Mutagenetix > Incidental Mutation

Incidental Mutation 'R6356:Krtap5-2'

513018

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-2

Ensembl Gene

ENSMUSG00000054759

Gene Name

keratin associated protein 5-2

Synonyms

4833428E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6356 (G1)

Quality Score

214.009

Status

Not validated

Chromosome

Chromosomal Location

141728272-141729742 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 141729119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070557 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067978

SMART Domains

Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759

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: K187R

SMART Domains

Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: K187R

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,292 (GRCm39)	S152T	probably benign	Het
Aass	A	G	6: 23,093,901 (GRCm39)	V140A	probably damaging	Het
Add1	A	G	5: 34,776,740 (GRCm39)	N32S	probably null	Het
Agap2	T	C	10: 126,918,865 (GRCm39)	S414P	unknown	Het
Arhgef38	A	G	3: 132,846,638 (GRCm39)	F376L	probably benign	Het
Cd22	A	T	7: 30,577,127 (GRCm39)	I60N	probably damaging	Het
Cdh23	T	A	10: 60,274,626 (GRCm39)	D488V	probably damaging	Het
Cfap251	G	A	5: 123,392,729 (GRCm39)		probably benign	Het
Cox16	T	G	12: 81,519,115 (GRCm39)	D148A	probably damaging	Het
Dclre1b	G	A	3: 103,715,471 (GRCm39)	T9I	probably damaging	Het
Dennd4c	T	C	4: 86,743,686 (GRCm39)	V1176A	probably benign	Het
Echdc1	A	C	10: 29,220,522 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,784,533 (GRCm39)	K2772E	probably benign	Het
Efnb3	G	A	11: 69,446,966 (GRCm39)	A248V	probably benign	Het
Glud1	A	G	14: 34,033,173 (GRCm39)	R107G	probably benign	Het
Gtf2h4	A	G	17: 35,980,647 (GRCm39)	S279P	probably damaging	Het
Hectd1	A	G	12: 51,791,402 (GRCm39)	C2579R	probably damaging	Het
Igkv15-103	A	G	6: 68,414,441 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Lcn11	G	T	2: 25,668,132 (GRCm39)	G97*	probably null	Het
Lrrtm3	G	A	10: 63,765,943 (GRCm39)	T548M	probably benign	Het
Map3k2	A	T	18: 32,345,023 (GRCm39)	T283S	probably damaging	Het
Mast4	T	C	13: 102,872,493 (GRCm39)	K2292E	possibly damaging	Het
Med23	G	T	10: 24,764,311 (GRCm39)	C98F	probably damaging	Het
Morc1	T	A	16: 48,257,652 (GRCm39)	F26Y	probably damaging	Het
Muc5ac	T	A	7: 141,366,416 (GRCm39)	M2160K	probably benign	Het
Myocd	T	C	11: 65,109,396 (GRCm39)		probably null	Het
Nup160	T	A	2: 90,542,279 (GRCm39)		probably null	Het
Obi1	A	G	14: 104,716,313 (GRCm39)	S687P	probably damaging	Het
Olr1	A	T	6: 129,470,522 (GRCm39)	L215Q	probably benign	Het
Or5ak23	T	A	2: 85,245,031 (GRCm39)	Q64L	probably damaging	Het
Or6c216	T	A	10: 129,678,477 (GRCm39)	S145C	probably benign	Het
Pik3c2a	T	C	7: 115,947,440 (GRCm39)	K1414R	possibly damaging	Het
Ppfibp2	T	C	7: 107,280,976 (GRCm39)	V96A	probably benign	Het
Prim1	T	A	10: 127,859,704 (GRCm39)	Y299N	probably damaging	Het
Rsf1	T	C	7: 97,311,141 (GRCm39)	S624P	probably benign	Het
Samd4b	A	T	7: 28,101,018 (GRCm39)	I687N	probably damaging	Het
Sbf2	A	T	7: 109,971,830 (GRCm39)	F801L	probably damaging	Het
St6gal2	T	C	17: 55,789,014 (GRCm39)	I16T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trim8	T	G	19: 46,503,797 (GRCm39)	S450A	probably benign	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Vmn2r24	A	G	6: 123,783,368 (GRCm39)	S523G	possibly damaging	Het
Vmn2r52	T	A	7: 9,902,926 (GRCm39)	M501L	probably benign	Het
Vmn2r68	C	T	7: 84,883,048 (GRCm39)	V235M	possibly damaging	Het
Zfhx3	G	A	8: 109,673,251 (GRCm39)	V1434M	probably damaging	Het
Zmym5	A	T	14: 57,031,622 (GRCm39)	N495K	possibly 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
R6364:Krtap5-2	UTSW	7	141,728,800 (GRCm39)	nonsense	probably null
R6593:Krtap5-2	UTSW	7	141,728,697 (GRCm39)	missense	unknown
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'- CTTGCAACAGCTGGATTGGC -3'
(R):5'- AAGGGAGGCTGTAGTTCCTG -3'

Sequencing Primer
(F):5'- GGAACTACAGCCTCCCTTG -3'
(R):5'- TCCTGTGGAGGCTGCAAG -3'

Posted On

2018-04-27