Incidental Mutation 'R4380:Lrp10'
| ID |
325306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp10
|
| Ensembl Gene |
ENSMUSG00000022175 |
| Gene Name |
low-density lipoprotein receptor-related protein 10 |
| Synonyms |
Lrp9 |
| MMRRC Submission |
041678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4380 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54701260-54707749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 54705823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 338
(R338C)
|
| 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: R338C
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: R338C
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (45/46) |
| 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 |
|---|
| 2310016G11Rik |
T |
C |
7: 44,326,580 (GRCm39) |
|
noncoding transcript |
Het |
| Casc3 |
C |
A |
11: 98,713,857 (GRCm39) |
P363Q |
possibly damaging |
Het |
| Cep162 |
C |
A |
9: 87,082,056 (GRCm39) |
R1283L |
probably damaging |
Het |
| Clk3 |
C |
A |
9: 57,659,075 (GRCm39) |
W562L |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,645,529 (GRCm39) |
T844M |
possibly damaging |
Het |
| Dntt |
G |
C |
19: 41,041,672 (GRCm39) |
G452A |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,513,120 (GRCm39) |
V20I |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,154,798 (GRCm39) |
I270N |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,273,350 (GRCm39) |
I575N |
possibly damaging |
Het |
| Gldc |
G |
T |
19: 30,138,168 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,357,462 (GRCm39) |
V347L |
probably benign |
Het |
| Gmds |
T |
A |
13: 32,101,679 (GRCm39) |
N304I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,509 (GRCm39) |
T1686A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,013,683 (GRCm39) |
Q519L |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,248,285 (GRCm39) |
|
probably benign |
Het |
| Mcfd2 |
C |
G |
17: 87,565,387 (GRCm39) |
G39R |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,041,219 (GRCm39) |
H125R |
probably damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,807 (GRCm39) |
T173A |
probably benign |
Het |
| Or4s2b |
A |
G |
2: 88,508,615 (GRCm39) |
T132A |
possibly damaging |
Het |
| Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,263 (GRCm39) |
R683S |
probably null |
Het |
| Pkn2 |
A |
T |
3: 142,536,217 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
T |
G |
3: 117,116,046 (GRCm39) |
T604P |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,856 (GRCm39) |
I196F |
probably benign |
Het |
| Slc34a2 |
C |
T |
5: 53,226,628 (GRCm39) |
P584S |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,009,392 (GRCm39) |
M361K |
probably damaging |
Het |
| Snx4 |
T |
A |
16: 33,084,666 (GRCm39) |
I60N |
probably damaging |
Het |
| Sp6 |
T |
C |
11: 96,912,572 (GRCm39) |
L95P |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,175 (GRCm39) |
F646S |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,490,891 (GRCm39) |
M785T |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,264 (GRCm39) |
C11* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,748,485 (GRCm39) |
V4188E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,275,753 (GRCm39) |
H366L |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,101,442 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,683,022 (GRCm39) |
Y3487C |
unknown |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
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 |
|
|
IGL02697:Lrp10
|
APN |
14 |
54,707,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2015-07-06 |
Incidental Mutation