Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00727:Kprp'

11686

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 #

IGL00727

Quality Score

Status

Chromosome

Chromosomal Location

92730381-92734554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92731734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 439 (S439T)

Ref Sequence

ENSEMBL: ENSMUSP00000072200 (fasta)

Gene Model

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

AlphaFold

B2RUR4

Predicted Effect

unknown
Transcript: ENSMUST00000072363
AA Change: S439T

SMART Domains

Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: S439T

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,672,803 (GRCm39)	Y1470F	probably damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dennd5b	G	T	6: 148,908,214 (GRCm39)		probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Klra17	A	G	6: 129,808,472 (GRCm39)	Y254H	probably benign	Het
Lrrc40	T	C	3: 157,769,508 (GRCm39)		probably null	Het
Nlrp4c	A	G	7: 6,069,701 (GRCm39)	E534G	possibly damaging	Het
Nsd3	T	C	8: 26,131,174 (GRCm39)	S180P	probably damaging	Het
Phc2	T	G	4: 128,639,637 (GRCm39)	V640G	probably damaging	Het
Ppp1r12a	G	A	10: 108,066,334 (GRCm39)	R175Q	probably damaging	Het
Prkd1	C	T	12: 50,411,444 (GRCm39)	R768H	probably damaging	Het

Other mutations in Kprp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01566:Kprp	APN	3	92,731,271 (GRCm39)	missense	probably benign	0.11
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

2012-12-06