Incidental Mutation 'R6672:Lrpap1'
| ID |
527165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrpap1
|
| Ensembl Gene |
ENSMUSG00000029103 |
| Gene Name |
low density lipoprotein receptor-related protein associated protein 1 |
| Synonyms |
RAP |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35248834-35263043 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35256577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 135
(M135K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030986]
|
| AlphaFold |
P55302 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030986
AA Change: M135K
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: M135K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alpha-2-MRAP_N
|
20 |
137 |
7.7e-45 |
PFAM |
|
Pfam:Alpha-2-MRAP_C
|
148 |
360 |
3.4e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153664
|
| SMART Domains |
Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Alpha-2-MRAP_C
|
2 |
153 |
4.7e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, subtle abnormalities are seen in behavior, brain function and thyroid function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
Het |
|
| Other mutations in Lrpap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Lrpap1
|
APN |
5 |
35,253,411 (GRCm39) |
splice site |
probably benign |
|
|
IGL03102:Lrpap1
|
APN |
5 |
35,250,694 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0029:Lrpap1
|
UTSW |
5 |
35,255,021 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0089:Lrpap1
|
UTSW |
5 |
35,252,232 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1944:Lrpap1
|
UTSW |
5 |
35,254,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1955:Lrpap1
|
UTSW |
5 |
35,259,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3877:Lrpap1
|
UTSW |
5 |
35,255,547 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4004:Lrpap1
|
UTSW |
5 |
35,262,888 (GRCm39) |
nonsense |
probably null |
|
|
R4077:Lrpap1
|
UTSW |
5 |
35,253,381 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4078:Lrpap1
|
UTSW |
5 |
35,253,381 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4079:Lrpap1
|
UTSW |
5 |
35,253,381 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4782:Lrpap1
|
UTSW |
5 |
35,256,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Lrpap1
|
UTSW |
5 |
35,259,765 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6925:Lrpap1
|
UTSW |
5 |
35,259,880 (GRCm39) |
missense |
probably benign |
|
|
R8963:Lrpap1
|
UTSW |
5 |
35,255,001 (GRCm39) |
missense |
probably benign |
|
|
R9164:Lrpap1
|
UTSW |
5 |
35,262,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCACAGATCATGTCTC -3'
(R):5'- AACCTAAGCTGGTGCGTGTC -3'
Sequencing Primer
(F):5'- ACAGATCATGTCTCGCGGTG -3'
(R):5'- TCTCGTGTAGCCGCTCAGTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation