Incidental Mutation 'IGL02697:Lrp10'
| ID |
303993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrp10
|
| Ensembl Gene |
ENSMUSG00000022175 |
| Gene Name |
low-density lipoprotein receptor-related protein 10 |
| Synonyms |
Lrp9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54701260-54707749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54707154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 664
(P664S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022782]
[ENSMUST00000227760]
|
| AlphaFold |
Q7TQH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022782
AA Change: P664S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: P664S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CUB
|
29 |
137 |
5.33e-2 |
SMART |
|
LDLa
|
140 |
177 |
5.26e-13 |
SMART |
|
CUB
|
193 |
306 |
2.57e-4 |
SMART |
|
LDLa
|
308 |
356 |
1.05e-3 |
SMART |
|
LDLa
|
357 |
399 |
4.89e-2 |
SMART |
|
LDLa
|
400 |
436 |
1.63e-9 |
SMART |
|
transmembrane domain
|
442 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228407
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
| H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
| Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
| Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
| Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
| Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
| Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
| Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
| Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
Het |
|
| Other mutations in Lrp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Lrp10
|
APN |
14 |
54,706,119 (GRCm39) |
nonsense |
probably null |
|
|
IGL02641:Lrp10
|
APN |
14 |
54,706,068 (GRCm39) |
nonsense |
probably null |
|
|
IGL02974:Lrp10
|
APN |
14 |
54,705,341 (GRCm39) |
nonsense |
probably null |
|
|
IGL03030:Lrp10
|
APN |
14 |
54,706,619 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
chowmein
|
UTSW |
14 |
54,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
egg_fu_young
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0452:Lrp10
|
UTSW |
14 |
54,705,036 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0765:Lrp10
|
UTSW |
14 |
54,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Lrp10
|
UTSW |
14 |
54,707,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1726:Lrp10
|
UTSW |
14 |
54,707,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2943:Lrp10
|
UTSW |
14 |
54,707,302 (GRCm39) |
unclassified |
probably benign |
|
|
R3746:Lrp10
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3749:Lrp10
|
UTSW |
14 |
54,706,723 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4356:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4358:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4379:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4380:Lrp10
|
UTSW |
14 |
54,705,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4751:Lrp10
|
UTSW |
14 |
54,706,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Lrp10
|
UTSW |
14 |
54,705,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Lrp10
|
UTSW |
14 |
54,707,067 (GRCm39) |
missense |
probably benign |
|
|
R6633:Lrp10
|
UTSW |
14 |
54,706,531 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6845:Lrp10
|
UTSW |
14 |
54,707,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Lrp10
|
UTSW |
14 |
54,705,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6958:Lrp10
|
UTSW |
14 |
54,707,278 (GRCm39) |
unclassified |
probably benign |
|
|
R6989:Lrp10
|
UTSW |
14 |
54,705,950 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7162:Lrp10
|
UTSW |
14 |
54,703,163 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7453:Lrp10
|
UTSW |
14 |
54,705,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7600:Lrp10
|
UTSW |
14 |
54,706,852 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9087:Lrp10
|
UTSW |
14 |
54,705,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Lrp10
|
UTSW |
14 |
54,706,856 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Lrp10
|
UTSW |
14 |
54,705,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lrp10
|
UTSW |
14 |
54,705,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Lrp10
|
UTSW |
14 |
54,705,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2015-04-16 |
Incidental Mutation