Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01566:Kprp'

90978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kprp

Ensembl Gene

ENSMUSG00000059832

Gene Name

keratinocyte expressed, proline-rich

Synonyms

1110001M24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01566

Quality Score

Status

Chromosome

Chromosomal Location

92730381-92734554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92731271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 593 (N593S)

Ref Sequence

ENSEMBL: ENSMUSP00000072200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072363]

AlphaFold

B2RUR4

Predicted Effect

probably benign
Transcript: ENSMUST00000072363
AA Change: N593S

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: N593S

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	177	199	N/A	INTRINSIC
low complexity region	292	302	N/A	INTRINSIC
low complexity region	325	338	N/A	INTRINSIC
low complexity region	380	397	N/A	INTRINSIC
low complexity region	446	502	N/A	INTRINSIC
low complexity region	515	534	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,447,285 (GRCm39)	V149A	possibly damaging	Het
Casc3	T	C	11: 98,714,227 (GRCm39)		probably null	Het
Dhdds	T	C	4: 133,718,648 (GRCm39)	I162V	probably damaging	Het
Dsg1a	T	C	18: 20,469,840 (GRCm39)		probably benign	Het
E030025P04Rik	T	A	11: 109,034,714 (GRCm39)	D58V	unknown	Het
Gcn1	A	G	5: 115,749,117 (GRCm39)	N1883S	probably damaging	Het
Gucy1a2	T	C	9: 3,634,661 (GRCm39)	L235P	probably damaging	Het
Jkampl	G	A	6: 73,445,673 (GRCm39)	T292I	probably damaging	Het
Mme	T	C	3: 63,269,350 (GRCm39)		probably benign	Het
Nr6a1	G	T	2: 38,617,901 (GRCm39)	Q419K	probably benign	Het
Pcolce	A	G	5: 137,603,422 (GRCm39)		probably benign	Het
Ppp2cb	C	A	8: 34,101,791 (GRCm39)	R110S	probably benign	Het
Slc35f1	A	G	10: 52,965,551 (GRCm39)	Y322C	probably damaging	Het
Slc5a3	T	C	16: 91,874,465 (GRCm39)	V174A	probably damaging	Het
St8sia4	G	T	1: 95,581,482 (GRCm39)	R87S	probably benign	Het
Tfdp2	A	G	9: 96,177,083 (GRCm39)	E5G	probably damaging	Het
Tmem161b	T	C	13: 84,442,881 (GRCm39)	I267T	probably benign	Het
Ttn	A	G	2: 76,782,365 (GRCm39)	L957P	probably damaging	Het
Ttn	A	G	2: 76,612,445 (GRCm39)		probably benign	Het
Ubqln1	A	T	13: 58,327,481 (GRCm39)		probably null	Het
Wdfy3	A	C	5: 102,044,454 (GRCm39)		probably benign	Het

Other mutations in Kprp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Kprp	APN	3	92,731,734 (GRCm39)	missense	unknown
R0062:Kprp	UTSW	3	92,731,989 (GRCm39)	missense	probably damaging	1.00
R0062:Kprp	UTSW	3	92,731,989 (GRCm39)	missense	probably damaging	1.00
R0244:Kprp	UTSW	3	92,732,718 (GRCm39)	missense	probably benign	0.06
R0364:Kprp	UTSW	3	92,731,642 (GRCm39)	nonsense	probably null
R0414:Kprp	UTSW	3	92,733,020 (GRCm39)	missense	probably damaging	1.00
R0511:Kprp	UTSW	3	92,732,030 (GRCm39)	missense	probably damaging	1.00
R0555:Kprp	UTSW	3	92,731,664 (GRCm39)	missense	unknown
R0800:Kprp	UTSW	3	92,732,342 (GRCm39)	missense	unknown
R1356:Kprp	UTSW	3	92,732,909 (GRCm39)	missense	probably damaging	1.00
R1550:Kprp	UTSW	3	92,732,033 (GRCm39)	missense	probably damaging	0.96
R1571:Kprp	UTSW	3	92,732,689 (GRCm39)	nonsense	probably null
R1618:Kprp	UTSW	3	92,732,783 (GRCm39)	missense	probably damaging	0.99
R2424:Kprp	UTSW	3	92,732,912 (GRCm39)	missense	probably damaging	1.00
R2680:Kprp	UTSW	3	92,731,770 (GRCm39)	missense	unknown
R3605:Kprp	UTSW	3	92,731,588 (GRCm39)	missense	unknown
R3606:Kprp	UTSW	3	92,731,588 (GRCm39)	missense	unknown
R3607:Kprp	UTSW	3	92,731,588 (GRCm39)	missense	unknown
R3755:Kprp	UTSW	3	92,732,346 (GRCm39)	missense	unknown
R4116:Kprp	UTSW	3	92,731,275 (GRCm39)	missense	probably damaging	1.00
R4204:Kprp	UTSW	3	92,732,046 (GRCm39)	missense	probably damaging	0.99
R4320:Kprp	UTSW	3	92,732,163 (GRCm39)	missense	probably damaging	1.00
R4321:Kprp	UTSW	3	92,732,163 (GRCm39)	missense	probably damaging	1.00
R4323:Kprp	UTSW	3	92,732,163 (GRCm39)	missense	probably damaging	1.00
R4575:Kprp	UTSW	3	92,731,271 (GRCm39)	missense	probably benign	0.11
R4864:Kprp	UTSW	3	92,731,829 (GRCm39)	missense	unknown
R5133:Kprp	UTSW	3	92,731,829 (GRCm39)	missense	unknown
R5583:Kprp	UTSW	3	92,731,643 (GRCm39)	missense	unknown
R5902:Kprp	UTSW	3	92,731,835 (GRCm39)	missense	unknown
R5990:Kprp	UTSW	3	92,732,081 (GRCm39)	missense	probably damaging	1.00
R6198:Kprp	UTSW	3	92,731,994 (GRCm39)	missense	probably damaging	1.00
R6633:Kprp	UTSW	3	92,732,600 (GRCm39)	missense	probably damaging	1.00
R7025:Kprp	UTSW	3	92,732,504 (GRCm39)	missense	probably benign	0.03
R7269:Kprp	UTSW	3	92,731,178 (GRCm39)	missense	probably damaging	0.96
R7951:Kprp	UTSW	3	92,731,637 (GRCm39)	missense	unknown
R8298:Kprp	UTSW	3	92,732,607 (GRCm39)	missense	probably damaging	1.00
R9074:Kprp	UTSW	3	92,732,226 (GRCm39)	missense	probably damaging	0.99
R9140:Kprp	UTSW	3	92,732,458 (GRCm39)	nonsense	probably null
R9273:Kprp	UTSW	3	92,733,000 (GRCm39)	missense	probably damaging	1.00
R9405:Kprp	UTSW	3	92,731,560 (GRCm39)	missense	unknown
Z1088:Kprp	UTSW	3	92,732,364 (GRCm39)	nonsense	probably null

Posted On

2013-12-09