Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Krt2'

526856

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101815963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 289 (Y289H)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: Y289H

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

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: Y289H

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,723,464	H741Q	possibly damaging	Het
Amy2a1	T	C	3: 113,531,714	Y77C	probably damaging	Het
Ankrd9	C	A	12: 110,977,768		probably benign	Het
Arhgap28	C	A	17: 67,845,751	W675L	probably damaging	Het
Arhgap44	A	G	11: 65,010,008	S595P	probably damaging	Het
Cacna1d	C	A	14: 30,089,875	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,495,963		probably benign	Het
Celsr1	A	G	15: 85,918,934	V2468A	probably damaging	Het
Chd2	T	C	7: 73,490,482	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,609,642	V775L	probably damaging	Het
Cux2	C	A	5: 121,869,297	R767L	probably benign	Het
Decr2	A	G	17: 26,083,587	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,799,389	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,623,450	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,378,097	F80I	probably damaging	Het
Fmnl2	C	A	2: 53,108,285	P554Q	probably damaging	Het
Gapvd1	C	T	2: 34,728,438	D308N	probably damaging	Het
Gatb	A	G	3: 85,652,419		probably null	Het
Jcad	G	A	18: 4,675,256	G1006D	probably damaging	Het
Lrrc52	A	G	1: 167,466,353	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,125,193	T299I	unknown	Het
Magi1	T	C	6: 93,943,308	N109S	probably benign	Het
Mbd4	C	A	6: 115,849,155	E271*	probably null	Het
Meis2	T	A	2: 115,864,270	D457V	probably damaging	Het
Mroh8	A	G	2: 157,225,627	V604A	probably benign	Het
Nedd4	T	A	9: 72,686,095	V150E	probably damaging	Het
Nes	A	G	3: 87,976,936	E790G	probably damaging	Het
Olfr1098	T	C	2: 86,923,148	N128S	probably benign	Het
Pik3c2a	T	C	7: 116,368,758	I834V	possibly damaging	Het
Plxnb1	T	C	9: 109,104,299	C666R	possibly damaging	Het
Prg2	T	C	2: 84,983,276		probably null	Het
Selenbp2	A	G	3: 94,702,514	D257G	probably damaging	Het
Slf1	T	C	13: 77,043,845	R957G	probably damaging	Het
Smim10l1	T	A	6: 133,105,550	M46K	possibly damaging	Het
Sptbn5	T	C	2: 120,072,375	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,858,429		probably benign	Het
Tex14	A	G	11: 87,495,016	E234G	probably damaging	Het
Tmbim4	T	C	10: 120,224,651	V181A	probably benign	Het
Trappc9	A	G	15: 72,590,144	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,654,152	C143*	probably null	Het
Ushbp1	C	T	8: 71,390,661	C314Y	unknown	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
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'- AGGCCCTGTTCTTCTCAGAAG -3'
(R):5'- CAGGGATTTGGAGCTCAAACATG -3'

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

Posted On

2018-07-23