Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Krt2'

543995

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

045099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101815960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 290 (E290K)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: E290K

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

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: E290K

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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
1700011L22Rik	T	C	8: 79,248,424 (GRCm38)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,065,866 (GRCm38)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,643,163 (GRCm38)	I441F	probably damaging	Het
C5ar1	A	T	7: 16,248,912 (GRCm38)	V61E	probably damaging	Het
Camk2a	C	A	18: 60,943,175 (GRCm38)		probably benign	Het
Cd163	A	G	6: 124,317,714 (GRCm38)	Y579C	probably damaging	Het
Celf1	T	C	2: 91,010,476 (GRCm38)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,278,404 (GRCm38)	T178A	probably damaging	Het
Cryab	C	T	9: 50,753,448 (GRCm38)	P58S	probably benign	Het
Ctsf	G	T	19: 4,858,483 (GRCm38)	R290L	probably benign	Het
Ctsw	T	A	19: 5,465,837 (GRCm38)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,195,139 (GRCm38)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,250,294 (GRCm38)		probably null	Het
Etfb	A	G	7: 43,456,554 (GRCm38)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,612,031 (GRCm38)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,071,573 (GRCm38)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,701,134 (GRCm38)	I229N	probably damaging	Het
Fam162a	A	T	16: 36,049,845 (GRCm38)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,616,539 (GRCm38)	S44P	probably benign	Het
Fat3	T	G	9: 15,919,221 (GRCm38)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,152,784 (GRCm38)	K400E	probably benign	Het
Fndc7	A	G	3: 108,876,591 (GRCm38)	V234A	probably benign	Het
Gfi1	T	A	5: 107,717,768 (GRCm38)	H481L	probably damaging	Het
Gm5591	T	A	7: 38,519,223 (GRCm38)	H742L	probably benign	Het
Gm5724	G	A	6: 141,765,742 (GRCm38)	T81I	possibly damaging	Het
Gm853	A	G	4: 130,218,313 (GRCm38)	L192P	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576 (GRCm38)		probably benign	Het
H2-DMb1	A	C	17: 34,157,350 (GRCm38)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,187,070 (GRCm38)	L317P	probably damaging	Het
Hes3	T	C	4: 152,286,923 (GRCm38)	T190A	probably benign	Het
Hivep1	C	T	13: 42,158,714 (GRCm38)	L1477F	possibly damaging	Het
Insr	C	T	8: 3,258,752 (GRCm38)	G95S	probably damaging	Het
Irf9	A	G	14: 55,608,957 (GRCm38)	I394V	probably benign	Het
Kat2b	T	C	17: 53,638,522 (GRCm38)	L323P	probably damaging	Het
Kdr	T	C	5: 75,972,411 (GRCm38)	D69G	probably benign	Het
Krtap4-6	G	T	11: 99,665,719 (GRCm38)	R61S	unknown	Het
Lrrc27	A	T	7: 139,242,624 (GRCm38)	K477M	probably damaging	Het
Lvrn	T	C	18: 46,882,298 (GRCm38)	V579A	probably benign	Het
Malrd1	A	T	2: 16,150,791 (GRCm38)	I2004L	unknown	Het
Mast4	C	T	13: 102,804,647 (GRCm38)	V301I	probably damaging	Het
Mast4	A	T	13: 102,735,974 (GRCm38)	N2103K	probably benign	Het
Myo18a	T	A	11: 77,859,074 (GRCm38)		probably benign	Het
Olfr597	G	T	7: 103,320,791 (GRCm38)		probably benign	Het
Olfr975	T	A	9: 39,950,637 (GRCm38)	M45L	probably benign	Het
Pcdhga10	A	G	18: 37,749,256 (GRCm38)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,527,081 (GRCm38)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,240,837 (GRCm38)	E309G	probably benign	Het
Psmb8	A	G	17: 34,199,643 (GRCm38)	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,885,315 (GRCm38)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,124,924 (GRCm38)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,586,613 (GRCm38)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,624,600 (GRCm38)		probably benign	Het
Sec16a	A	T	2: 26,423,574 (GRCm38)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,216,016 (GRCm38)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,260,822 (GRCm38)	F79I	probably benign	Het
Slc2a6	G	T	2: 27,027,243 (GRCm38)	S45R	probably damaging	Het
Sppl3	T	A	5: 115,082,290 (GRCm38)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,416,117 (GRCm38)	L330*	probably null	Het
Tbx5	A	T	5: 119,871,389 (GRCm38)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,236,439 (GRCm38)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm38)	T465A	probably benign	Het
Unc45a	A	T	7: 80,325,655 (GRCm38)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,549,793 (GRCm38)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,603,214 (GRCm38)	L291P	probably benign	Het
Wwc2	A	T	8: 47,847,465 (GRCm38)	F988I	unknown	Het
Zfp947	G	A	17: 22,145,980 (GRCm38)	P238S	probably benign	Het

Other mutations in Krt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01316:Krt2	APN	15	101,811,211 (GRCm38)	missense	probably benign	0.23
IGL01568:Krt2	APN	15	101,813,211 (GRCm38)	missense	probably damaging	1.00
IGL01586:Krt2	APN	15	101,811,390 (GRCm38)	missense	unknown
IGL01667:Krt2	APN	15	101,816,330 (GRCm38)	missense	possibly damaging	0.85
IGL02017:Krt2	APN	15	101,816,504 (GRCm38)	missense	probably damaging	1.00
IGL02022:Krt2	APN	15	101,816,518 (GRCm38)	missense	probably damaging	1.00
IGL02538:Krt2	APN	15	101,811,154 (GRCm38)	missense	unknown
IGL02959:Krt2	APN	15	101,811,328 (GRCm38)	missense	unknown
IGL03295:Krt2	APN	15	101,816,429 (GRCm38)	missense	probably damaging	0.99
R0195:Krt2	UTSW	15	101,813,191 (GRCm38)	nonsense	probably null
R0472:Krt2	UTSW	15	101,813,253 (GRCm38)	missense	probably damaging	1.00
R0749:Krt2	UTSW	15	101,817,663 (GRCm38)	missense	unknown
R0785:Krt2	UTSW	15	101,817,921 (GRCm38)	missense	unknown
R0792:Krt2	UTSW	15	101,816,497 (GRCm38)	missense	probably damaging	1.00
R1232:Krt2	UTSW	15	101,811,784 (GRCm38)	missense	probably damaging	1.00
R1281:Krt2	UTSW	15	101,813,292 (GRCm38)	missense	probably damaging	1.00
R1770:Krt2	UTSW	15	101,811,154 (GRCm38)	missense	unknown
R1783:Krt2	UTSW	15	101,813,973 (GRCm38)	missense	probably damaging	1.00
R1795:Krt2	UTSW	15	101,816,426 (GRCm38)	missense	possibly damaging	0.85
R2283:Krt2	UTSW	15	101,814,387 (GRCm38)	missense	probably damaging	1.00
R3977:Krt2	UTSW	15	101,811,127 (GRCm38)	missense	unknown
R4575:Krt2	UTSW	15	101,814,486 (GRCm38)	missense	probably damaging	1.00
R4619:Krt2	UTSW	15	101,817,591 (GRCm38)	missense	probably damaging	1.00
R4620:Krt2	UTSW	15	101,817,591 (GRCm38)	missense	probably damaging	1.00
R4766:Krt2	UTSW	15	101,813,960 (GRCm38)	missense	probably damaging	1.00
R4819:Krt2	UTSW	15	101,811,544 (GRCm38)	missense	unknown
R4953:Krt2	UTSW	15	101,813,942 (GRCm38)	missense	probably damaging	1.00
R5108:Krt2	UTSW	15	101,813,286 (GRCm38)	missense	possibly damaging	0.88
R5973:Krt2	UTSW	15	101,816,312 (GRCm38)	missense	probably damaging	0.99
R6122:Krt2	UTSW	15	101,815,914 (GRCm38)	missense	probably damaging	1.00
R6180:Krt2	UTSW	15	101,815,044 (GRCm38)	missense	probably benign	0.05
R6661:Krt2	UTSW	15	101,815,963 (GRCm38)	missense	probably damaging	1.00
R6974:Krt2	UTSW	15	101,817,879 (GRCm38)	missense	unknown
R7104:Krt2	UTSW	15	101,815,087 (GRCm38)	missense	probably benign	0.09
R7573:Krt2	UTSW	15	101,814,519 (GRCm38)	missense	probably benign	0.05
R7947:Krt2	UTSW	15	101,816,334 (GRCm38)	missense	probably damaging	1.00
R8469:Krt2	UTSW	15	101,816,369 (GRCm38)	missense	probably benign	0.22
R8805:Krt2	UTSW	15	101,815,944 (GRCm38)	missense	possibly damaging	0.93
R9051:Krt2	UTSW	15	101,817,882 (GRCm38)	missense	unknown
R9118:Krt2	UTSW	15	101,814,541 (GRCm38)	missense	probably damaging	0.99
R9230:Krt2	UTSW	15	101,817,513 (GRCm38)	missense	probably benign	0.39
R9257:Krt2	UTSW	15	101,816,491 (GRCm38)	missense	probably benign	0.05
R9424:Krt2	UTSW	15	101,811,357 (GRCm38)	missense	unknown
R9569:Krt2	UTSW	15	101,816,489 (GRCm38)	missense	probably damaging	1.00
R9576:Krt2	UTSW	15	101,811,357 (GRCm38)	missense	unknown
RF020:Krt2	UTSW	15	101,817,968 (GRCm38)	missense	unknown
Z1177:Krt2	UTSW	15	101,811,550 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCCCTGTTCTTCTCAGAAG -3'
(R):5'- CAGGGATTTGGAGCTCAAACATG -3'

Sequencing Primer
(F):5'- TCTTCTCAGAAGAACCAGCTCCTG -3'
(R):5'- AACCTTGCCAACGGGAT -3'

Posted On

2019-05-13