Mutagenetix > Incidental Mutation

Incidental Mutation 'R4504:Krtcap2'

331919

Institutional Source

Beutler Lab

Gene Symbol

Krtcap2

Ensembl Gene

ENSMUSG00000042747

Gene Name

keratinocyte associated protein 2

Synonyms

0610010I12Rik

MMRRC Submission

041755-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R4504 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

89153201-89157036 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 89153563 bp (GRCm39)

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]

AlphaFold

Q5RL79

Predicted Effect

probably benign
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 benign
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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	G	14: 44,407,899 (GRCm39)	S45P	probably damaging	Het
Adgrg4	C	T	X: 55,961,802 (GRCm39)	R1124C	possibly damaging	Het
Anxa13	T	C	15: 58,228,052 (GRCm39)		noncoding transcript	Het
Arhgap32	C	A	9: 32,093,135 (GRCm39)		probably null	Het
Carm1	T	C	9: 21,480,822 (GRCm39)	F99L	probably damaging	Het
Dennd1b	A	G	1: 139,013,665 (GRCm39)	E253G	possibly damaging	Het
Dsg4	A	G	18: 20,594,493 (GRCm39)	I541V	probably benign	Het
Dstyk	A	G	1: 132,362,127 (GRCm39)	T186A	possibly damaging	Het
Ear1	A	T	14: 44,056,721 (GRCm39)	V49D	probably benign	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fndc8	T	A	11: 82,783,226 (GRCm39)	M69K	probably benign	Het
Golga1	T	C	2: 38,913,466 (GRCm39)	I482V	probably benign	Het
Hivep3	G	A	4: 119,590,990 (GRCm39)		probably benign	Het
Igkv13-85	A	G	6: 68,907,356 (GRCm39)	F82L	probably damaging	Het
Itih1	G	A	14: 30,657,842 (GRCm39)	R410C	probably damaging	Het
Kcnc2	T	C	10: 112,291,699 (GRCm39)	W296R	probably damaging	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Kif3b	T	C	2: 153,165,564 (GRCm39)		probably null	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Notch1	A	G	2: 26,362,189 (GRCm39)	V1022A	probably benign	Het
Npc1l1	A	G	11: 6,178,741 (GRCm39)	L223S	possibly damaging	Het
Or11m3	T	C	15: 98,396,015 (GRCm39)	F221L	probably benign	Het
Or4c10	C	T	2: 89,760,695 (GRCm39)	P181S	possibly damaging	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pbxip1	A	G	3: 89,353,690 (GRCm39)	D281G	possibly damaging	Het
Pcdhga8	G	C	18: 37,949,816 (GRCm39)	V411L	probably damaging	Het
Pcsk5	C	T	19: 17,429,319 (GRCm39)	C1553Y	probably damaging	Het
Pdgfc	A	C	3: 81,082,298 (GRCm39)	M164L	probably benign	Het
Pdzd8	T	C	19: 59,333,880 (GRCm39)	Y47C	probably damaging	Het
Pip5k1c	T	A	10: 81,150,945 (GRCm39)	I633N	probably damaging	Het
Pkn1	G	A	8: 84,419,556 (GRCm39)	R16*	probably null	Het
Pole2	A	G	12: 69,269,242 (GRCm39)	V85A	probably benign	Het
Ppp4c	A	C	7: 126,386,637 (GRCm39)	L150R	probably damaging	Het
Pramel25	G	C	4: 143,520,553 (GRCm39)	E102Q	probably benign	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Rnf144a	T	A	12: 26,377,302 (GRCm39)	R92S	probably benign	Het
Sbno2	C	A	10: 79,896,326 (GRCm39)	R898L	possibly damaging	Het
Scnn1b	A	C	7: 121,511,698 (GRCm39)	N370T	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Vps13a	T	C	19: 16,672,866 (GRCm39)	E1302G	possibly damaging	Het

Other mutations in Krtcap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0560:Krtcap2	UTSW	3	89,156,449 (GRCm39)	critical splice donor site	probably null
R1930:Krtcap2	UTSW	3	89,154,383 (GRCm39)	missense	probably damaging	1.00
R4505:Krtcap2	UTSW	3	89,153,563 (GRCm39)	unclassified	probably benign
R4506:Krtcap2	UTSW	3	89,153,563 (GRCm39)	unclassified	probably benign
R4507:Krtcap2	UTSW	3	89,153,563 (GRCm39)	unclassified	probably benign
R5109:Krtcap2	UTSW	3	89,154,085 (GRCm39)	missense	probably benign
R5392:Krtcap2	UTSW	3	89,154,186 (GRCm39)	missense	probably benign	0.01
R6363:Krtcap2	UTSW	3	89,156,413 (GRCm39)	missense	probably damaging	1.00
R9393:Krtcap2	UTSW	3	89,153,578 (GRCm39)	unclassified	probably benign
R9559:Krtcap2	UTSW	3	89,154,178 (GRCm39)	missense	probably damaging	0.97
R9601:Krtcap2	UTSW	3	89,156,449 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCCTATTAGAAGCTTGCATCG -3'
(R):5'- CCAACGTGGACTTGCTTTAC -3'

Sequencing Primer
(F):5'- AGAAGCTTGCATCGATTCCTG -3'
(R):5'- AACGTGGACTTGCTTTACTTCTTC -3'

Posted On

2015-07-21