Incidental Mutation 'R4358:Lrp10'
| ID |
324675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp10
|
| Ensembl Gene |
ENSMUSG00000022175 |
| Gene Name |
low-density lipoprotein receptor-related protein 10 |
| Synonyms |
Lrp9 |
| MMRRC Submission |
041110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4358 (G1)
|
| Quality Score |
225 |
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| 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 |
|---|
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,926,663 (GRCm39) |
|
probably null |
Het |
| Chil3 |
G |
A |
3: 106,067,815 (GRCm39) |
Q117* |
probably null |
Het |
| Daglb |
T |
C |
5: 143,458,889 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,089,578 (GRCm39) |
R1163* |
probably null |
Het |
| Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,380,946 (GRCm39) |
E507G |
probably benign |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| L3hypdh |
A |
T |
12: 72,124,198 (GRCm39) |
D247E |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,860,489 (GRCm39) |
N2999K |
probably damaging |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Mcm9 |
A |
C |
10: 53,413,749 (GRCm39) |
C444G |
probably benign |
Het |
| Mecom |
G |
A |
3: 30,033,934 (GRCm39) |
Q246* |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Or2a7 |
T |
A |
6: 43,151,160 (GRCm39) |
M80K |
probably damaging |
Het |
| Or8g26 |
G |
A |
9: 39,095,864 (GRCm39) |
C127Y |
probably damaging |
Het |
| P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Psmd13 |
G |
T |
7: 140,469,418 (GRCm39) |
|
probably benign |
Het |
| Pygl |
G |
A |
12: 70,242,464 (GRCm39) |
S573L |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,646,529 (GRCm39) |
V794A |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,315,861 (GRCm39) |
D555G |
probably damaging |
Het |
| Rptor |
G |
T |
11: 119,562,171 (GRCm39) |
E111D |
probably damaging |
Het |
| Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
| Scn4a |
G |
A |
11: 106,239,683 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
A |
15: 100,838,014 (GRCm39) |
A94T |
probably benign |
Het |
| Slc26a6 |
T |
A |
9: 108,738,982 (GRCm39) |
C636S |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,188,460 (GRCm39) |
K103R |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,202,381 (GRCm39) |
L675P |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Tmem132d |
G |
A |
5: 128,061,405 (GRCm39) |
T399M |
possibly damaging |
Het |
| Zfp939 |
A |
G |
7: 39,123,144 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp951 |
T |
C |
5: 104,962,541 (GRCm39) |
K342E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-06-24 |
Incidental Mutation