Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Prelp'

704826

Institutional Source

Beutler Lab

Gene Symbol

Prelp

Ensembl Gene

ENSMUSG00000041577

Gene Name

proline arginine-rich end leucine-rich repeat

Synonyms

7330409J17Rik, SLRR2A

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9300 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133838042-133849152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133842257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 296 (H296R)

Ref Sequence

ENSEMBL: ENSMUSP00000048803 (fasta)

Gene Model

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

AlphaFold

Q9JK53

Predicted Effect

probably damaging
Transcript: ENSMUST00000048432
AA Change: H296R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: H296R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acad8	A	T	9: 26,888,928 (GRCm39)	H371Q	probably damaging	Het
Actn3	G	T	19: 4,921,656 (GRCm39)	R175S	probably benign	Het
Adamts9	G	T	6: 92,864,371 (GRCm39)	D780E	probably benign	Het
AK157302	C	A	13: 21,679,537 (GRCm39)	T21K	probably benign	Het
Ank3	A	T	10: 69,706,872 (GRCm39)	H329L	unknown	Het
Ankrd36	A	G	11: 5,519,979 (GRCm39)	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,412,966 (GRCm39)	V38D	possibly damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Arid1b	C	A	17: 5,293,274 (GRCm39)	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,067,398 (GRCm39)	F578S	probably damaging	Het
Atp6v0a2	A	T	5: 124,789,312 (GRCm39)	I360F	probably damaging	Het
Bcas3	A	T	11: 85,448,184 (GRCm39)	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,766,441 (GRCm39)	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,708,821 (GRCm39)	K184*	probably null	Het
Ccdc138	A	T	10: 58,343,448 (GRCm39)	H101L	probably benign	Het
Cep120	T	A	18: 53,852,369 (GRCm39)	N503I	probably damaging	Het
Chil4	T	C	3: 106,109,874 (GRCm39)	T380A	probably benign	Het
Clip2	A	G	5: 134,526,942 (GRCm39)		probably null	Het
Cyp3a11	G	A	5: 145,799,164 (GRCm39)	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,656,906 (GRCm39)		probably benign	Het
Dcaf1	A	G	9: 106,725,042 (GRCm39)	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,010,102 (GRCm39)	S429P	probably damaging	Het
Eln	A	G	5: 134,758,220 (GRCm39)	V151A	unknown	Het
Endou	T	G	15: 97,610,954 (GRCm39)	M377L	probably benign	Het
Etfa	A	G	9: 55,396,152 (GRCm39)	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,768,109 (GRCm39)	S982T	probably benign	Het
Gm9602	A	T	14: 15,933,435 (GRCm39)	R47*	probably null	Het
Hectd4	G	A	5: 121,486,952 (GRCm39)	V3316I	probably benign	Het
Hif1a	T	C	12: 73,987,302 (GRCm39)	L477S	probably benign	Het
Icam5	G	C	9: 20,946,846 (GRCm39)	G458A	probably benign	Het
Itm2b	A	T	14: 73,603,896 (GRCm39)	D106E	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kif16b	G	T	2: 142,541,207 (GRCm39)	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,861,550 (GRCm39)	V61M	probably damaging	Het
Lclat1	T	A	17: 73,546,919 (GRCm39)	S279T	probably benign	Het
Lhx4	G	A	1: 155,580,956 (GRCm39)	L190F	probably damaging	Het
Lima1	C	T	15: 99,704,320 (GRCm39)	S283N	probably benign	Het
Magi1	C	A	6: 93,724,209 (GRCm39)	D496Y	probably damaging	Het
Map1a	T	C	2: 121,133,446 (GRCm39)	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,202,257 (GRCm39)	H163Y	probably damaging	Het
Mier3	T	G	13: 111,822,890 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,692,284 (GRCm39)	Q560*	probably null	Het
Mmp25	T	A	17: 23,851,728 (GRCm39)	D327V	probably benign	Het
Nckap5	G	A	1: 125,909,423 (GRCm39)	Q1603*	probably null	Het
Nell1	G	A	7: 49,712,368 (GRCm39)	V63I	probably benign	Het
Or10al3	C	T	17: 38,011,815 (GRCm39)	P85S	probably damaging	Het
Or2ag2b	A	T	7: 106,418,111 (GRCm39)	I274F	probably benign	Het
Or8a1	A	C	9: 37,641,578 (GRCm39)	S234A	probably benign	Het
Pde12	C	T	14: 26,386,931 (GRCm39)	E526K	probably damaging	Het
Pfn4	T	C	12: 4,825,442 (GRCm39)	V93A	possibly damaging	Het
Poglut2	A	G	1: 44,156,362 (GRCm39)	I75T	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977 (GRCm38)	S60P	unknown	Het
Prickle1	T	C	15: 93,398,749 (GRCm39)	E693G	possibly damaging	Het
Rars1	A	G	11: 35,706,488 (GRCm39)	L477P	probably damaging	Het
Rasal1	G	A	5: 120,802,172 (GRCm39)	R328H	probably damaging	Het
Rasef	A	G	4: 73,659,393 (GRCm39)	F220S	probably benign	Het
Rif1	C	T	2: 52,001,151 (GRCm39)	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,697,495 (GRCm39)	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,690,695 (GRCm39)	D1138E	probably benign	Het
Scn9a	T	A	2: 66,335,236 (GRCm39)	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,715,856 (GRCm39)	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,049,433 (GRCm39)	E1019G	probably damaging	Het
Shh	A	G	5: 28,663,461 (GRCm39)	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,014,744 (GRCm39)	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,815,274 (GRCm39)	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,384,633 (GRCm39)	L24P	probably benign	Het
Slc39a4	G	T	15: 76,498,759 (GRCm39)	Q312K	probably damaging	Het
Slc6a5	A	T	7: 49,601,175 (GRCm39)	I659F	probably damaging	Het
Slc7a4	T	C	16: 17,392,399 (GRCm39)	Y345C	probably benign	Het
Slco6c1	G	T	1: 96,993,809 (GRCm39)	R645S	probably benign	Het
Soat1	T	C	1: 156,268,923 (GRCm39)	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,054,714 (GRCm39)	S953P	probably benign	Het
Tgm1	G	A	14: 55,942,303 (GRCm39)	H683Y	probably benign	Het
Tmem98	G	A	11: 80,708,432 (GRCm39)	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,955,745 (GRCm39)	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,872 (GRCm39)	V179I	probably benign	Het
Vmn1r119	G	T	7: 20,745,638 (GRCm39)	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,506,945 (GRCm39)	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,793,030 (GRCm39)	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,168,585 (GRCm39)	I50F	probably damaging	Het
Wdr1	T	C	5: 38,685,255 (GRCm39)	D572G	probably damaging	Het
Xaf1	T	C	11: 72,192,517 (GRCm39)	F5S	probably benign	Het
Zan	A	T	5: 137,468,519 (GRCm39)		probably null	Het
Zfp697	T	C	3: 98,334,979 (GRCm39)	V248A	possibly damaging	Het
Zftraf1	C	A	15: 76,530,541 (GRCm39)	V260L	probably benign	Het
Zkscan3	T	A	13: 21,577,667 (GRCm39)	T249S	unknown	Het
Znfx1	A	G	2: 166,897,860 (GRCm39)	Y355H	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
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
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'- ACTGTCCCAGTAGTTGCTTC -3'
(R):5'- CTCATGCAGCTCAATCTAGCC -3'

Sequencing Primer
(F):5'- AGTAGTTGCTTCTTGTTACCTCACAG -3'
(R):5'- TCCTGAGAAAGATGCCCCC -3'

Posted On

2022-03-25