Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01568:Krt2'

91041

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 #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101813211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 465 (D465V)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: D465V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: D465V

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,573,698		probably benign	Het
Akap13	T	A	7: 75,608,522	L298*	probably null	Het
Capn15	G	T	17: 25,965,445	R21S	probably damaging	Het
Cbs	A	G	17: 31,621,514	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,652	I144T	probably benign	Het
Dok4	T	A	8: 94,866,802	I119F	probably benign	Het
Dpp9	T	C	17: 56,191,159	N599S	probably benign	Het
Ep400	T	C	5: 110,719,495	T984A	unknown	Het
Fcrls	T	C	3: 87,256,679	N381S	probably damaging	Het
Fhod3	A	G	18: 25,120,162	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,070,669	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,677,616	T46A	probably benign	Het
Gm3696	T	C	14: 7,089,819	N88S	probably benign	Het
Gm5277	A	G	3: 78,892,436		noncoding transcript	Het
Gpr153	C	A	4: 152,282,368		probably null	Het
Hgf	A	T	5: 16,564,814	K95N	probably damaging	Het
Igf2r	A	G	17: 12,683,985	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,257,896		probably null	Het
Il17re	G	T	6: 113,470,052	R588L	probably damaging	Het
Itch	T	C	2: 155,212,462		probably benign	Het
Krt28	G	T	11: 99,371,417	P249Q	probably damaging	Het
Lax1	A	T	1: 133,680,300	D234E	probably benign	Het
Mtmr3	A	G	11: 4,527,861	I61T	probably damaging	Het
Naip5	G	T	13: 100,217,101	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,833,938	T466A	probably benign	Het
Olfr1350	A	T	7: 6,570,570	H193L	possibly damaging	Het
Olfr283	T	C	15: 98,378,906	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,302,001	V340A	possibly damaging	Het
Pclo	C	T	5: 14,678,429		probably benign	Het
Piezo2	C	T	18: 63,030,392	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,729,552		probably null	Het
Ptprs	G	A	17: 56,413,958	H1432Y	probably damaging	Het
Rars	A	G	11: 35,825,981		probably benign	Het
Scrn1	A	G	6: 54,522,754		probably benign	Het
Sdr42e1	T	C	8: 117,663,443	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,065,626	S245R	probably damaging	Het
Tns1	T	G	1: 73,953,509	D670A	probably damaging	Het
Trim16	T	A	11: 62,820,858	D118E	probably benign	Het
Trpv1	A	G	11: 73,238,443	D62G	probably benign	Het
Tyr	A	G	7: 87,437,948	L452P	probably damaging	Het
Ubr4	T	C	4: 139,421,373	C1723R	probably damaging	Het
Uqcrb	G	A	13: 66,901,395		probably benign	Het
Vax2	G	T	6: 83,711,537	V81L	possibly damaging	Het
Zan	A	G	5: 137,464,844	V691A	unknown	Het
Zfp335	A	G	2: 164,894,788	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,024,132	P56S	probably damaging	Het

Other mutations in Krt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Krt2	APN	15	101811211	missense	probably benign	0.23
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
IGL02538:Krt2	APN	15	101811154	missense	unknown
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

2013-12-09