Mutagenetix > Incidental Mutation

Incidental Mutation 'R6124:Kplce'

485858

Institutional Source

Beutler Lab

Gene Symbol

Kplce

Ensembl Gene

ENSMUSG00000090314

Gene Name

KPRP N-terminal and LCE C-terminal like protein

Synonyms

2310050C09Rik

MMRRC Submission

044271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6124 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92775666-92777512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92776365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 106 (P106Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163439]

AlphaFold

G5E8Z3

Predicted Effect

probably damaging
Transcript: ENSMUST00000163439
AA Change: P106Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126921
Gene: ENSMUSG00000090314
AA Change: P106Q

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
internal_repeat_1	47	96	3.58e-12	PROSPERO
internal_repeat_1	104	151	3.58e-12	PROSPERO
low complexity region	152	171	N/A	INTRINSIC
low complexity region	220	258	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,622 (GRCm39)	N864S	probably benign	Het
Ank2	C	T	3: 127,041,800 (GRCm39)	V35M	probably benign	Het
Apc2	T	C	10: 80,142,185 (GRCm39)	M368T	probably damaging	Het
Atp8b3	G	A	10: 80,365,515 (GRCm39)	T413M	probably damaging	Het
Cxcr4	A	G	1: 128,517,397 (GRCm39)	L86P	probably damaging	Het
Cyfip1	A	G	7: 55,547,691 (GRCm39)	Y598C	probably benign	Het
Epg5	A	G	18: 78,073,260 (GRCm39)	N2428D	probably benign	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm5422	A	G	10: 31,125,396 (GRCm39)		noncoding transcript	Het
Gm9913	T	A	2: 125,348,393 (GRCm39)		probably benign	Het
Hgfac	A	G	5: 35,201,728 (GRCm39)	N287S	probably benign	Het
Hook3	A	T	8: 26,549,300 (GRCm39)	N181K	probably benign	Het
Hormad1	A	G	3: 95,483,613 (GRCm39)	T142A	probably benign	Het
Klrh1	A	T	6: 129,745,098 (GRCm39)	F166Y	probably benign	Het
Lonrf1	T	A	8: 36,696,354 (GRCm39)	N565I	probably damaging	Het
Mast1	A	G	8: 85,651,936 (GRCm39)	S349P	probably benign	Het
Mcee	T	A	7: 64,050,023 (GRCm39)	N51K	probably damaging	Het
Mfsd6	A	C	1: 52,747,411 (GRCm39)	F485V	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nlrp6	T	A	7: 140,503,160 (GRCm39)	V422E	probably damaging	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Nsd2	T	A	5: 34,000,610 (GRCm39)	H42Q	probably benign	Het
Obscn	A	T	11: 58,969,870 (GRCm39)	S91T	probably benign	Het
Or10ak13	C	A	4: 118,639,392 (GRCm39)	C130F	probably damaging	Het
Or10j2	T	A	1: 173,097,846 (GRCm39)	Y35N	probably damaging	Het
Or13a20	A	T	7: 140,232,507 (GRCm39)	D205V	probably damaging	Het
Or5p72	A	T	7: 108,022,725 (GRCm39)		probably null	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or6d15	T	C	6: 116,559,446 (GRCm39)	I154V	probably benign	Het
Papss2	T	A	19: 32,614,528 (GRCm39)	N81K	probably damaging	Het
Plekhn1	A	G	4: 156,309,696 (GRCm39)	I147T	possibly damaging	Het
Ptgfrn	C	T	3: 100,980,405 (GRCm39)	E312K	probably damaging	Het
Serpinb1b	T	C	13: 33,277,796 (GRCm39)	V343A	probably benign	Het
Sis	T	C	3: 72,860,544 (GRCm39)	N261S	possibly damaging	Het
Slc41a2	T	C	10: 83,133,116 (GRCm39)	N310S	probably damaging	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Snrnp48	T	A	13: 38,400,439 (GRCm39)	I182N	possibly damaging	Het
Tppp2	A	T	14: 52,156,937 (GRCm39)	T105S	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vmn1r19	A	C	6: 57,381,602 (GRCm39)	M52L	probably benign	Het
Vmn2r94	T	A	17: 18,464,321 (GRCm39)	R656S	probably benign	Het

Other mutations in Kplce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Kplce	APN	3	92,776,200 (GRCm39)	missense	probably benign	0.17
R0421:Kplce	UTSW	3	92,776,291 (GRCm39)	missense	probably damaging	0.99
R1388:Kplce	UTSW	3	92,776,356 (GRCm39)	missense	probably damaging	1.00
R2187:Kplce	UTSW	3	92,775,922 (GRCm39)	missense	probably damaging	1.00
R4213:Kplce	UTSW	3	92,776,434 (GRCm39)	missense	probably benign	0.01
R4240:Kplce	UTSW	3	92,775,898 (GRCm39)	missense	possibly damaging	0.89
R5394:Kplce	UTSW	3	92,776,005 (GRCm39)	missense	probably damaging	1.00
R6804:Kplce	UTSW	3	92,776,354 (GRCm39)	missense	possibly damaging	0.67
R7293:Kplce	UTSW	3	92,776,126 (GRCm39)	missense	probably benign	0.32
R8049:Kplce	UTSW	3	92,776,202 (GRCm39)	nonsense	probably null
R9228:Kplce	UTSW	3	92,775,951 (GRCm39)	missense	probably benign
R9663:Kplce	UTSW	3	92,776,283 (GRCm39)	missense	probably benign	0.00
Z1176:Kplce	UTSW	3	92,776,581 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTCTGATAAGGAACCTGATACTGG -3'
(R):5'- TGGGAAAGGCCAGGTTTCAG -3'

Sequencing Primer
(F):5'- AGGAACCTGATACTGGACATAATATG -3'
(R):5'- TTTCAGGCCAGATCCAAGCTG -3'

Posted On

2017-08-16