Mutagenetix > Incidental Mutations

Incidental Mutation 'R0560:Krtcap2'

45821

Institutional Source

Beutler Lab

Gene Symbol

Krtcap2

Ensembl Gene

ENSMUSG00000042747

Gene Name

keratinocyte associated protein 2

Synonyms

0610010I12Rik

MMRRC Submission

038752-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R0560 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89245966-89249906 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 89249142 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040888] [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000125952] [ENSMUST00000143637] [ENSMUST00000168900] [ENSMUST00000168900]

AlphaFold

Q5RL79

Predicted Effect

probably null
Transcript: ENSMUST00000040888

SMART Domains

Protein: ENSMUSP00000043540
Gene: ENSMUSG00000042747

Domain	Start	End	E-Value	Type
Pfam:Keratin_assoc	87	215	2.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041022

SMART Domains

Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	271	395	3e-13	BLAST
FN3	430	515	2.03e-2	SMART
low complexity region	561	571	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090924

SMART Domains

Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	20	120	1.92e-6	SMART
BBOX	209	250	9.59e-7	SMART
Blast:BBC	258	382	8e-13	BLAST
FN3	417	502	2.03e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107464

SMART Domains

Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	10	110	1.92e-6	SMART
BBOX	199	240	9.59e-7	SMART
Blast:BBC	248	372	2e-13	BLAST
FN3	407	492	2.03e-2	SMART
low complexity region	538	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132818

Predicted Effect

probably benign
Transcript: ENSMUST00000143637

SMART Domains

Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	270	391	4e-11	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000168900

SMART Domains

Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747

Domain	Start	End	E-Value	Type
Pfam:Keratin_assoc	1	134	1.2e-61	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168900

SMART Domains

Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747

Domain	Start	End	E-Value	Type
Pfam:Keratin_assoc	1	134	1.2e-61	PFAM

Meta Mutation Damage Score

0.9582

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (26/26)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,254,498	L230Q	probably damaging	Het
AI464131	G	A	4: 41,498,167	R488W	probably damaging	Het
Apob	T	C	12: 8,005,101	Y1334H	probably damaging	Het
Arsb	A	G	13: 93,790,198	T159A	possibly damaging	Het
Asb18	A	C	1: 90,014,528	V17G	probably damaging	Het
Bicd1	A	G	6: 149,511,962	K284E	probably benign	Het
Bspry	A	G	4: 62,486,449	R161G	probably damaging	Het
Ccdc138	A	G	10: 58,575,717	T636A	probably damaging	Het
Cubn	A	T	2: 13,428,680	W1140R	probably damaging	Het
Cyp2t4	A	G	7: 27,158,511	T479A	probably damaging	Het
Dtx3l	A	G	16: 35,932,935	S434P	probably damaging	Het
Duox2	A	G	2: 122,291,554	V611A	probably benign	Het
Epb41l3	T	G	17: 69,274,897		probably null	Het
Fam161b	C	T	12: 84,357,718	D63N	probably damaging	Het
Gm5422	G	A	10: 31,249,244		noncoding transcript	Het
Gpr158	A	T	2: 21,825,274	D710V	probably damaging	Het
Mtrf1	T	A	14: 79,406,850	D199E	probably damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Ncf2	T	A	1: 152,821,522	Y47N	probably damaging	Het
Ovgp1	T	C	3: 105,986,410		probably benign	Het
Siglec1	G	T	2: 131,070,346	T1692N	probably benign	Het
Slc10a2	T	C	8: 5,089,092	N284S	probably benign	Het
Slfn3	T	C	11: 83,213,152	F283S	probably damaging	Het
Trank1	T	C	9: 111,391,086	F2297S	possibly damaging	Het
Vmn2r69	A	G	7: 85,409,714		probably null	Het
Vps13d	T	C	4: 145,054,190	E3957G	probably damaging	Het

Other mutations in Krtcap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1930:Krtcap2	UTSW	3	89247076	missense	probably damaging	1.00
R4504:Krtcap2	UTSW	3	89246256	unclassified	probably benign
R4505:Krtcap2	UTSW	3	89246256	unclassified	probably benign
R4506:Krtcap2	UTSW	3	89246256	unclassified	probably benign
R4507:Krtcap2	UTSW	3	89246256	unclassified	probably benign
R5109:Krtcap2	UTSW	3	89246778	missense	probably benign
R5392:Krtcap2	UTSW	3	89246879	missense	probably benign	0.01
R6363:Krtcap2	UTSW	3	89249106	missense	probably damaging	1.00
R9393:Krtcap2	UTSW	3	89246271	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGTTTTCAAGCAGGTTCCTCACAG -3'
(R):5'- TGTTGCTACTAGGGCAGACACCAG -3'

Sequencing Primer
(F):5'- GGTTCCTCACAGGGTTCTAGAC -3'
(R):5'- tggggagatggctcagg -3'

Posted On

2013-06-11