Mutagenetix > Incidental Mutation

Incidental Mutation 'R4980:Krt82'

384776

Institutional Source

Beutler Lab

Gene Symbol

Krt82

Ensembl Gene

ENSMUSG00000049548

Gene Name

keratin 82

Synonyms

Krt2-20

MMRRC Submission

042575-MU

Accession Numbers

Essential gene?

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

Stock #

R4980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101449651-101459094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101453534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 284 (D284G)

Ref Sequence

ENSEMBL: ENSMUSP00000023713 (fasta)

Gene Model

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

AlphaFold

Q99M74

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023713
AA Change: D284G

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: D284G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,292 (GRCm39)	C189S	probably damaging	Het
Abcd3	A	T	3: 121,562,917 (GRCm39)		probably null	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Amhr2	T	A	15: 102,362,765 (GRCm39)	S511T	probably benign	Het
Atg16l1	T	C	1: 87,694,553 (GRCm39)	S77P	possibly damaging	Het
Bltp1	T	C	3: 36,997,461 (GRCm39)	S1173P	probably damaging	Het
Cacna1i	T	C	15: 80,232,650 (GRCm39)	F218L	probably damaging	Het
Cd5l	A	T	3: 87,274,908 (GRCm39)	H149L	probably benign	Het
Cdc14a	T	A	3: 116,186,506 (GRCm39)	R92*	probably null	Het
Col19a1	T	C	1: 24,565,564 (GRCm39)	T256A	unknown	Het
Col22a1	C	T	15: 71,673,792 (GRCm39)	A975T	unknown	Het
Cracd	A	T	5: 77,005,421 (GRCm39)	D594V	unknown	Het
Cyp20a1	T	C	1: 60,402,373 (GRCm39)	W153R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpyd	T	C	3: 118,710,767 (GRCm39)	S392P	probably damaging	Het
Dst	A	T	1: 34,295,369 (GRCm39)	L957F	probably damaging	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fbn2	T	C	18: 58,143,703 (GRCm39)	E2784G	probably benign	Het
Fbxw10	T	C	11: 62,738,583 (GRCm39)	I159T	possibly damaging	Het
Fgfr2	T	C	7: 129,802,810 (GRCm39)	Y192C	probably damaging	Het
Gm7298	A	G	6: 121,736,198 (GRCm39)		probably null	Het
Igf2r	C	T	17: 12,922,247 (GRCm39)		probably null	Het
Ints4	T	C	7: 97,151,057 (GRCm39)		probably null	Het
Kcnf1	A	G	12: 17,225,012 (GRCm39)	F403S	possibly damaging	Het
Kif11	C	T	19: 37,375,819 (GRCm39)	Q211*	probably null	Het
Kif13a	A	G	13: 46,906,222 (GRCm39)	S574P	possibly damaging	Het
Kifc3	T	A	8: 95,853,177 (GRCm39)	T60S	probably benign	Het
Lancl1	T	C	1: 67,043,968 (GRCm39)	Y344C	probably benign	Het
Ltbp3	A	T	19: 5,803,955 (GRCm39)		probably null	Het
Map3k4	A	G	17: 12,490,958 (GRCm39)	F158L	probably damaging	Het
Mast2	A	G	4: 116,174,948 (GRCm39)	Y469H	probably damaging	Het
Mcf2l	T	G	8: 13,034,883 (GRCm39)	F97C	probably damaging	Het
Mpeg1	T	C	19: 12,438,904 (GRCm39)	S121P	probably damaging	Het
Mycbp2	A	T	14: 103,497,821 (GRCm39)		probably null	Het
Myt1l	A	T	12: 29,877,038 (GRCm39)	T230S	unknown	Het
Naa15	T	C	3: 51,366,173 (GRCm39)		probably null	Het
Nans	G	A	4: 46,492,764 (GRCm39)	R64Q	probably benign	Het
Nbea	C	T	3: 55,554,772 (GRCm39)		probably null	Het
Nbea	T	C	3: 55,860,466 (GRCm39)	E1870G	probably benign	Het
Ncapd3	T	C	9: 26,974,591 (GRCm39)	S688P	probably damaging	Het
Nedd4l	G	T	18: 65,213,131 (GRCm39)	E96*	probably null	Het
Or56a5	T	A	7: 104,793,431 (GRCm39)	Y23F	probably benign	Het
Or5b21	A	T	19: 12,839,384 (GRCm39)	M82L	probably benign	Het
Pdxk	A	G	10: 78,287,318 (GRCm39)	L81P	probably damaging	Het
Plec	T	A	15: 76,077,495 (GRCm39)	R269*	probably null	Het
Plec	T	C	15: 76,090,065 (GRCm39)	I92V	probably damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppp2r2c	A	T	5: 37,109,732 (GRCm39)	M364L	probably benign	Het
Prag1	A	C	8: 36,606,740 (GRCm39)	H827P	probably damaging	Het
Ptprg	A	G	14: 12,154,421 (GRCm38)	N714S	probably benign	Het
Rbp2	G	A	9: 98,380,894 (GRCm39)	V67I	probably benign	Het
Rictor	T	A	15: 6,811,141 (GRCm39)	Y835N	probably damaging	Het
Ripply2	A	G	9: 86,901,747 (GRCm39)	Q91R	probably damaging	Het
Sap130	C	A	18: 31,782,699 (GRCm39)	H203Q	possibly damaging	Het
Sema4d	T	C	13: 51,865,270 (GRCm39)	Y358C	probably damaging	Het
Serbp1	G	A	6: 67,254,872 (GRCm39)	D294N	probably benign	Het
Slc16a10	A	G	10: 39,956,801 (GRCm39)	W113R	probably damaging	Het
Slc6a6	A	G	6: 91,703,041 (GRCm39)	Y138C	probably damaging	Het
Spag11a	T	C	8: 19,207,962 (GRCm39)	M1T	probably null	Het
Spata20	T	C	11: 94,375,435 (GRCm39)	M120V	probably damaging	Het
Stk32a	A	C	18: 43,447,113 (GRCm39)	K357Q	probably benign	Het
Tasor	T	A	14: 27,183,382 (GRCm39)	L614I	probably benign	Het
Trmo	A	T	4: 46,389,364 (GRCm39)	C10*	probably null	Het
Tsc22d1	T	G	14: 76,655,696 (GRCm39)	V643G	probably benign	Het
Vangl2	A	T	1: 171,837,132 (GRCm39)	L226I	probably damaging	Het
Vps35l	T	A	7: 118,406,232 (GRCm39)	D605E	probably damaging	Het
Wnt3a	A	T	11: 59,140,626 (GRCm39)	C297S	probably damaging	Het
Wwc1	T	C	11: 35,778,930 (GRCm39)	K301E	possibly damaging	Het
Zfhx4	C	T	3: 5,464,039 (GRCm39)	T1399I	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
R5212:Krt82	UTSW	15	101,453,484 (GRCm39)	missense	probably damaging	1.00
R5260:Krt82	UTSW	15	101,456,823 (GRCm39)	missense	possibly damaging	0.88
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'- AATGGGACCCTGTCTTCTGC -3'
(R):5'- CCCTTAGAGAAGTTCTGGGTCAC -3'

Sequencing Primer
(F):5'- GGGACCCTGTCTTCTGCTTCTC -3'
(R):5'- CAGGCTGGGGATTATAGGCC -3'

Posted On

2016-05-10