Mutagenetix > Incidental Mutation

Incidental Mutation 'R9578:Krt5'

722433

Institutional Source

Beutler Lab

Gene Symbol

Krt5

Ensembl Gene

ENSMUSG00000061527

Gene Name

keratin 5

Synonyms

Tfip8, Krt2-5, 3300001P10Rik, K5

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101615505-101621333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101620153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 188 (K188R)

Ref Sequence

ENSEMBL: ENSMUSP00000023709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023709]

AlphaFold

Q922U2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023709
AA Change: K188R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: K188R

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	158	3.6e-44	PFAM
Filament	161	474	1.58e-174	SMART
low complexity region	483	577	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,505 (GRCm39)	G234S	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Aldh8a1	A	G	10: 21,253,281 (GRCm39)	I14M	probably damaging	Het
Arhgap11a	A	G	2: 113,670,125 (GRCm39)	S333P	possibly damaging	Het
Atp1b3	A	T	9: 96,220,754 (GRCm39)	D180E	probably benign	Het
B3gnt8	T	C	7: 25,328,089 (GRCm39)	L173P	probably damaging	Het
Cabin1	A	G	10: 75,590,185 (GRCm39)	F37S	probably damaging	Het
Carmil3	G	T	14: 55,741,293 (GRCm39)		probably null	Het
Cfi	G	T	3: 129,659,024 (GRCm39)	M327I	probably benign	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col7a1	G	A	9: 108,789,350 (GRCm39)	G854D	unknown	Het
Cux1	A	T	5: 136,282,919 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,602,234 (GRCm39)	N23K	probably damaging	Het
Dclre1a	A	G	19: 56,528,734 (GRCm39)	I807T	probably damaging	Het
Dnah14	T	C	1: 181,502,007 (GRCm39)	F1770L	probably benign	Het
Dnajc13	A	G	9: 104,115,726 (GRCm39)	F28L	probably benign	Het
Dtna	A	G	18: 23,728,612 (GRCm39)	D269G	probably damaging	Het
Dusp4	G	T	8: 35,274,822 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Gas1	T	C	13: 60,323,905 (GRCm39)	D243G	possibly damaging	Het
Ggnbp2	A	G	11: 84,744,989 (GRCm39)	C178R	probably benign	Het
Gm12185	T	A	11: 48,806,408 (GRCm39)	N261I	probably benign	Het
Grm4	A	T	17: 27,669,183 (GRCm39)	F362I	possibly damaging	Het
Icos	T	A	1: 61,032,871 (GRCm39)	N23K	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Mindy3	C	T	2: 12,361,715 (GRCm39)		probably null	Het
Ncdn	C	T	4: 126,645,795 (GRCm39)	R38H	probably damaging	Het
Nol9	A	G	4: 152,125,706 (GRCm39)	K219R	probably benign	Het
Opalin	A	T	19: 41,060,668 (GRCm39)	S2R	probably damaging	Het
Or8g35	A	T	9: 39,381,201 (GRCm39)	S274T	probably damaging	Het
Pask	G	A	1: 93,263,390 (GRCm39)	S122L	probably benign	Het
Pcdha11	T	C	18: 37,140,176 (GRCm39)	S602P	probably damaging	Het
Pclo	A	G	5: 14,816,753 (GRCm39)	K1271R		Het
Piezo1	T	C	8: 123,224,214 (GRCm39)	H763R		Het
Pigr	A	G	1: 130,777,350 (GRCm39)	K719E	probably benign	Het
Piwil4	A	T	9: 14,638,790 (GRCm39)	V245E	probably damaging	Het
Plcb4	A	G	2: 135,829,444 (GRCm39)	M925V	probably benign	Het
Pomt1	G	A	2: 32,133,543 (GRCm39)		probably null	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Rapgef4	A	T	2: 72,026,052 (GRCm39)	H359L	probably damaging	Het
Rfesd	C	T	13: 76,156,299 (GRCm39)	V36I	possibly damaging	Het
Rims1	G	A	1: 22,523,823 (GRCm39)	T421M	probably damaging	Het
Serpinf2	T	A	11: 75,327,615 (GRCm39)	H150L	probably benign	Het
Syt10	A	T	15: 89,675,122 (GRCm39)	M408K	possibly damaging	Het
Tcea1	T	A	1: 4,961,021 (GRCm39)		probably null	Het
Tia1	T	C	6: 86,407,347 (GRCm39)	*387R	probably null	Het
Top3a	A	C	11: 60,647,517 (GRCm39)	V186G	probably damaging	Het
Upk3b	T	A	5: 136,067,736 (GRCm39)	S27R	unknown	Het
Usp18	A	G	6: 121,239,726 (GRCm39)	S274G	probably benign	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn1r72	T	C	7: 11,404,347 (GRCm39)	I34V	probably benign	Het
Vmn2r74	T	C	7: 85,606,101 (GRCm39)	D415G	probably benign	Het
Zfp54	A	G	17: 21,655,186 (GRCm39)	Y560C	probably damaging	Het

Other mutations in Krt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Krt5	APN	15	101,621,076 (GRCm39)	missense	unknown
IGL01949:Krt5	APN	15	101,619,048 (GRCm39)	missense	probably benign	0.14
IGL03013:Krt5	APN	15	101,620,103 (GRCm39)	missense	probably benign	0.00
IGL03286:Krt5	APN	15	101,615,983 (GRCm39)	missense	unknown
R1598:Krt5	UTSW	15	101,620,876 (GRCm39)	missense	probably benign	0.38
R1697:Krt5	UTSW	15	101,619,020 (GRCm39)	missense	probably benign	0.06
R1967:Krt5	UTSW	15	101,620,094 (GRCm39)	missense	probably benign	0.21
R2143:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R2438:Krt5	UTSW	15	101,620,093 (GRCm39)	missense	probably benign	0.10
R4633:Krt5	UTSW	15	101,620,042 (GRCm39)	missense	probably damaging	0.98
R4771:Krt5	UTSW	15	101,617,494 (GRCm39)	missense	probably damaging	0.99
R4918:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R5622:Krt5	UTSW	15	101,617,470 (GRCm39)	missense	probably damaging	1.00
R6797:Krt5	UTSW	15	101,621,076 (GRCm39)	missense	unknown
R6873:Krt5	UTSW	15	101,621,312 (GRCm39)	start gained	probably benign
R7808:Krt5	UTSW	15	101,617,453 (GRCm39)	missense	probably benign	0.01
R8010:Krt5	UTSW	15	101,620,791 (GRCm39)	missense	probably damaging	1.00
R8252:Krt5	UTSW	15	101,620,794 (GRCm39)	missense	probably damaging	1.00
R8696:Krt5	UTSW	15	101,618,742 (GRCm39)	missense	probably damaging	1.00
R8889:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R8892:Krt5	UTSW	15	101,619,185 (GRCm39)	missense	probably benign	0.01
R9468:Krt5	UTSW	15	101,615,980 (GRCm39)	missense	unknown
R9696:Krt5	UTSW	15	101,616,141 (GRCm39)	missense	unknown
X0019:Krt5	UTSW	15	101,620,803 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAGATCCTGACGCCTCTTTC -3'
(R):5'- ATCAGTGCCGATTGTCCCTC -3'

Sequencing Primer
(F):5'- ACATCACAGCTCACTTGTTCTTGTAG -3'
(R):5'- GATTGTCCCTCACAGGTCACAG -3'

Posted On

2022-08-09