Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Krtap5-2'

523472

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-2

Ensembl Gene

ENSMUSG00000054759

Gene Name

keratin associated protein 5-2

Synonyms

4833428E21Rik

MMRRC Submission

044717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6593 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

141728272-141729742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141728697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 328 (C328S)

Ref Sequence

ENSEMBL: ENSMUSP00000140784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000067978
AA Change: C150S

SMART Domains

Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: C150S

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	129	173	4.4e-10	PFAM
Pfam:Keratin_B2_2	144	188	1.8e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000190456
AA Change: C328S

SMART Domains

Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: C328S

Domain	Start	End	E-Value	Type
low complexity region	2	358	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,903,491 (GRCm39)	N1047K	probably benign	Het
AI597479	C	A	1: 43,150,408 (GRCm39)	Q173K	probably damaging	Het
Arhgef10	T	C	8: 15,012,522 (GRCm39)	L282P	probably damaging	Het
Arhgef10	T	C	8: 15,012,564 (GRCm39)	I296T	possibly damaging	Het
Atg2b	A	G	12: 105,611,107 (GRCm39)	S1275P	probably damaging	Het
Cep290	T	C	10: 100,344,638 (GRCm39)	M485T	probably benign	Het
Clca3a2	A	G	3: 144,514,338 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,095,226 (GRCm39)	S731N	probably benign	Het
Clic6	A	G	16: 92,325,005 (GRCm39)	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,600,192 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,200,720 (GRCm39)	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,292,666 (GRCm39)	Y169C	probably damaging	Het
Elavl3	C	T	9: 21,929,843 (GRCm39)	V354M	possibly damaging	Het
Farp2	A	C	1: 93,497,662 (GRCm39)	I231L	possibly damaging	Het
Gcc2	T	A	10: 58,107,329 (GRCm39)	M755K	probably damaging	Het
Gpr88	T	C	3: 116,046,273 (GRCm39)	T13A	unknown	Het
Gstm3	T	A	3: 107,875,511 (GRCm39)	N40Y	probably benign	Het
Lpar1	A	T	4: 58,486,605 (GRCm39)	V222E	probably damaging	Het
Neto2	A	G	8: 86,396,175 (GRCm39)	S192P	probably damaging	Het
Odad1	T	A	7: 45,596,808 (GRCm39)	D378E	probably damaging	Het
Or52n3	C	T	7: 104,530,640 (GRCm39)	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,815,134 (GRCm39)	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,645,790 (GRCm39)	Q264*	probably null	Het
Ptgs2	G	A	1: 149,976,784 (GRCm39)	D6N	possibly damaging	Het
Rasef	G	T	4: 73,663,327 (GRCm39)	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,216,168 (GRCm39)	L193S	probably damaging	Het
Rigi	T	C	4: 40,226,651 (GRCm39)	I169V	probably benign	Het
Sec24d	T	C	3: 123,147,061 (GRCm39)	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,063,219 (GRCm39)	M1T	probably null	Het
Stra6	A	G	9: 58,059,262 (GRCm39)	T542A	probably benign	Het
Stt3b	T	C	9: 115,081,579 (GRCm39)	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,455,417 (GRCm39)	K626R	possibly damaging	Het
Washc2	T	A	6: 116,236,210 (GRCm39)	I1227N	probably damaging	Het
Xpo7	G	A	14: 70,919,802 (GRCm39)	A671V	probably damaging	Het
Zfp799	A	G	17: 33,038,764 (GRCm39)	Y501H	probably damaging	Het

Other mutations in Krtap5-2

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01958:Krtap5-2	APN	7	141,729,459 (GRCm39)	nonsense	probably null
IGL02064:Krtap5-2	APN	7	141,729,468 (GRCm39)	missense	unknown
IGL03214:Krtap5-2	APN	7	141,728,751 (GRCm39)	missense	unknown
IGL03326:Krtap5-2	APN	7	141,729,100 (GRCm39)	nonsense	probably null
R1196:Krtap5-2	UTSW	7	141,728,620 (GRCm39)	nonsense	probably null
R2327:Krtap5-2	UTSW	7	141,728,748 (GRCm39)	missense	unknown
R5166:Krtap5-2	UTSW	7	141,728,721 (GRCm39)	missense	unknown
R5723:Krtap5-2	UTSW	7	141,728,742 (GRCm39)	missense	unknown
R6356:Krtap5-2	UTSW	7	141,729,119 (GRCm39)	intron	probably benign
R6364:Krtap5-2	UTSW	7	141,728,800 (GRCm39)	nonsense	probably null
R7193:Krtap5-2	UTSW	7	141,728,980 (GRCm39)	small deletion	probably benign
R7740:Krtap5-2	UTSW	7	141,728,699 (GRCm39)	missense	unknown
R7748:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R7753:Krtap5-2	UTSW	7	141,729,136 (GRCm39)	small deletion	probably benign
R8307:Krtap5-2	UTSW	7	141,728,586 (GRCm39)	missense	unknown
R8446:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R8767:Krtap5-2	UTSW	7	141,728,845 (GRCm39)	critical splice acceptor site	probably benign
R9100:Krtap5-2	UTSW	7	141,728,836 (GRCm39)	critical splice acceptor site	probably benign
R9689:Krtap5-2	UTSW	7	141,729,029 (GRCm39)	missense	unknown
Z1177:Krtap5-2	UTSW	7	141,729,518 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGGAGAAGGAAGCCTTGAACTTG -3'
(R):5'- TGCAAGGGAGGCTGTAGTTC -3'

Sequencing Primer
(F):5'- GCCTTGAACTTGAGTAGGAAAGTC -3'
(R):5'- CAAGGGAGGCTGTAGTTCCTGTG -3'

Posted On

2018-06-22