Mutagenetix > Incidental Mutation

Incidental Mutation 'R4506:Krtcap2'

332003

Institutional Source

Beutler Lab

Gene Symbol

Krtcap2

Ensembl Gene

ENSMUSG00000042747

Gene Name

keratinocyte associated protein 2

Synonyms

0610010I12Rik

MMRRC Submission

041584-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R4506 (G1)

Quality Score

225

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: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,685,087 (GRCm39)	P137T	probably damaging	Het
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Ace	T	A	11: 105,867,492 (GRCm39)	L152Q	probably damaging	Het
Adam19	G	A	11: 46,009,271 (GRCm39)	D232N	possibly damaging	Het
Anapc4	A	T	5: 52,993,072 (GRCm39)	N61I	possibly damaging	Het
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Atr	T	A	9: 95,747,290 (GRCm39)	C191S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cnot6l	A	T	5: 96,234,033 (GRCm39)	V326E	possibly damaging	Het
Fcer2a	A	T	8: 3,738,603 (GRCm39)		probably null	Het
Fgfr3	A	G	5: 33,887,343 (GRCm39)	T221A	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Ip6k3	A	T	17: 27,364,154 (GRCm39)	L298Q	possibly damaging	Het
Itpr1	A	G	6: 108,409,647 (GRCm39)	D1727G	probably damaging	Het
Kdm2b	T	C	5: 123,026,688 (GRCm39)	T589A	possibly damaging	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Nktr	T	A	9: 121,577,949 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,521 (GRCm39)	C143*	probably null	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Parp4	T	A	14: 56,889,761 (GRCm39)	N1847K	unknown	Het
Pcdhga8	G	C	18: 37,949,816 (GRCm39)	V411L	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Slc7a5	A	T	8: 122,614,234 (GRCm39)		probably null	Het
Slc7a9	A	T	7: 35,152,845 (GRCm39)	T88S	probably damaging	Het
Tbrg1	T	A	9: 37,565,691 (GRCm39)	E87V	probably damaging	Het
Tnfsf4	T	C	1: 161,244,745 (GRCm39)	S145P	probably damaging	Het
Tomm34	C	A	2: 163,896,292 (GRCm39)		probably null	Het
Trpv3	A	G	11: 73,186,150 (GRCm39)	N647S	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Vmn2r23	A	T	6: 123,679,884 (GRCm39)	Q35H	probably damaging	Het
Wdtc1	C	T	4: 133,036,130 (GRCm39)	V137M	probably damaging	Het
Zfp276	G	A	8: 123,991,666 (GRCm39)		probably null	Het
Zfp90	C	T	8: 107,151,496 (GRCm39)	P403L	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
R4504:Krtcap2	UTSW	3	89,153,563 (GRCm39)	unclassified	probably benign
R4505: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'- GCCAACGTGGACTTGCTTTAC -3'

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

Posted On

2015-07-21