Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Prelp'

73597

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 #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

133838042-133849152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133842545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 200 (H200R)

Ref Sequence

ENSEMBL: ENSMUSP00000048803 (fasta)

Gene Model

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

AlphaFold

Q9JK53

Predicted Effect

probably benign
Transcript: ENSMUST00000048432
AA Change: H200R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: H200R

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,931,410 (GRCm39)	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,694,528 (GRCm39)	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,151,352 (GRCm39)	M195L	possibly damaging	Het
Adrm1	A	G	2: 179,817,756 (GRCm39)		probably benign	Het
Atg13	T	A	2: 91,509,176 (GRCm39)	I457F	possibly damaging	Het
BC034090	T	C	1: 155,102,130 (GRCm39)	N45D	probably damaging	Het
C3	C	T	17: 57,516,652 (GRCm39)		probably benign	Het
Cacna1a	G	A	8: 85,249,657 (GRCm39)	G221D	probably damaging	Het
Calr	A	G	8: 85,573,335 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,248,557 (GRCm39)	V825I	probably damaging	Het
Chdh	T	G	14: 29,757,761 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,400,529 (GRCm39)	V627A	probably damaging	Het
Commd3	A	G	2: 18,677,289 (GRCm39)	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773 (GRCm39)	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,723,724 (GRCm39)		probably benign	Het
Dok7	G	A	5: 35,236,912 (GRCm39)	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,102,596 (GRCm39)	V523A	probably benign	Het
Fam171b	C	T	2: 83,709,791 (GRCm39)	Q488*	probably null	Het
Gabbr1	G	A	17: 37,359,499 (GRCm39)		probably null	Het
Gm5965	T	G	16: 88,575,219 (GRCm39)	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,392,244 (GRCm39)	D235G	probably damaging	Het
Grip1	A	T	10: 119,767,207 (GRCm39)	K111*	probably null	Het
Itih4	G	T	14: 30,613,706 (GRCm39)	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,633,314 (GRCm39)	Y266H	probably damaging	Het
Lrrc41	T	C	4: 115,953,663 (GRCm39)	L783P	probably damaging	Het
Map4k5	T	C	12: 69,888,737 (GRCm39)	D298G	probably benign	Het
Mapkbp1	T	C	2: 119,849,423 (GRCm39)	F712L	probably damaging	Het
Mcoln2	T	C	3: 145,869,282 (GRCm39)		probably benign	Het
Megf11	T	A	9: 64,588,698 (GRCm39)	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192 (GRCm39)	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185 (GRCm39)	I596M	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtmr9	A	G	14: 63,764,254 (GRCm39)	L491P	probably damaging	Het
Or4a66	T	G	2: 88,531,310 (GRCm39)	Y121S	probably damaging	Het
Or8b52	T	A	9: 38,576,289 (GRCm39)	I284L	probably benign	Het
Or9s13	T	C	1: 92,548,057 (GRCm39)	M143T	probably damaging	Het
Otor	T	C	2: 142,920,532 (GRCm39)	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,569,207 (GRCm39)	D118Y	probably damaging	Het
Prmt5	T	C	14: 54,747,334 (GRCm39)	Y481C	probably damaging	Het
Psg23	T	G	7: 18,348,465 (GRCm39)	D114A	probably damaging	Het
Ptger4	A	T	15: 5,272,239 (GRCm39)	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,528,368 (GRCm39)	V385L	probably benign	Het
Rergl	T	A	6: 139,470,256 (GRCm39)	K191*	probably null	Het
Sart3	A	G	5: 113,897,311 (GRCm39)	F252S	probably damaging	Het
Sbno1	A	T	5: 124,519,769 (GRCm39)	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,532,448 (GRCm39)	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,434,470 (GRCm39)	E747K	probably benign	Het
Sptb	T	A	12: 76,634,237 (GRCm39)	D2158V	probably benign	Het
Sycp2	T	G	2: 177,999,904 (GRCm39)	D1024A	probably benign	Het
Tbr1	T	G	2: 61,636,411 (GRCm39)	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 122,770,717 (GRCm39)	I836F	probably benign	Het
Ttn	T	C	2: 76,769,091 (GRCm39)	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,778,026 (GRCm39)	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,652,424 (GRCm39)	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,787,997 (GRCm39)	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060 (GRCm39)	H353L	probably damaging	Het

Other mutations in Prelp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07