Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Krt2'

701975

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

Accession Numbers

Is this an essential gene?

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

Stock #

R9257 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101816491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 228 (R228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably benign
Transcript: ENSMUST00000023712
AA Change: R228Q

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: R228Q

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,473,707	D17V	probably benign	Het
4933415F23Rik	G	T	1: 23,102,194	T13N	probably benign	Het
9130401M01Rik	A	C	15: 58,029,018	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,191,112	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,681,265	V546F	probably damaging	Het
AI464131	T	C	4: 41,499,030	D200G	probably benign	Het
Als2cl	T	A	9: 110,894,687	V717E	probably damaging	Het
Atm	A	G	9: 53,495,850		probably null	Het
Atp2c1	C	A	9: 105,414,652	E904*	probably null	Het
Ccdc88c	G	A	12: 100,923,215	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,815,885	I357F	probably benign	Het
Cilp	T	A	9: 65,267,169	V13D	possibly damaging	Het
Copz2	A	G	11: 96,857,560	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,600,792	E546K	probably benign	Het
Ctsm	T	C	13: 61,536,599	N320D	probably damaging	Het
Fat3	G	A	9: 15,996,567	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,435,888	S2T	probably benign	Het
Fgfr4	T	C	13: 55,168,161	S796P	unknown	Het
Flrt3	A	G	2: 140,660,239	F490L	probably benign	Het
Fras1	A	T	5: 96,762,500	I3263F	probably damaging	Het
Gm13089	T	A	4: 143,699,115	D86V	probably damaging	Het
Hydin	A	T	8: 110,575,016	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,700,592	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608	V396A	probably benign	Het
Lcn9	T	C	2: 25,824,772		probably null	Het
Lingo4	A	C	3: 94,403,369	D538A	probably benign	Het
Lonp1	G	T	17: 56,620,516	Y299*	probably null	Het
Mettl16	T	A	11: 74,817,301	V442D	possibly damaging	Het
Mis18bp1	A	G	12: 65,133,857	V950A	probably benign	Het
Mndal	A	T	1: 173,862,708	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,205,752	V117A	probably benign	Het
Muc6	T	A	7: 141,640,471	S1430C	unknown	Het
Myh11	C	A	16: 14,269,256	G119C		Het
Neu1	A	G	17: 34,931,420	D5G	probably benign	Het
Nrcam	T	A	12: 44,564,054	D512E	probably benign	Het
Nup214	T	G	2: 32,033,335	V1292G	possibly damaging	Het
Nwd1	T	A	8: 72,670,938	L602M	probably damaging	Het
Olfr803	C	A	10: 129,691,134	L302F	probably benign	Het
Pck2	G	T	14: 55,545,245	G379W	probably damaging	Het
Per2	C	T	1: 91,448,723	V143M	probably damaging	Het
Pfkl	A	T	10: 77,989,655	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,172,551	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,815,897	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,162,083	D1717N	probably damaging	Het
Prdm16	A	T	4: 154,337,698	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,865,245	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,946,265		probably benign	Het
Rhbdf1	T	C	11: 32,210,754	H634R	probably benign	Het
Rmi2	T	C	16: 10,835,225	S46P	probably benign	Het
Rrnad1	G	T	3: 87,924,461	Q397K	probably benign	Het
Rsf1	A	T	7: 97,685,711	E1350D		Het
Slc6a6	T	A	6: 91,739,971	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,083,473	Y120C	probably benign	Het
Stard13	G	T	5: 151,062,491	A518E	probably benign	Het
Taf2	A	T	15: 55,066,013	V49E	possibly damaging	Het
Tas2r137	T	A	6: 40,491,658	W141R	probably damaging	Het
Tlx2	T	A	6: 83,070,054	H9L	unknown	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tmem132d	G	A	5: 127,784,427	Q877*	probably null	Het
Unc5d	A	T	8: 28,725,146		probably null	Het
Upp1	A	T	11: 9,125,661	T4S	probably benign	Het
Uros	A	T	7: 133,691,124	I146N	probably damaging	Het
Vsig10	A	T	5: 117,325,066	D119V	probably benign	Het
Washc2	C	A	6: 116,216,108	Y138*	probably null	Het
Ywhah	T	A	5: 33,026,751	D99E	probably benign	Het
Zdbf2	G	A	1: 63,306,241	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,354,054	T82A	probably benign	Het
Zfp831	T	A	2: 174,646,363	C944S	possibly 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
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
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'- AAGTCTTCCACGAGATCCTGC -3'
(R):5'- GTCTATAGAACTTCCATGTGTGATG -3'

Sequencing Primer
(F):5'- CACGAGATCCTGCATGTTGTTCAG -3'
(R):5'- TCAGAAGCTCTGCCTGGTG -3'

Posted On

2022-03-25