Mutagenetix > Incidental Mutation

Incidental Mutation 'R0472:Krt2'

46848

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

038672-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0472 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101813253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 451 (R451H)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: R451H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: R451H

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

0.1560

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (65/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,122		noncoding transcript	Het
AI182371	T	C	2: 35,085,206	N337S	probably benign	Het
Aldh3b1	C	T	19: 3,914,024	R426H	probably damaging	Het
Arap2	A	G	5: 62,706,659	F541L	probably damaging	Het
Asap2	G	T	12: 21,213,185	R267L	possibly damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Bmp8b	T	A	4: 123,121,899	D226E	probably benign	Het
C1ra	T	A	6: 124,517,444	D283E	possibly damaging	Het
Cacul1	G	T	19: 60,543,026	H268Q	probably damaging	Het
Cd9	T	C	6: 125,472,433	N49D	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179	H193R	probably damaging	Het
Cep290	G	A	10: 100,551,455	G1935E	probably benign	Het
Cep350	A	T	1: 155,914,723	I1362N	probably damaging	Het
Chchd7	A	T	4: 3,943,416	N61I	possibly damaging	Het
Clca1	A	T	3: 145,027,345	L134Q	probably damaging	Het
Clec2j	T	C	6: 128,656,602		noncoding transcript	Het
Clvs1	G	A	4: 9,281,801	A82T	probably damaging	Het
Csn1s1	A	T	5: 87,677,627	Y231F	possibly damaging	Het
Cyp2c55	A	T	19: 39,031,379	T254S	probably benign	Het
D430042O09Rik	A	G	7: 125,872,967	N1548S	probably damaging	Het
Decr1	A	G	4: 15,919,849	S290P	probably damaging	Het
Dnaic2	T	A	11: 114,745,189		probably benign	Het
Dock4	C	A	12: 40,838,438		probably benign	Het
Dst	T	C	1: 34,266,960		probably null	Het
Elmo2	A	G	2: 165,298,330	I315T	probably damaging	Het
Fam208b	A	G	13: 3,588,364	S456P	possibly damaging	Het
Fcho2	A	G	13: 98,748,267	F431L	probably benign	Het
Fez2	A	G	17: 78,384,832		probably benign	Het
Gas2l3	C	T	10: 89,426,477	A128T	probably damaging	Het
Hpse2	T	C	19: 43,013,163	I222M	probably damaging	Het
Kcna2	A	G	3: 107,105,516	D471G	probably benign	Het
Kcnj13	T	A	1: 87,386,846	Y218F	probably benign	Het
Kif1a	T	C	1: 93,018,997	H1763R	probably damaging	Het
Lama2	A	G	10: 26,990,867	V2877A	probably damaging	Het
Lrrc2	A	T	9: 110,962,617	M80L	probably benign	Het
Naip6	A	G	13: 100,302,260	V343A	probably benign	Het
Nedd4l	T	C	18: 65,208,461	Y753H	probably damaging	Het
Nif3l1	A	C	1: 58,447,828	S58R	probably damaging	Het
Olfr1153	T	A	2: 87,896,493	V98E	possibly damaging	Het
Olfr573-ps1	A	T	7: 102,942,051	C175*	probably null	Het
Olfr823	G	A	10: 130,112,580	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,234,444	Y632*	probably null	Het
Pask	A	T	1: 93,320,917	D920E	probably benign	Het
Pclo	T	C	5: 14,681,594	V3370A	unknown	Het
Ptpn21	G	A	12: 98,704,240		probably benign	Het
Rph3al	T	C	11: 75,908,969	I55V	probably benign	Het
Rsad2	T	G	12: 26,454,168	I121L	possibly damaging	Het
Sergef	T	G	7: 46,633,746		probably benign	Het
Sp110	C	T	1: 85,589,120	E219K	possibly damaging	Het
Tas2r104	T	C	6: 131,685,471	I92V	probably benign	Het
Tbc1d23	T	A	16: 57,173,106	I566F	possibly damaging	Het
Tbc1d9b	A	G	11: 50,168,228		probably null	Het
Tie1	T	A	4: 118,476,147	I841L	possibly damaging	Het
Tpo	A	G	12: 30,100,486	V465A	probably benign	Het
Ttll3	A	T	6: 113,409,339	Q711L	probably damaging	Het
Ttn	C	T	2: 76,953,041	R869H	probably benign	Het
Uggt2	A	G	14: 119,095,336	V62A	probably damaging	Het
Usp34	T	C	11: 23,384,509		probably benign	Het
Vmn1r17	C	A	6: 57,361,319	M20I	probably benign	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r120	C	T	17: 57,524,518	V424I	probably benign	Het
Vps13b	T	C	15: 35,417,633		probably null	Het
Wdfy3	C	A	5: 101,957,443	A173S	probably benign	Het
Wdr59	T	C	8: 111,486,997		probably null	Het
Ythdc2	A	T	18: 44,864,357	M994L	probably benign	Het
Zfp808	T	A	13: 62,172,306	F450I	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACAAGGCTGCTGCTCTCATC -3'
(R):5'- AGTATCTGAGACTTCCTGGGCCAAC -3'

Sequencing Primer
(F):5'- GCTTGGAGAAACCTATTGATGCC -3'
(R):5'- GGCCAACGATTCTGGTTTC -3'

Posted On

2013-06-11