Mutagenetix > Incidental Mutation

Incidental Mutation 'R4507:Krtcap2'

332044

Institutional Source

Beutler Lab

Gene Symbol

Krtcap2

Ensembl Gene

ENSMUSG00000042747

Gene Name

keratinocyte associated protein 2

Synonyms

0610010I12Rik

MMRRC Submission

041756-MU

Accession Numbers

Essential gene?

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

Stock #

R4507 (G1)

Quality Score

207

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,747,601 (GRCm39)	Y83C	probably damaging	Het
Abca8a	A	T	11: 109,953,851 (GRCm39)	I863N	probably benign	Het
Abr	A	G	11: 76,342,683 (GRCm39)	I608T	possibly damaging	Het
Aebp1	A	G	11: 5,820,565 (GRCm39)	Y485C	probably damaging	Het
Akap5	A	G	12: 76,374,681 (GRCm39)	K38E	possibly damaging	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Bmp3	A	T	5: 99,027,633 (GRCm39)	I418L	probably damaging	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Catsperb	T	A	12: 101,447,087 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Clic1	A	G	17: 35,271,761 (GRCm39)	T52A	probably benign	Het
Dnah7c	C	T	1: 46,805,771 (GRCm39)	R3407C	probably damaging	Het
Elp2	A	G	18: 24,759,177 (GRCm39)		probably null	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Folh1	T	C	7: 86,406,216 (GRCm39)	T286A	probably benign	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Hcn2	T	A	10: 79,560,620 (GRCm39)	I317N	probably damaging	Het
Hectd1	A	T	12: 51,837,276 (GRCm39)	L760I	probably damaging	Het
Hoxc10	A	T	15: 102,875,387 (GRCm39)	Y32F	probably damaging	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Mdh1	C	T	11: 21,508,470 (GRCm39)	V291M	probably benign	Het
Myh14	T	C	7: 44,279,415 (GRCm39)	T963A	probably benign	Het
Mylk	T	C	16: 34,774,065 (GRCm39)	F1305L	probably benign	Het
Or4c10	C	T	2: 89,760,695 (GRCm39)	P181S	possibly damaging	Het
Or8b9	T	C	9: 37,766,201 (GRCm39)	F29S	possibly damaging	Het
Parp11	A	G	6: 127,451,246 (GRCm39)	R99G	probably damaging	Het
Phactr1	C	A	13: 43,250,270 (GRCm39)	T522N	probably damaging	Het
Ptprs	T	C	17: 56,726,014 (GRCm39)	T1423A	probably damaging	Het
Ralgapa2	T	C	2: 146,195,168 (GRCm39)	I1253V	probably benign	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Srrm4	T	C	5: 116,584,612 (GRCm39)	Y486C	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tec	T	C	5: 72,917,701 (GRCm39)	D506G	probably damaging	Het
Trabd	A	G	15: 88,969,833 (GRCm39)	I316V	probably damaging	Het
Ubr5	A	T	15: 38,013,786 (GRCm39)	F952I	probably damaging	Het
Vat1l	T	C	8: 114,932,556 (GRCm39)	L34P	probably benign	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
R4506: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'- ACCATTCCTCCTATTAGAAGCTTGC -3'
(R):5'- CCAACGTGGACTTGCTTTAC -3'

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

Posted On

2015-07-21