Incidental Mutation 'R6678:Prelp'
| ID |
527332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prelp
|
| Ensembl Gene |
ENSMUSG00000041577 |
| Gene Name |
proline arginine-rich end leucine-rich repeat |
| Synonyms |
7330409J17Rik, SLRR2A |
| MMRRC Submission |
044797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6678 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133838042-133849152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 133842513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 211
(D211N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048432]
|
| AlphaFold |
Q9JK53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048432
AA Change: D211N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000048803
Gene: ENSMUSG00000041577
AA Change: D211N
| 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 |
0.0858 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
| Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
| Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
| Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
| Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
| Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
| Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
| Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
| Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
| P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
| Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
|
|
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 |
|
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'- TGTAGTTCATGCGGATGAAGGC -3'
(R):5'- ATTCGCAAGGTGGACCAGAG -3'
Sequencing Primer
(F):5'- CCAGGTTGGGGAAGTCCTTGAAG -3'
(R):5'- CTGGCATTCCTCTACATGGAGAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation