Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Prelp'

236315

Institutional Source

Beutler Lab

Gene Symbol

Prelp

Ensembl Gene

ENSMUSG00000041577

Gene Name

proline arginine-rich end leucine-rich repeat

Synonyms

7330409J17Rik, SLRR2A

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133838042-133849152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133842869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 92 (R92K)

Ref Sequence

ENSEMBL: ENSMUSP00000048803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048432]

AlphaFold

Q9JK53

Predicted Effect

probably benign
Transcript: ENSMUST00000048432
AA Change: R92K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: R92K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	23	63	N/A	INTRINSIC
LRRNT	68	102	5.86e-11	SMART
LRR	98	120	3.27e1	SMART
LRR	122	144	1.37e2	SMART
LRR	145	168	2.14e0	SMART
LRR	169	189	4.97e0	SMART
LRR	190	215	2.47e1	SMART
LRR	216	239	9.75e0	SMART
LRR	241	260	2.15e2	SMART
LRR	286	309	1.53e1	SMART
Blast:LRR	345	369	3e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160564

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Adgrb3	G	T	1: 25,107,290 (GRCm39)	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Angpt2	T	C	8: 18,764,156 (GRCm39)	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,059,871 (GRCm39)	K236*	probably null	Het
Baz1b	G	A	5: 135,246,129 (GRCm39)	R526H	probably damaging	Het
Bltp3b	A	G	10: 89,647,910 (GRCm39)	D207G	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Btnl9	G	T	11: 49,061,453 (GRCm39)		probably null	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdh8	C	A	8: 99,838,325 (GRCm39)	C505F	probably damaging	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Ces1c	T	A	8: 93,857,468 (GRCm39)	I38F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,363,965 (GRCm39)	H546R	probably damaging	Het
Crot	A	T	5: 9,037,780 (GRCm39)	Y179N	possibly damaging	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Ddb1	T	C	19: 10,596,490 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Elf2	A	G	3: 51,163,861 (GRCm39)	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fbn1	T	G	2: 125,254,628 (GRCm39)	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,381,609 (GRCm39)	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,667,198 (GRCm39)	T307A	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm266	C	T	12: 111,451,615 (GRCm39)	R197K	possibly damaging	Het
Gns	G	A	10: 121,228,683 (GRCm39)	R498H	probably damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Grk6	T	C	13: 55,602,177 (GRCm39)	W335R	probably damaging	Het
Helz2	T	C	2: 180,873,173 (GRCm39)	E2379G	probably benign	Het
Hmx2	A	T	7: 131,157,588 (GRCm39)	D234V	probably damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ipo9	CCT	CCTTCT	1: 135,314,020 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Itpkc	A	G	7: 26,919,075 (GRCm39)	V397A	possibly damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kdr	T	C	5: 76,129,083 (GRCm39)	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,811,094 (GRCm39)	N338S	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Micall1	T	C	15: 79,014,995 (GRCm39)	Y751H	probably damaging	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myh2	A	G	11: 67,080,158 (GRCm39)	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nrbp1	A	G	5: 31,405,273 (GRCm39)	E287G	possibly damaging	Het
Nup188	T	A	2: 30,226,718 (GRCm39)	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or2y13	A	G	11: 49,414,666 (GRCm39)	I39V	probably benign	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k48	C	A	2: 111,475,566 (GRCm39)	V259L	probably benign	Het
Or51a10	C	T	7: 103,699,507 (GRCm39)	G18D	probably damaging	Het
Or6c1b	A	G	10: 129,273,616 (GRCm39)	K312E	probably benign	Het
Or9g3	C	T	2: 85,590,021 (GRCm39)	R233H	probably benign	Het
Panx3	G	C	9: 37,577,969 (GRCm39)	S87W	probably damaging	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,555,176 (GRCm39)	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,645 (GRCm39)	G605V	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,594,119 (GRCm39)	K1331N	probably benign	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,043 (GRCm39)		probably null	Het
Prb1a	T	A	6: 132,184,166 (GRCm39)	Q489L	unknown	Het
Psme4	A	G	11: 30,770,998 (GRCm39)	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,314,210 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rit2	A	G	18: 31,286,766 (GRCm39)	F140L	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rorc	G	A	3: 94,296,833 (GRCm39)	R271Q	probably benign	Het
Sall3	A	T	18: 81,013,046 (GRCm39)	M1130K	probably damaging	Het
Sart3	T	C	5: 113,902,154 (GRCm39)	E141G	probably damaging	Het
Serpina9	T	C	12: 103,974,568 (GRCm39)	D195G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tars3	A	T	7: 65,308,645 (GRCm39)	I272L	probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,734,206 (GRCm39)	H294Y	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tigd4	A	G	3: 84,501,670 (GRCm39)	T196A	possibly damaging	Het
Treh	G	A	9: 44,592,438 (GRCm39)	M54I	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,213,653 (GRCm39)	I4T	probably damaging	Het
Zfp638	T	A	6: 83,963,578 (GRCm39)	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,856,311 (GRCm39)	H333N	probably damaging	Het

Other mutations in Prelp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Prelp	APN	1	133,842,545 (GRCm39)	missense	probably benign	0.03
IGL02869:Prelp	APN	1	133,843,005 (GRCm39)	nonsense	probably null
PIT4576001:Prelp	UTSW	1	133,842,903 (GRCm39)	missense	possibly damaging	0.78
R0972:Prelp	UTSW	1	133,842,414 (GRCm39)	missense	probably damaging	0.99
R1728:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1729:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1730:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1739:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1762:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1783:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1784:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1785:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R1843:Prelp	UTSW	1	133,842,495 (GRCm39)	missense	probably damaging	0.99
R2049:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R2130:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R2131:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R2133:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R2141:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
R4694:Prelp	UTSW	1	133,842,485 (GRCm39)	missense	probably damaging	0.96
R6398:Prelp	UTSW	1	133,842,479 (GRCm39)	missense	probably damaging	1.00
R6415:Prelp	UTSW	1	133,842,395 (GRCm39)	missense	probably damaging	1.00
R6415:Prelp	UTSW	1	133,840,516 (GRCm39)	missense	probably benign	0.38
R6678:Prelp	UTSW	1	133,842,513 (GRCm39)	missense	probably benign	0.00
R6767:Prelp	UTSW	1	133,840,448 (GRCm39)	missense	probably benign	0.02
R7644:Prelp	UTSW	1	133,842,356 (GRCm39)	missense	probably benign	0.16
R7834:Prelp	UTSW	1	133,842,510 (GRCm39)	missense	probably damaging	0.96
R8419:Prelp	UTSW	1	133,843,020 (GRCm39)	missense	probably benign	0.01
R8819:Prelp	UTSW	1	133,842,878 (GRCm39)	missense	probably damaging	0.98
R8820:Prelp	UTSW	1	133,842,878 (GRCm39)	missense	probably damaging	0.98
R9034:Prelp	UTSW	1	133,842,329 (GRCm39)	missense	probably damaging	1.00
R9300:Prelp	UTSW	1	133,842,257 (GRCm39)	missense	probably damaging	1.00
R9617:Prelp	UTSW	1	133,842,416 (GRCm39)	missense	probably damaging	1.00
X0066:Prelp	UTSW	1	133,843,014 (GRCm39)	missense	probably benign	0.00
Z1176:Prelp	UTSW	1	133,842,619 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTGATGGCACCTCTTC -3'
(R):5'- TTAGGCGTAAACCCAAGCCG -3'

Sequencing Primer
(F):5'- CTTCTCCATGTAGAGGAATGCCAG -3'
(R):5'- GAGGCCCACACCCAGATTTC -3'

Posted On

2014-10-01