Mutagenetix > Incidental Mutation

Incidental Mutation 'R4213:Kplce'

319293

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

041040-MU

Accession Numbers

Essential gene?

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

Stock #

R4213 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92775666-92777512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92776434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 83 (P83L)

Ref Sequence

ENSEMBL: ENSMUSP00000126921 (fasta)

Gene Model

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

AlphaFold

G5E8Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000163439
AA Change: P83L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126921
Gene: ENSMUSG00000090314
AA Change: P83L

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

Meta Mutation Damage Score

0.2176

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	A	C	8: 123,617,765 (GRCm39)	V2029G	probably benign	Het
Arhgap28	A	T	17: 68,178,988 (GRCm39)	V291E	probably benign	Het
Cad	G	A	5: 31,229,688 (GRCm39)	V1390I	probably benign	Het
Cadps2	A	T	6: 23,599,462 (GRCm39)	D281E	probably damaging	Het
Celsr1	G	A	15: 85,916,008 (GRCm39)	T655I	probably damaging	Het
Cep350	C	G	1: 155,811,707 (GRCm39)	G411A	probably damaging	Het
Chml	A	T	1: 175,514,261 (GRCm39)	F210L	probably damaging	Het
Col4a4	A	T	1: 82,430,865 (GRCm39)	M1679K	unknown	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Depdc1b	T	G	13: 108,525,225 (GRCm39)	F527V	probably damaging	Het
Dipk1b	C	T	2: 26,525,960 (GRCm39)	T298I	probably benign	Het
Dsg2	T	C	18: 20,731,571 (GRCm39)	L731P	probably benign	Het
Fbxo25	A	G	8: 13,989,581 (GRCm39)	T343A	probably damaging	Het
Gk5	T	C	9: 96,011,106 (GRCm39)	L72P	probably damaging	Het
Gpr137c	G	A	14: 45,483,965 (GRCm39)	E231K	probably damaging	Het
Hdc	C	T	2: 126,439,786 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,183,139 (GRCm39)	N1112S	possibly damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Nmur1	T	G	1: 86,315,506 (GRCm39)	T87P	probably damaging	Het
Or5d16	T	C	2: 87,773,465 (GRCm39)	Y169C	probably benign	Het
Pira13	C	A	7: 3,824,553 (GRCm39)	A510S	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Siglec1	C	T	2: 130,916,038 (GRCm39)	E1275K	probably damaging	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sqor	G	T	2: 122,629,418 (GRCm39)	G92V	probably damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tob1	A	G	11: 94,105,018 (GRCm39)	T185A	probably damaging	Het
Yjefn3	G	T	8: 70,343,540 (GRCm39)	H50Q	probably benign	Het
Zswim1	T	C	2: 164,667,705 (GRCm39)	V319A	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
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
R6124:Kplce	UTSW	3	92,776,365 (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'- CTGGACACTTGACAGAGGTC -3'
(R):5'- ATCTTGCGTGAAGGGTTCC -3'

Sequencing Primer
(F):5'- CGTCTGACACGGAGCTG -3'
(R):5'- CGTGAAGGGTTCCGGACTG -3'

Posted On

2015-06-10