Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Krt2'

485794

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

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

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 101815914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 305 (T305S)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000023712
AA Change: T305S

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

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: T305S

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,252	*301W	probably null	Het
Abat	A	G	16: 8,605,550	I236V	probably benign	Het
Abca8a	T	C	11: 110,070,423	T558A	probably benign	Het
Ace3	A	C	11: 105,994,938	M57L	probably benign	Het
Adgrg1	T	C	8: 95,002,501	S18P	probably benign	Het
Ahi1	A	G	10: 21,058,165	D60G	probably benign	Het
Ap4e1	T	A	2: 127,028,160		probably null	Het
Arnt2	C	A	7: 84,361,565	K34N	probably damaging	Het
Ascc3	T	A	10: 50,617,925	M152K	probably benign	Het
AW551984	A	T	9: 39,593,755	F480L	probably benign	Het
Blvrb	G	A	7: 27,459,348	A58T	possibly damaging	Het
Bpifa1	C	T	2: 154,143,972	T69I	probably benign	Het
Cacna1g	T	A	11: 94,430,171	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,412	I361V	probably benign	Het
Clca4b	T	A	3: 144,926,166	I193F	possibly damaging	Het
Crb1	A	T	1: 139,248,948	Y371*	probably null	Het
Cul9	T	C	17: 46,521,928	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,444,640	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,256,292	S780T	probably benign	Het
Fzd5	G	T	1: 64,735,656	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695	S340P	probably damaging	Het
Galnt7	T	C	8: 57,526,166	D641G	probably damaging	Het
Gm7133	A	G	1: 97,183,223		noncoding transcript	Het
Heatr5b	A	G	17: 78,813,173	L774P	possibly damaging	Het
Itch	T	A	2: 155,174,065	S157T	probably benign	Het
Itgam	A	C	7: 128,085,652	D398A	probably damaging	Het
Kalrn	G	T	16: 33,985,191	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,819,451	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,860,692		probably benign	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Naf1	T	A	8: 66,883,444	I341K	probably damaging	Het
Nbea	G	T	3: 56,029,896	H765N	probably damaging	Het
Ncapd3	A	G	9: 27,063,982	I776V	probably benign	Het
Neo1	A	T	9: 58,917,008	D712E	probably benign	Het
Neu1	G	A	17: 34,934,754	V385I	probably benign	Het
Olfr114	C	A	17: 37,589,926	R142S	probably benign	Het
Olfr575	C	A	7: 102,954,804	G273C	probably damaging	Het
Olfr575	A	G	7: 102,955,530	Y24H	probably benign	Het
Pgghg	A	C	7: 140,943,395	T196P	possibly damaging	Het
Pira2	A	T	7: 3,842,446	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,082,368	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509	N21K	probably damaging	Het
Prune1	T	C	3: 95,262,243	D216G	probably benign	Het
Ptpn23	G	T	9: 110,387,825		probably benign	Het
Ranbp2	T	A	10: 58,465,529	M668K	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpsa	G	T	9: 120,131,036	V222L	probably benign	Het
Sept2	A	G	1: 93,497,376	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,625,014	D260V	probably damaging	Het
Srrm2	G	T	17: 23,820,356	M2087I	possibly damaging	Het
Tg	T	C	15: 66,828,457	L88P	probably damaging	Het
Tns1	A	G	1: 73,952,419		probably null	Het
Topbp1	A	T	9: 103,346,961	D1429V	probably benign	Het
Tprg	A	G	16: 25,422,401		probably null	Het
Trit1	T	C	4: 123,039,468	I66T	possibly damaging	Het
Usf3	A	T	16: 44,217,307	I717L	probably 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
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'- TATGGAAGTTAAAACACAGAGGCCC -3'
(R):5'- GGATTTGGAGCTCAAACATGC -3'

Sequencing Primer
(F):5'- AGAGGCCCTGTTCTTCTCAGAAG -3'
(R):5'- ACTGCAGTTGTCTTCTGG -3'

Posted On

2017-08-16