Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Krt2'

700195

Institutional Source

Beutler Lab

Gene Symbol

Krt2

Ensembl Gene

ENSMUSG00000064201

Gene Name

keratin 2

Synonyms

Krt2-17, Krt2-2, Krt2e

Accession Numbers

Is this an essential gene?

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

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101810689-101818169 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101817513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 197 (S197A)

Ref Sequence

ENSEMBL: ENSMUSP00000023712 (fasta)

Gene Model

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

AlphaFold

Q3TTY5

Predicted Effect

probably benign
Transcript: ENSMUST00000023712
AA Change: S197A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023712
Gene: ENSMUSG00000064201
AA Change: S197A

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792	F274I	probably damaging	Het
Aen	T	A	7: 78,902,359	D22E	probably damaging	Het
Appl1	T	C	14: 26,923,735	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
BC027072	A	G	17: 71,750,222	L820P	probably damaging	Het
Bsn	T	C	9: 108,112,260	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,380,882	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cd55b	A	T	1: 130,422,882	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073	N759S	probably benign	Het
Chrm3	C	A	13: 9,878,443	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,126,251	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,571,084	E326*	probably null	Het
Def8	A	G	8: 123,459,578	E352G	probably benign	Het
Dmbt1	A	G	7: 131,037,912	D60G	probably benign	Het
Dock3	A	G	9: 106,930,024	L1368P	probably damaging	Het
Dytn	A	T	1: 63,647,452	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007	K446R	probably benign	Het
Fam196a	A	T	7: 134,918,710	Y30*	probably null	Het
Fbxo22	T	C	9: 55,209,158	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,608,033	S1025P	possibly damaging	Het
Gif	G	A	19: 11,760,384	W386*	probably null	Het
Gja8	C	T	3: 96,919,348	V333M	possibly damaging	Het
Glis1	T	C	4: 107,568,130	S313P	probably benign	Het
Gm11487	C	T	4: 73,401,448	A264T	probably benign	Het
Gm3376	T	G	Y: 3,774,819	D5E	probably damaging	Het
Grid2ip	G	A	5: 143,373,439	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,280,639	E246G	probably benign	Het
Ibtk	A	G	9: 85,703,649		probably null	Het
Ifit1	A	G	19: 34,647,836	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515	D95G	probably benign	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Ilkap	A	C	1: 91,387,215	I142S	probably benign	Het
Kctd14	C	G	7: 97,454,897	P53R	unknown	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Lpin1	A	T	12: 16,538,482	S902R	unknown	Het
Mapk13	T	C	17: 28,775,558	I141T	probably damaging	Het
Micall2	A	G	5: 139,716,072	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289	S738A	probably benign	Het
Muc20	T	G	16: 32,793,214	T598P	probably damaging	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864	N367K	probably benign	Het
Nme8	T	G	13: 19,690,214	I139L	probably benign	Het
Odam	T	C	5: 87,886,598	F46L	probably benign	Het
Olfr559	C	A	7: 102,723,588	V301F	possibly damaging	Het
Olfr8	G	A	10: 78,956,095	D297N	possibly damaging	Het
Pi4ka	A	G	16: 17,281,924	I1945T		Het
Rell1	T	C	5: 63,939,762		probably benign	Het
Ripk3	A	G	14: 55,785,846	F134S	probably benign	Het
Sclt1	A	T	3: 41,711,196	W146R	probably benign	Het
Slc18a2	T	C	19: 59,273,215	M178T	probably benign	Het
Slc24a5	G	T	2: 125,080,648	G110V	probably damaging	Het
Slc38a10	T	A	11: 120,105,955	D772V	probably benign	Het
Slc9c1	T	C	16: 45,577,912	L680P	possibly damaging	Het
Tll2	T	A	19: 41,104,997	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnrc18	G	T	5: 142,787,637	A479D		Het
Topaz1	T	A	9: 122,767,032	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,710,310	D465V	possibly damaging	Het
Xndc1	T	A	7: 102,073,269	V47E	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
R9051:Krt2	UTSW	15	101817882	missense	unknown
R9118:Krt2	UTSW	15	101814541	missense	probably damaging	0.99
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'- CAGTGGCCTCATCAATGACTC -3'
(R):5'- ATCTCTAGTAGCGTGGCTGG -3'

Sequencing Primer
(F):5'- CCTCATCAATGACTCTTGAGGGAG -3'
(R):5'- TGGCAACAGTGGTGGCTAC -3'

Posted On

2022-02-07