Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:Kprp'

525280

Institutional Source

Beutler Lab

Gene Symbol

Kprp

Ensembl Gene

ENSMUSG00000059832

Gene Name

keratinocyte expressed, proline-rich

Synonyms

1110001M24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92823074-92827247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92825293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 150 (Y150C)

Ref Sequence

ENSEMBL: ENSMUSP00000072200 (fasta)

Gene Model

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

AlphaFold

B2RUR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072363
AA Change: Y150C

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

SMART Domains

Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: Y150C

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	A	11: 84,511,482		probably null	Het
Acot7	C	T	4: 152,178,259	P30L	probably benign	Het
Adam24	T	G	8: 40,680,487	D331E	probably benign	Het
Adamdec1	T	C	14: 68,573,152	D185G	probably benign	Het
Adgrg7	T	C	16: 56,730,286	I688V	probably benign	Het
Adgrv1	A	T	13: 81,568,643	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,381,467	I172V	probably benign	Het
Anapc4	C	T	5: 52,865,946	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,212,544	N179S	probably benign	Het
Arhgef40	C	T	14: 51,997,431	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,385,331	N362S	possibly damaging	Het
Ccdc80	T	C	16: 45,094,908	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,485,189	E180K	probably benign	Het
Cdh2	A	T	18: 16,640,548	N241K	probably benign	Het
Cdk8	C	A	5: 146,298,846	S261*	probably null	Het
Csf2rb2	T	C	15: 78,288,952	E236G	probably benign	Het
Dgcr8	A	T	16: 18,284,182	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,787	Y1346F	probably benign	Het
Dock6	A	G	9: 21,820,331	V1194A	probably benign	Het
Dock6	A	G	9: 21,821,503	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,683,996	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738		probably benign	Het
Fcer1a	C	G	1: 173,226,726		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,928,720		probably null	Het
Gm44511	T	A	6: 128,826,242	D2V	probably damaging	Het
H2-Q2	A	G	17: 35,342,387	T19A	probably damaging	Het
Herc1	G	T	9: 66,439,252	E1967*	probably null	Het
Hic1	G	T	11: 75,169,498	H8N	unknown	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Jarid2	C	A	13: 44,884,877	H84N	probably damaging	Het
Klk1b27	A	T	7: 44,055,810	I134F	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,469,074	V489A	probably benign	Het
Mrgpra6	A	G	7: 47,188,745	I235T	possibly damaging	Het
Naip1	A	G	13: 100,423,076	M1140T	probably benign	Het
Naip1	C	T	13: 100,423,085	R1137Q	probably benign	Het
Olfr1259	T	C	2: 89,943,366	I250V	probably benign	Het
Plcl2	A	G	17: 50,640,140	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,645,639	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,735,513	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,253,255		probably null	Het
Rag1	T	A	2: 101,642,710	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852	F53L	probably damaging	Het
Tango6	T	C	8: 106,718,005	V514A	probably benign	Het
Tex30	A	C	1: 44,087,924	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,657,659		probably null	Het
Tmem5	G	A	10: 122,097,053	R7W	probably damaging	Het
Tpcn1	A	G	5: 120,544,464	M493T	probably benign	Het
Tpx2	T	G	2: 152,867,354	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971	T112I	probably benign	Het
Wnt2b	T	C	3: 104,951,056	Y299C	probably 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
R4575:Kprp	UTSW	3	92823964	missense	probably benign	0.11
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
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'- ACTGTGATTGAGGAGTGCAGC -3'
(R):5'- AGGCTCCATGTAAGACCACC -3'

Sequencing Primer
(F):5'- TTGAGGAGTGCAGCTACCG -3'
(R):5'- GTGCCAGTCAAAGACTACCCAGG -3'

Posted On

2018-06-22