Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02538:Krt2'

297580

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

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101811154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 694 (S694P)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023712]

AlphaFold

Q3TTY5

Predicted Effect

unknown
Transcript: ENSMUST00000023712
AA Change: S694P

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: S694P

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0831

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,306,605	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,527,246	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,115,056	H257R	probably damaging	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Atg2a	A	G	19: 6,257,628	T1531A	probably benign	Het
Bsn	A	G	9: 108,105,236	S1001P	unknown	Het
Btn1a1	T	C	13: 23,459,215	T355A	possibly damaging	Het
Cd22	G	T	7: 30,877,560	N107K	probably benign	Het
Ceacam10	A	G	7: 24,778,483	H141R	probably damaging	Het
Chil3	T	C	3: 106,164,129	D73G	probably damaging	Het
Cit	C	T	5: 115,986,989	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,708,753	I418K	possibly damaging	Het
Efcab6	T	A	15: 84,054,521		probably benign	Het
Eif4g2	T	C	7: 111,079,316	I110V	probably benign	Het
Fam217a	T	C	13: 34,911,113	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,558	K342N	probably damaging	Het
Git2	A	T	5: 114,730,986		probably benign	Het
Gm4951	A	T	18: 60,245,872	K160*	probably null	Het
Gm8126	A	T	14: 43,259,590	R63W	probably benign	Het
Ica1l	T	C	1: 60,010,186	K203E	probably benign	Het
Inpp5d	A	G	1: 87,695,366	M393V	probably null	Het
Kbtbd11	A	G	8: 15,028,841	D480G	probably damaging	Het
Klhl1	T	C	14: 96,240,213	N473S	probably benign	Het
Lhfp	C	T	3: 53,043,311	A2V	probably benign	Het
Lipk	T	A	19: 34,046,879	L354Q	probably damaging	Het
Luzp2	T	A	7: 55,211,798	L225*	probably null	Het
Mknk1	C	T	4: 115,860,091	Q58*	probably null	Het
Mut	A	T	17: 40,938,619	I162F	probably damaging	Het
Nol11	T	A	11: 107,173,373	M518L	probably benign	Het
Nubpl	T	C	12: 52,310,694		probably benign	Het
Nup35	T	A	2: 80,644,219	S93R	possibly damaging	Het
Olfr330	T	C	11: 58,529,990		probably benign	Het
Olfr992	T	A	2: 85,400,303	I77F	probably damaging	Het
Pex3	T	C	10: 13,535,600	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 125,451,977	S1128P	probably damaging	Het
Terb2	T	C	2: 122,204,808		probably benign	Het
Trim72	A	G	7: 128,004,770	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,111,043	D830G	possibly damaging	Het
Uri1	A	G	7: 37,965,491	S259P	probably benign	Het
Usp38	A	T	8: 80,985,558	L616H	probably damaging	Het
Uspl1	T	A	5: 149,188,459	C73S	probably damaging	Het
Wdr7	C	A	18: 63,796,235	D1047E	probably benign	Het

Other mutations in Krt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02017:Krt2	APN	15	101816504	missense	probably damaging	1.00
IGL02022:Krt2	APN	15	101816518	missense	probably damaging	1.00
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

2015-04-16