Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Prelp'

362427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prelp

Ensembl Gene

ENSMUSG00000041577

Gene Name

proline arginine-rich end leucine-rich repeat

Synonyms

7330409J17Rik, SLRR2A

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

133838042-133849152 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 133843005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 47 (E47*)

Ref Sequence

ENSEMBL: ENSMUSP00000048803 (fasta)

Gene Model

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

AlphaFold

Q9JK53

Predicted Effect

probably null
Transcript: ENSMUST00000048432
AA Change: E47*

SMART Domains

Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: E47*

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

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	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
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
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

Posted On

2015-12-18