Incidental Mutation 'R3749:Lrp10'
ID |
310112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrp10
|
Ensembl Gene |
ENSMUSG00000022175 |
Gene Name |
low-density lipoprotein receptor-related protein 10 |
Synonyms |
Lrp9 |
MMRRC Submission |
040734-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3749 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
54701260-54707749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 54706723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 520
(N520I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022782]
[ENSMUST00000227760]
|
AlphaFold |
Q7TQH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022782
AA Change: N520I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022782 Gene: ENSMUSG00000022175 AA Change: N520I
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 |
unknown
Transcript: ENSMUST00000228407
AA Change: T114S
|
Meta Mutation Damage Score |
0.3391 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
Adam19 |
A |
T |
11: 46,028,437 (GRCm39) |
D690V |
probably benign |
Het |
Ankib1 |
G |
T |
5: 3,784,097 (GRCm39) |
P293Q |
probably damaging |
Het |
Arhgap19 |
T |
A |
19: 41,762,518 (GRCm39) |
E461V |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
Colq |
A |
T |
14: 31,271,410 (GRCm39) |
|
probably benign |
Het |
Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
Faap24 |
A |
T |
7: 35,092,437 (GRCm39) |
V160D |
possibly damaging |
Het |
Gpc1 |
C |
A |
1: 92,785,304 (GRCm39) |
C414* |
probably null |
Het |
Igkv9-120 |
G |
A |
6: 68,026,985 (GRCm39) |
A7T |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,376,798 (GRCm39) |
C391S |
probably null |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,160 (GRCm39) |
V856A |
probably benign |
Het |
Mfsd1 |
T |
C |
3: 67,490,286 (GRCm39) |
S46P |
probably benign |
Het |
Mme |
T |
A |
3: 63,250,961 (GRCm39) |
V334E |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,474,890 (GRCm39) |
T642A |
probably benign |
Het |
Olfm1 |
C |
T |
2: 28,098,100 (GRCm39) |
T54I |
probably damaging |
Het |
Or10c1 |
G |
A |
17: 37,522,691 (GRCm39) |
R18C |
possibly damaging |
Het |
Or6c3b |
C |
T |
10: 129,527,830 (GRCm39) |
V27I |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Patj |
A |
G |
4: 98,357,837 (GRCm39) |
Y701C |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc25a25 |
G |
T |
2: 32,310,392 (GRCm39) |
N122K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 5,002,267 (GRCm39) |
|
probably benign |
Het |
Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,223,466 (GRCm39) |
D114G |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
Tpi1 |
T |
A |
6: 124,789,754 (GRCm39) |
S130C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,295,084 (GRCm39) |
V38E |
probably benign |
Het |
Vmn1r158 |
A |
C |
7: 22,489,639 (GRCm39) |
L190W |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
Wnt2 |
T |
C |
6: 18,023,167 (GRCm39) |
I161V |
probably benign |
Het |
Zdhhc25 |
C |
T |
15: 88,485,226 (GRCm39) |
S187L |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,099,703 (GRCm39) |
S476P |
probably damaging |
Het |
Zmynd8 |
A |
G |
2: 165,647,118 (GRCm39) |
Y945H |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACTTATGTCTAAGTGGCCCTC -3'
(R):5'- CCGAGCTGGGGTATTAGTTC -3'
Sequencing Primer
(F):5'- GCTGAGATTGTGCAGCAAC -3'
(R):5'- TATTAGTTCGAGGAAGCAGGCCC -3'
|
Posted On |
2015-04-17 |