Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Kprp'

342379

Institutional Source

Beutler Lab

Gene Symbol

Kprp

Ensembl Gene

ENSMUSG00000059832

Gene Name

keratinocyte expressed, proline-rich

Synonyms

1110001M24Rik

MMRRC Submission

041798-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4575 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92823074-92827247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92823964 bp (GRCm38)

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 131,362,596	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,871,268		noncoding transcript	Het
Adgrf3	T	A	5: 30,202,257	M224L	probably benign	Het
Ago3	T	C	4: 126,346,682	H129R	probably benign	Het
Asb10	C	T	5: 24,540,054	R99H	probably damaging	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
Ccdc96	T	C	5: 36,486,075	V475A	possibly damaging	Het
Clec4b2	T	A	6: 123,173,680	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,734,361	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,371,932	A167E	possibly damaging	Het
Doxl2	C	T	6: 48,977,568	Q547*	probably null	Het
Dpysl3	T	C	18: 43,342,247	K382R	probably damaging	Het
Dscam	A	G	16: 96,825,623	I362T	possibly damaging	Het
Edil3	T	C	13: 89,319,731	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Fgd4	T	C	16: 16,437,032	Q507R	probably damaging	Het
Frem3	A	G	8: 80,616,075	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Gabrr1	C	T	4: 33,158,175	T266I	possibly damaging	Het
Gm11563	G	A	11: 99,658,449	P160S	unknown	Het
Gm12166	T	C	11: 46,051,852	D148G	probably damaging	Het
Gm12790	T	C	4: 101,968,127	D30G	probably benign	Het
Haus8	A	G	8: 71,263,092	V34A	probably damaging	Het
Hgf	T	C	5: 16,572,601	Y199H	probably benign	Het
Ide	G	A	19: 37,272,205	P916L	unknown	Het
Igsf10	G	T	3: 59,330,100	H887N	probably benign	Het
Iigp1	A	T	18: 60,390,146	H112L	probably benign	Het
Impg2	A	G	16: 56,261,732	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,350,429	D91A	probably damaging	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Krt2	T	G	15: 101,814,486	D359A	probably damaging	Het
Krt35	A	T	11: 100,095,899	N96K	probably benign	Het
Lnx1	T	C	5: 74,685,543	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nfib	A	T	4: 82,296,811	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299	I473V	probably benign	Het
Obscn	T	C	11: 59,122,772	D1108G	probably damaging	Het
Olfr553	A	T	7: 102,614,769	C73*	probably null	Het
Olfr834	C	A	9: 18,988,705	S239*	probably null	Het
Otop1	T	C	5: 38,299,721	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,366,912	K82N	probably damaging	Het
Prr14l	T	C	5: 32,793,644	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,243,786	V78I	possibly damaging	Het
Rfc4	T	A	16: 23,114,429		probably benign	Het
Rpn2	C	A	2: 157,295,324	A209E	probably damaging	Het
Sf1	T	C	19: 6,375,913		probably benign	Het
Skint5	T	A	4: 113,667,193	S864C	unknown	Het
Slc2a10	C	G	2: 165,516,321	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,235,066	I1673N	probably benign	Het
Sri	G	T	5: 8,063,693	G152W	probably damaging	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Svop	C	T	5: 114,065,682	V13M	probably damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Uhrf1bp1	T	C	17: 27,887,503	V1001A	probably benign	Het
Vmn2r125	T	A	4: 156,349,977	D19E	probably null	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly damaging	Het

Other mutations in Kprp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Kprp	APN	3	92824427	missense	unknown
IGL01566:Kprp	APN	3	92823964	missense	probably benign	0.11
R0062:Kprp	UTSW	3	92824682	missense	probably damaging	1.00
R0062:Kprp	UTSW	3	92824682	missense	probably damaging	1.00
R0244:Kprp	UTSW	3	92825411	missense	probably benign	0.06
R0364:Kprp	UTSW	3	92824335	nonsense	probably null
R0414:Kprp	UTSW	3	92825713	missense	probably damaging	1.00
R0511:Kprp	UTSW	3	92824723	missense	probably damaging	1.00
R0555:Kprp	UTSW	3	92824357	missense	unknown
R0800:Kprp	UTSW	3	92825035	missense	unknown
R1356:Kprp	UTSW	3	92825602	missense	probably damaging	1.00
R1550:Kprp	UTSW	3	92824726	missense	probably damaging	0.96
R1571:Kprp	UTSW	3	92825382	nonsense	probably null
R1618:Kprp	UTSW	3	92825476	missense	probably damaging	0.99
R2424:Kprp	UTSW	3	92825605	missense	probably damaging	1.00
R2680:Kprp	UTSW	3	92824463	missense	unknown
R3605:Kprp	UTSW	3	92824281	missense	unknown
R3606:Kprp	UTSW	3	92824281	missense	unknown
R3607:Kprp	UTSW	3	92824281	missense	unknown
R3755:Kprp	UTSW	3	92825039	missense	unknown
R4116:Kprp	UTSW	3	92823968	missense	probably damaging	1.00
R4204:Kprp	UTSW	3	92824739	missense	probably damaging	0.99
R4320:Kprp	UTSW	3	92824856	missense	probably damaging	1.00
R4321:Kprp	UTSW	3	92824856	missense	probably damaging	1.00
R4323:Kprp	UTSW	3	92824856	missense	probably damaging	1.00
R4864:Kprp	UTSW	3	92824522	missense	unknown
R5133:Kprp	UTSW	3	92824522	missense	unknown
R5583:Kprp	UTSW	3	92824336	missense	unknown
R5902:Kprp	UTSW	3	92824528	missense	unknown
R5990:Kprp	UTSW	3	92824774	missense	probably damaging	1.00
R6198:Kprp	UTSW	3	92824687	missense	probably damaging	1.00
R6633:Kprp	UTSW	3	92825293	missense	probably damaging	1.00
R7025:Kprp	UTSW	3	92825197	missense	probably benign	0.03
R7269:Kprp	UTSW	3	92823871	missense	probably damaging	0.96
R7951:Kprp	UTSW	3	92824330	missense	unknown
R8298:Kprp	UTSW	3	92825300	missense	probably damaging	1.00
R9074:Kprp	UTSW	3	92824919	missense	probably damaging	0.99
R9140:Kprp	UTSW	3	92825151	nonsense	probably null
R9273:Kprp	UTSW	3	92825693	missense	probably damaging	1.00
R9405:Kprp	UTSW	3	92824253	missense	unknown
Z1088:Kprp	UTSW	3	92825057	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGCCCCACAGTTCATGC -3'
(R):5'- ATGCTCAGCTCCTCAACCAG -3'

Sequencing Primer
(F):5'- AGTTCATGCCACCACAGGTATTTC -3'
(R):5'- CAGTTCACTGTGAGAATCCAGGTC -3'

Posted On

2015-09-24