Mutagenetix > Incidental Mutation

Incidental Mutation 'R9051:Krt2'

688403

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R9051 (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 101817882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 74 (I74F)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

unknown
Transcript: ENSMUST00000023712
AA Change: I74F

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: I74F

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: 99.9%
20x: 99.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,335,232	T3289S	probably damaging	Het
Actr1b	G	T	1: 36,701,453	Q240K	probably benign	Het
Adamts19	T	C	18: 58,900,976	V341A	probably damaging	Het
Akirin2	C	A	4: 34,551,148	S35*	probably null	Het
Alg3	G	T	16: 20,609,015	Q90K	probably benign	Het
Alox12	C	T	11: 70,247,327	R394H	possibly damaging	Het
Ankrd17	A	C	5: 90,263,275	M1387R	probably damaging	Het
Anp32b	T	G	4: 46,468,592	F121V	possibly damaging	Het
Atp2b2	A	G	6: 113,763,605	V815A	probably damaging	Het
Atxn7l1	T	C	12: 33,367,421	L527S	probably benign	Het
B9d2	C	T	7: 25,686,037	L91F	possibly damaging	Het
BC005561	C	A	5: 104,518,952	P447T	probably benign	Het
Bcl2l11	T	A	2: 128,158,301	I188N	probably damaging	Het
Bnc2	A	C	4: 84,291,901	S744A	probably benign	Het
Casr	T	G	16: 36,510,052	M307L	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cd109	TTATA	TTATATATA	9: 78,712,531		probably benign	Het
Cd22	A	G	7: 30,876,024	S198P	probably benign	Het
Cd37	C	A	7: 45,237,198	V99L	probably benign	Het
Cdkn1c	A	G	7: 143,460,227	S161P	possibly damaging	Het
Chil1	G	T	1: 134,184,181		probably null	Het
Col4a2	T	C	8: 11,448,198	F1669S	probably damaging	Het
Dchs2	A	T	3: 83,354,186	H2587L	probably benign	Het
Ddx19a	A	T	8: 110,983,596	M124K	probably benign	Het
Dnhd1	A	T	7: 105,692,726	H1244L	possibly damaging	Het
Dnpep	G	A	1: 75,315,685	P165L	probably damaging	Het
Dpp3	T	C	19: 4,923,144	R141G	probably benign	Het
Dpysl3	T	C	18: 43,329,749	D521G	probably damaging	Het
Dusp4	T	A	8: 34,817,191	M220K	probably damaging	Het
Edc4	T	A	8: 105,887,201	L391Q	probably damaging	Het
Edrf1	A	C	7: 133,671,478	I1221L	probably benign	Het
Elavl2	A	G	4: 91,311,610	L12P	probably benign	Het
Fastkd3	T	A	13: 68,584,952	V464D	probably damaging	Het
Flt4	C	A	11: 49,636,771	N920K	probably benign	Het
Gimap3	T	C	6: 48,765,325	T224A	probably benign	Het
Gm11236	A	G	4: 73,638,948	N6S	possibly damaging	Het
Gm4981	G	A	10: 58,235,889	P168S	probably damaging	Het
Gm9772	T	A	17: 22,006,584	K112*	probably null	Het
Gp5	C	A	16: 30,309,158	V233L		Het
Gpr25	A	T	1: 136,260,288	W196R	probably benign	Het
Hs3st4	G	A	7: 123,983,457	G93S	probably damaging	Het
Igsf10	A	G	3: 59,329,247	L1171S	probably benign	Het
Itgb7	C	T	15: 102,217,924	G526S	possibly damaging	Het
Kcnh8	G	A	17: 52,834,614	C295Y	probably damaging	Het
Klhl8	A	G	5: 103,867,843		probably null	Het
Lamp5	G	T	2: 136,069,134	M262I	probably benign	Het
Lrp5	G	T	19: 3,630,156	R443S	possibly damaging	Het
Lrrc66	G	T	5: 73,607,924	A592E	probably benign	Het
Lrrc66	C	T	5: 73,607,925	A592T	probably benign	Het
Mettl23	T	A	11: 116,854,039	V93D	unknown	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Mkrn2os	G	A	6: 115,585,364	R213W	probably benign	Het
Mrps36	T	A	13: 100,741,207	I22L	probably damaging	Het
Myocd	T	C	11: 65,186,969	R667G	probably benign	Het
Ncapg	T	A	5: 45,695,798	L869M	probably damaging	Het
Ndst3	T	C	3: 123,671,900	N141S	probably benign	Het
Neu2	A	T	1: 87,597,243	R317*	probably null	Het
Nf1	G	T	11: 79,473,342	V1533F	probably damaging	Het
Npy4r	T	A	14: 34,147,126	R68S	possibly damaging	Het
Nr1h5	T	C	3: 102,946,111	H360R	probably null	Het
Olfr1315-ps1	T	C	2: 112,111,096	D52G	probably damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr1411	T	C	1: 92,597,256	S246P	probably damaging	Het
Osmr	A	C	15: 6,852,546	V39G	probably damaging	Het
Plekhm2	T	C	4: 141,632,421	D345G	possibly damaging	Het
Prkaa2	G	T	4: 105,049,403	S165*	probably null	Het
Qser1	A	T	2: 104,762,947	F1575Y	possibly damaging	Het
Rasl11a	C	A	5: 146,845,297	D27E	probably benign	Het
Ret	A	T	6: 118,165,927	Y929*	probably null	Het
Samd9l	T	A	6: 3,373,493	E1256V	probably benign	Het
Scnn1g	A	G	7: 121,742,343	I243V	possibly damaging	Het
Slc6a3	C	T	13: 73,569,912	R514*	probably null	Het
Sorcs3	C	T	19: 48,206,370	A64V	probably benign	Het
Sos1	G	T	17: 80,408,294	N1011K	probably benign	Het
Srbd1	C	A	17: 86,120,687	A373S	possibly damaging	Het
Tas1r1	C	T	4: 152,038,376	W4*	probably null	Het
Tcf15	C	T	2: 152,143,770	R49C	probably damaging	Het
Tex30	A	G	1: 44,087,976	V124A	possibly damaging	Het
Tgif1	T	C	17: 70,844,887	D243G		Het
Tgtp1	T	G	11: 48,987,089	D263A	probably damaging	Het
Themis3	T	A	17: 66,555,869	T365S	probably benign	Het
Tprg	A	T	16: 25,412,912	I213F	probably damaging	Het
Traf4	A	T	11: 78,161,179	C160S	probably damaging	Het
Trio	T	C	15: 27,732,684	E3037G	possibly damaging	Het
Ttbk2	G	T	2: 120,745,430	S1022*	probably null	Het
Ttc6	T	C	12: 57,737,163	Y1803H	probably damaging	Het
Ttn	A	C	2: 76,719,108	Y31742D	probably benign	Het
Ttn	G	T	2: 76,787,251	P16292Q	probably damaging	Het
Ubr5	A	G	15: 38,002,259	V1510A		Het
Vac14	A	G	8: 110,653,237	D389G	probably benign	Het
Vwa8	A	G	14: 79,086,710	D1151G	probably benign	Het
Zfp608	T	C	18: 54,899,194	N558S	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
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
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'- GCAAGAGGCTCTGATTGACAG -3'
(R):5'- TGAGTTGCCAGATCTCCTGC -3'

Sequencing Primer
(F):5'- TTGACAGACACTTCATGGATACCTC -3'
(R):5'- ATCTCCTGCAGGTCCCGAAG -3'

Posted On

2021-11-19