Mutagenetix > Incidental Mutation

Incidental Mutation 'R9559:Krtcap2'

720900

Institutional Source

Beutler Lab

Gene Symbol

Krtcap2

Ensembl Gene

ENSMUSG00000042747

Gene Name

keratinocyte associated protein 2

Synonyms

0610010I12Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89153201-89157036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89154178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 33 (T33I)

Ref Sequence

ENSEMBL: ENSMUSP00000043540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040888] [ENSMUST00000041022] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000125952] [ENSMUST00000143637] [ENSMUST00000168900]

AlphaFold

Q5RL79

Predicted Effect

probably damaging
Transcript: ENSMUST00000040888
AA Change: T33I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043540
Gene: ENSMUSG00000042747
AA Change: T33I

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

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 damaging
Transcript: ENSMUST00000168900
AA Change: T11I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130372
Gene: ENSMUSG00000042747
AA Change: T11I

Domain	Start	End	E-Value	Type
Pfam:Keratin_assoc	1	134	1.2e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,021,019 (GRCm39)		probably null	Het
Ahnak2	C	T	12: 112,749,782 (GRCm39)		probably null	Het
Arhgef37	A	T	18: 61,640,267 (GRCm39)		probably null	Het
Asb14	T	C	14: 26,637,052 (GRCm39)	V598A	possibly damaging	Het
Baz1b	T	A	5: 135,216,532 (GRCm39)	F10Y	probably benign	Het
Bbc3	T	C	7: 16,047,660 (GRCm39)	V128A	probably benign	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Cdc42bpa	G	A	1: 179,939,459 (GRCm39)		probably null	Het
Cfh	G	T	1: 140,030,275 (GRCm39)	P884Q	probably benign	Het
Cltc	T	C	11: 86,613,086 (GRCm39)	Y479C	probably damaging	Het
Col18a1	C	T	10: 76,913,630 (GRCm39)	G477E	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Csmd2	G	T	4: 128,438,561 (GRCm39)	G3047C		Het
Cyb5r3	C	A	15: 83,043,123 (GRCm39)	E190*	probably null	Het
Dnah3	A	T	7: 119,650,951 (GRCm39)	V983D	probably benign	Het
Fcer1a	T	G	1: 173,052,884 (GRCm39)	Y104S	possibly damaging	Het
Fer1l6	A	G	15: 58,429,759 (GRCm39)	T169A	possibly damaging	Het
Gimap9	A	T	6: 48,655,134 (GRCm39)	K240N	probably benign	Het
Gmeb1	A	C	4: 131,953,140 (GRCm39)	V542G	probably benign	Het
Grb10	C	A	11: 11,895,535 (GRCm39)	R318L	probably damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Il18r1	T	A	1: 40,528,793 (GRCm39)	I279K	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm4b	T	C	17: 56,693,228 (GRCm39)	L355P	probably damaging	Het
Kif26a	C	T	12: 112,142,004 (GRCm39)	R753W	probably damaging	Het
Mettl17	G	A	14: 52,129,009 (GRCm39)		probably null	Het
Mov10	A	G	3: 104,708,277 (GRCm39)	F491L		Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Nck2	T	C	1: 43,593,207 (GRCm39)	V138A	probably damaging	Het
Or2h2c	C	T	17: 37,422,509 (GRCm39)	V122M	possibly damaging	Het
Or5ac24	C	A	16: 59,165,368 (GRCm39)	G232V	probably damaging	Het
Or5ak24	A	C	2: 85,260,753 (GRCm39)	V140G	possibly damaging	Het
Or7e173	A	G	9: 19,939,216 (GRCm39)	V6A	probably benign	Het
Osmr	A	G	15: 6,882,027 (GRCm39)	V39A	probably damaging	Het
Plekhh2	A	G	17: 84,899,017 (GRCm39)	H998R	probably damaging	Het
Prb1a	G	A	6: 132,184,388 (GRCm39)	S415F	unknown	Het
Prl3d1	C	T	13: 27,280,470 (GRCm39)	T73I	probably benign	Het
Scgn	A	G	13: 24,137,921 (GRCm39)	L250P	probably damaging	Het
Scyl3	T	C	1: 163,779,773 (GRCm39)	I580T	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,585,041 (GRCm39)	Q14L	probably benign	Het
Slc22a12	T	A	19: 6,587,686 (GRCm39)	N423Y	probably damaging	Het
Tenm4	T	A	7: 96,473,056 (GRCm39)	S951T	probably benign	Het
Ubash3b	G	A	9: 40,954,926 (GRCm39)	P195S	probably damaging	Het
Vmn1r61	A	G	7: 5,613,498 (GRCm39)	F272S	probably damaging	Het
Zbtb41	A	T	1: 139,358,053 (GRCm39)	I454F	probably benign	Het
Zfp112	G	T	7: 23,826,108 (GRCm39)	C696F	probably 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
R4506: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
R9601:Krtcap2	UTSW	3	89,156,449 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCATTTCCTCCGGACAGG -3'
(R):5'- TCCAGATTATTGAAGGCCTGG -3'

Sequencing Primer
(F):5'- AACTTGGGTGTGCAGGGC -3'
(R):5'- TGTAATTAAGGAGAAACTCACGCAAC -3'

Posted On

2022-08-09