Mutagenetix > Incidental Mutation

Incidental Mutation 'R0785:Krt2'

76831

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

038965-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101817921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 61 (G61C)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

unknown
Transcript: ENSMUST00000023712
AA Change: G61C

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: G61C

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

0.2443

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.1%
20x: 87.1%

Validation Efficiency

100% (36/36)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,959,334		probably benign	Het
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Adam10	A	G	9: 70,767,888	E593G	possibly damaging	Het
Adh6a	T	C	3: 138,329,068		probably benign	Het
AI464131	A	G	4: 41,497,539	V697A	probably benign	Het
Akap6	T	A	12: 52,886,622	I299N	probably benign	Het
Bod1l	A	T	5: 41,820,016	N1318K	probably benign	Het
Cd3eap	G	C	7: 19,357,285	S299C	probably benign	Het
Eif2b2	C	A	12: 85,221,561	T170K	probably damaging	Het
Ermard	T	A	17: 15,021,977	H138Q	probably damaging	Het
Ern2	A	T	7: 122,171,661		probably null	Het
Fkbp11	T	C	15: 98,726,549	K108R	probably damaging	Het
Gm6588	A	G	5: 112,450,568	D327G	probably benign	Het
Golgb1	A	G	16: 36,898,790	K353E	possibly damaging	Het
Hipk1	G	T	3: 103,754,325		probably null	Het
Itga4	A	G	2: 79,289,305	D485G	possibly damaging	Het
Med12l	T	A	3: 59,260,832	L1561Q	probably damaging	Het
Mtmr14	T	C	6: 113,277,947		probably null	Het
Naip1	A	G	13: 100,423,076	M1140T	probably benign	Het
Naip1	C	T	13: 100,423,085	R1137Q	probably benign	Het
Nav2	T	A	7: 49,420,333	H251Q	probably benign	Het
Nphp4	A	G	4: 152,562,109	D1366G	possibly damaging	Het
Olfr1535	A	G	13: 21,555,788	V78A	probably benign	Het
Olfr790	A	G	10: 129,500,881		probably null	Het
Pde6c	A	C	19: 38,133,180	M79L	probably benign	Het
Pld5	C	T	1: 175,975,452		probably benign	Het
Rps6kc1	A	G	1: 190,808,945	V387A	probably damaging	Het
Tas2r136	T	C	6: 132,777,927	D79G	probably benign	Het
Tmem243	A	T	5: 9,118,488	K90I	probably damaging	Het
Topbp1	A	G	9: 103,315,090	H260R	probably damaging	Het
Trappc1	A	G	11: 69,324,810		probably benign	Het
Vmn2r125	C	A	4: 156,351,101	A258D	probably benign	Het
Zfp300	T	C	X: 21,082,925	Y200C	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
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'- GCAAGAGGCTCTGATTGACAGACAC -3'
(R):5'- ACAGCACACTTTGGTCTCCAGC -3'

Sequencing Primer
(F):5'- TCATGGATACCTCCACCAGGG -3'
(R):5'- ACATCATGAGTTGCCAGATCTC -3'

Posted On

2013-10-16