTSW	15	101,453,534 (GRCm39)	missense	possibly damaging	0.85
R5212:Krt82	UTSW	15	101,453,484 (GRCm39)	missense	probably damaging	1.00
R5821:Krt82	UTSW	15	101,456,820 (GRCm39)	nonsense	probably null
R6009:Krt82	UTSW	15	101,453,540 (GRCm39)	missense	probably benign	0.00
R6955:Krt82	UTSW	15	101,451,284 (GRCm39)	missense	probably damaging	1.00
R7194:Krt82	UTSW	15	101,451,191 (GRCm39)	missense	probably damaging	1.00
R7307:Krt82	UTSW	15	101,451,342 (GRCm39)	missense	probably damaging	0.97
R7420:Krt82	UTSW	15	101,454,022 (GRCm39)	missense	probably damaging	0.96
R7837:Krt82	UTSW	15	101,456,792 (GRCm39)	missense	possibly damaging	0.86
R8354:Krt82	UTSW	15	101,450,238 (GRCm39)	missense	probably damaging	1.00
R8371:Krt82	UTSW	15	101,453,546 (GRCm39)	missense	probably benign	0.12
R8454:Krt82	UTSW	15	101,450,238 (GRCm39)	missense	probably damaging	1.00
R8692:Krt82	UTSW	15	101,456,828 (GRCm39)	missense	possibly damaging	0.75
R9111:Krt82	UTSW	15	101,451,786 (GRCm39)	missense	probably benign	0.01
R9187:Krt82	UTSW	15	101,450,260 (GRCm39)	missense	probably benign	0.01
R9346:Krt82	UTSW	15	101,458,959 (GRCm39)	missense	probably benign
R9527:Krt82	UTSW	15	101,454,558 (GRCm39)	missense	probably benign	0.39
Z1176:Krt82	UTSW	15	101,450,287 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTGCACTACTCAGTTG -3'
(R):5'- ATACATCCCTCTGGGTGTTAGTC -3'

Sequencing Primer
(F):5'- GCACTACTCAGTTGTTTTCGTG -3'
(R):5'- TCTGCAGAGACCTGGCGATG -3'

Posted On

2016-07-06