Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Krtcap3'

64758

Institutional Source

Beutler Lab

Gene Symbol

Krtcap3

Ensembl Gene

ENSMUSG00000029149

Gene Name

keratinocyte associated protein 3

Synonyms

2010001C09Rik

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R0021 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

31409050-31410541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31410303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 227 (H227R)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201937] [ENSMUST00000201625] [ENSMUST00000202576]

AlphaFold

Q8K177

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000054829
AA Change: H227R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
AA Change: H227R

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114570
AA Change: H227R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110217
Gene: ENSMUSG00000029149
AA Change: H227R

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

probably benign
Transcript: ENSMUST00000201937
AA Change: H227R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
AA Change: H227R

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201625
AA Change: H227R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
AA Change: H227R

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Arhgef25	A	G	10: 127,025,423 (GRCm39)	I43T	probably benign	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
C5ar2	A	G	7: 15,971,601 (GRCm39)	F109L	probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dhx36	T	C	3: 62,385,016 (GRCm39)	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Dock8	T	C	19: 25,140,411 (GRCm39)	I1317T	probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Impg1	A	T	9: 80,317,479 (GRCm39)	L36Q	probably damaging	Het
Lrrc7	A	G	3: 157,866,298 (GRCm39)	Y1148H	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mef2c	C	A	13: 83,804,359 (GRCm39)	L282M	probably damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Nqo2	T	C	13: 34,165,490 (GRCm39)	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Pou2f1	G	A	1: 165,703,587 (GRCm39)	T654M	probably damaging	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Saal1	A	T	7: 46,342,316 (GRCm39)	S376T	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Siah2	T	C	3: 58,583,713 (GRCm39)	H191R	probably benign	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim45	A	T	3: 100,832,736 (GRCm39)	D323V	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
Uqcc4	A	G	17: 25,403,957 (GRCm39)	E99G	possibly damaging	Het
V1rd19	A	T	7: 23,703,029 (GRCm39)	D165V	probably damaging	Het

Other mutations in Krtcap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Krtcap3	APN	5	31,409,167 (GRCm39)	critical splice donor site	probably benign	0.00
IGL02172:Krtcap3	APN	5	31,409,397 (GRCm39)	missense	probably damaging	1.00
R0021:Krtcap3	UTSW	5	31,410,303 (GRCm39)	missense	probably benign	0.00
R0553:Krtcap3	UTSW	5	31,409,147 (GRCm39)	missense	probably benign	0.00
R6258:Krtcap3	UTSW	5	31,409,572 (GRCm39)	missense	probably damaging	0.99
R7418:Krtcap3	UTSW	5	31,409,881 (GRCm39)	missense	probably benign	0.45
R7655:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7656:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7954:Krtcap3	UTSW	5	31,410,015 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAGGAAGGGCTCGTTCCATACC -3'
(R):5'- ACGTGCTCAAGTTCATCAGCCAG -3'

Sequencing Primer
(F):5'- CCATACCCTGGTTGTGTTGAAAAG -3'
(R):5'- AGCCGAGACGCTTACATCTG -3'

Posted On

2013-08-06