Mutagenetix > Incidental Mutation

Incidental Mutation 'R4694:Prelp'

355527

Institutional Source

Beutler Lab

Gene Symbol

Prelp

Ensembl Gene

ENSMUSG00000041577

Gene Name

proline arginine-rich end leucine-rich repeat

Synonyms

7330409J17Rik, SLRR2A

MMRRC Submission

041945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133838042-133849152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133842485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 220 (M220T)

Ref Sequence

ENSEMBL: ENSMUSP00000048803 (fasta)

Gene Model

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

AlphaFold

Q9JK53

Predicted Effect

probably damaging
Transcript: ENSMUST00000048432
AA Change: M220T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: M220T

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,979,586 (GRCm39)	F258Y	probably damaging	Het
Adamtsl4	C	T	3: 95,587,055 (GRCm39)	R765H	probably damaging	Het
Bicd1	T	A	6: 149,311,051 (GRCm39)	L42Q	probably damaging	Het
Cacna1e	C	T	1: 154,313,012 (GRCm39)		probably null	Het
Capn1	T	A	19: 6,044,761 (GRCm39)	K504*	probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep350	T	C	1: 155,804,332 (GRCm39)	K917R	probably damaging	Het
Cp	A	T	3: 20,029,049 (GRCm39)	T509S	probably benign	Het
Cyp2d10	T	C	15: 82,288,684 (GRCm39)	D266G	probably damaging	Het
Dhodh	C	G	8: 110,333,048 (GRCm39)	R7P	probably damaging	Het
Dmxl2	A	G	9: 54,354,189 (GRCm39)	L419P	probably benign	Het
Epb41l4b	A	T	4: 57,019,875 (GRCm39)	M84K	probably benign	Het
Fbln7	A	G	2: 128,722,345 (GRCm39)		probably null	Het
Fbxw11	C	T	11: 32,592,820 (GRCm39)		probably benign	Het
Flnc	C	A	6: 29,443,447 (GRCm39)	P543T	probably damaging	Het
Grid1	T	C	14: 34,748,737 (GRCm39)	S186P	probably damaging	Het
Hcfc2	C	T	10: 82,559,534 (GRCm39)	T382M	probably damaging	Het
Hdac9	G	T	12: 34,487,246 (GRCm39)	L73I	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,163 (GRCm39)	D302E	probably damaging	Het
Ifi204	C	T	1: 173,576,825 (GRCm39)	C592Y	probably damaging	Het
Jph1	T	A	1: 17,067,729 (GRCm39)	I653F	probably damaging	Het
Kcnj3	A	G	2: 55,484,918 (GRCm39)	K339E	probably benign	Het
Kcp	G	A	6: 29,493,196 (GRCm39)	T838I	probably benign	Het
Krtap26-1	A	T	16: 88,444,108 (GRCm39)	V171E	possibly damaging	Het
Lck	G	T	4: 129,442,765 (GRCm39)	N452K	possibly damaging	Het
Madd	A	G	2: 90,990,673 (GRCm39)	L1134S	probably damaging	Het
Mafk	T	C	5: 139,786,248 (GRCm39)	S149P	probably damaging	Het
Man1c1	T	C	4: 134,430,500 (GRCm39)	D94G	probably benign	Het
Me2	T	A	18: 73,934,930 (GRCm39)	M38L	probably benign	Het
Muc2	A	C	7: 141,306,082 (GRCm39)	D257A	probably damaging	Het
Myh11	T	C	16: 14,018,566 (GRCm39)	K1927E	probably damaging	Het
Naaladl1	C	T	19: 6,158,920 (GRCm39)	P324S	probably damaging	Het
Ndufa10	T	C	1: 92,379,824 (GRCm39)	E303G	probably benign	Het
Nedd1	C	T	10: 92,555,444 (GRCm39)	V14I	probably benign	Het
Nwd1	T	G	8: 73,393,958 (GRCm39)	V407G	probably damaging	Het
Or2h15	A	C	17: 38,441,748 (GRCm39)	C112G	probably damaging	Het
Or4b1d	T	A	2: 89,968,593 (GRCm39)	K297*	probably null	Het
Or4k15c	T	C	14: 50,321,476 (GRCm39)	I221V	probably benign	Het
Or5w13	T	A	2: 87,524,104 (GRCm39)	T41S	probably benign	Het
Or7g29	A	G	9: 19,286,694 (GRCm39)	L161P	probably damaging	Het
Pgrmc2	T	C	3: 41,024,840 (GRCm39)	D144G	probably damaging	Het
Ppp3cb	T	C	14: 20,551,583 (GRCm39)	N516S	probably benign	Het
Pramel27	T	C	4: 143,579,530 (GRCm39)	S372P	probably damaging	Het
Prss36	A	G	7: 127,534,787 (GRCm39)	W465R	probably damaging	Het
Pth2r	C	A	1: 65,375,920 (GRCm39)	F59L	probably benign	Het
Rab20	C	T	8: 11,504,485 (GRCm39)	G72R	probably damaging	Het
Rab4a	G	T	8: 124,555,769 (GRCm39)	G49W	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rock1	A	T	18: 10,136,152 (GRCm39)	Y178*	probably null	Het
Scaf8	C	A	17: 3,247,679 (GRCm39)	L1001I	probably damaging	Het
Sema3b	G	A	9: 107,482,201 (GRCm39)	P26S	probably benign	Het
Slc23a1	A	G	18: 35,752,633 (GRCm39)	L548P	probably damaging	Het
Sncaip	A	C	18: 53,039,629 (GRCm39)	T548P	probably benign	Het
Stpg2	C	T	3: 139,023,177 (GRCm39)	P398S	possibly damaging	Het
Stpg3	A	C	2: 25,103,309 (GRCm39)	V260G	probably damaging	Het
Tbc1d9	T	A	8: 83,960,875 (GRCm39)	F242I	probably damaging	Het
Tnks1bp1	G	A	2: 84,902,066 (GRCm39)	R992Q	probably damaging	Het
Tom1l1	T	G	11: 90,537,675 (GRCm39)	H394P	possibly damaging	Het
Topors	T	G	4: 40,261,442 (GRCm39)	N614T	possibly damaging	Het
Trank1	A	T	9: 111,221,129 (GRCm39)	Q2622L	probably benign	Het
Trub2	A	G	2: 29,668,858 (GRCm39)	S186P	probably damaging	Het
Unc13c	T	A	9: 73,479,636 (GRCm39)	H1756L	probably benign	Het
Vmn1r9	A	T	6: 57,048,314 (GRCm39)	I130F	probably benign	Het
Wdr72	A	T	9: 74,086,837 (GRCm39)	I602F	probably damaging	Het
Zfand3	T	A	17: 30,354,362 (GRCm39)	F60I	possibly damaging	Het
Zfp946	G	A	17: 22,674,692 (GRCm39)	G482E	probably benign	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
R2142:Prelp	UTSW	1	133,842,869 (GRCm39)	missense	probably benign
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'- GCACCAGCAAGTTGGAGATG -3'
(R):5'- CTACATGGAGAAGAACCAGCTG -3'

Sequencing Primer
(F):5'- AAGGAGTTCTTGGGGAGCCC -3'
(R):5'- CAGCTGGAAGAGGTGCCATC -3'

Posted On

2015-10-21