Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Krt2'

722319

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: 0.131) question?

Stock #

R9576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101811357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 626 (Y626F)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

unknown
Transcript: ENSMUST00000023712
AA Change: Y626F

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: Y626F

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: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 82,063,642	I580N	probably benign	Het
Aars	T	A	8: 111,041,664	Y222*	probably null	Het
Abi2	G	T	1: 60,409,849	R16L	possibly damaging	Het
Adam9	C	A	8: 24,955,937	V814F	probably benign	Het
Adgrv1	T	C	13: 81,543,489	T1660A	probably benign	Het
Aipl1	C	T	11: 72,037,427	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,120,154	Y211*	probably null	Het
Ascc3	T	C	10: 50,618,158	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,119,136	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,368,385	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,837,975	T241A		Het
Chd9	T	A	8: 90,932,666	S85T	unknown	Het
Cltc	G	A	11: 86,702,411	S1542F	probably benign	Het
Col6a4	C	A	9: 106,068,072	A948S	probably benign	Het
Crygb	T	C	1: 65,080,527	D98G	probably benign	Het
Ctbp2	A	T	7: 133,014,469	S246T	probably benign	Het
Dcp1b	T	A	6: 119,220,032	Y563*	probably null	Het
Ddx59	T	A	1: 136,416,943	Y117*	probably null	Het
Dhx30	A	G	9: 110,087,644	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,140	T1030M	probably benign	Het
Dpp10	A	G	1: 123,341,680	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,259,683	T300S	probably benign	Het
Glp2r	T	C	11: 67,764,796	K40R	probably benign	Het
H2-Q5	G	A	17: 35,394,437	V49M		Het
Havcr1	T	A	11: 46,778,564	V290E	probably benign	Het
Hc	T	A	2: 34,983,755	T1656S	probably benign	Het
Hfm1	A	T	5: 106,874,072	I999N	probably benign	Het
Hoxc4	A	T	15: 103,035,958	E254V	probably benign	Het
Il5ra	T	C	6: 106,735,727	N275S	probably damaging	Het
Itfg2	C	A	6: 128,412,987	A272S	probably benign	Het
Itpr2	A	T	6: 146,311,007	I1537N	probably damaging	Het
Jakmip3	A	G	7: 139,020,259	E296G	probably damaging	Het
Jchain	T	G	5: 88,526,117	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,897,533	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Klk1b4	A	T	7: 44,211,053	D165V	probably benign	Het
Lrrk2	T	A	15: 91,752,185	L1454*	probably null	Het
Myb	C	T	10: 21,154,713	D62N	probably benign	Het
Myo18a	T	A	11: 77,819,001	I607N	probably damaging	Het
Nefh	C	T	11: 4,941,222	E466K	possibly damaging	Het
Nudc	T	C	4: 133,535,678	E118G	probably benign	Het
Olfr171	A	T	16: 19,624,211	D296E	probably damaging	Het
Olfr679	T	C	7: 105,086,553	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Per1	T	A	11: 69,108,029	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Plec	C	A	15: 76,231,177	A66S	probably benign	Het
Plekha7	T	C	7: 116,129,434	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 25,097,144	A302S	probably benign	Het
Prkag3	A	T	1: 74,747,923	W59R		Het
Rin3	T	A	12: 102,369,330	L420*	probably null	Het
Sash1	T	A	10: 8,744,535	M454L	probably benign	Het
Serpina3i	A	G	12: 104,268,471	T354A	probably benign	Het
Skap1	T	C	11: 96,581,204	F101S	probably benign	Het
Slc16a8	T	A	15: 79,251,982	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,702,105	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,318,786	D47A	probably benign	Het
Slfn9	T	A	11: 82,987,385	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,434,938	M387V	probably benign	Het
Srl	A	T	16: 4,483,167	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,862,365	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,609,837	G385W	probably damaging	Het
Tmem191c	C	T	16: 17,276,662	R62*	probably null	Het
Triobp	T	C	15: 78,960,066	S161P	probably damaging	Het
Usp13	A	T	3: 32,914,986		probably null	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r230	C	A	17: 20,846,901	C117*	probably null	Het
Vmn2r50	T	C	7: 10,037,263	Q837R	probably benign	Het
Zfp618	T	C	4: 63,133,045	S688P	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
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
RF020:Krt2	UTSW	15	101817968	missense	unknown
Z1177:Krt2	UTSW	15	101811550	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGAGCTAGATCCTGCTCC -3'
(R):5'- TAAGACTGGCTTCGGCTCTG -3'

Sequencing Primer
(F):5'- AGCTAGATCCTGCTCCTCCTGAG -3'
(R):5'- AAGCACCTATGGCTCTGGAG -3'

Posted On

2022-08-09