Incidental Mutation 'IGL02708:Vldlr'
ID |
304445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vldlr
|
Ensembl Gene |
ENSMUSG00000024924 |
Gene Name |
very low density lipoprotein receptor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
IGL02708
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
27193884-27231631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27215485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 161
(C161R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025866]
[ENSMUST00000047645]
[ENSMUST00000164746]
[ENSMUST00000165761]
[ENSMUST00000167487]
[ENSMUST00000172302]
|
AlphaFold |
P98156 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025866
AA Change: C161R
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025866 Gene: ENSMUSG00000024924 AA Change: C161R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
Blast:LY
|
461 |
495 |
4e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047645
AA Change: C120R
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000049145 Gene: ENSMUSG00000024924 AA Change: C120R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
1.25e-14 |
SMART |
LDLa
|
112 |
149 |
7.15e-15 |
SMART |
LDLa
|
151 |
190 |
1.23e-13 |
SMART |
LDLa
|
197 |
234 |
1.1e-15 |
SMART |
LDLa
|
236 |
273 |
1.13e-12 |
SMART |
LDLa
|
276 |
316 |
3.86e-11 |
SMART |
EGF_CA
|
315 |
354 |
1e-5 |
SMART |
EGF_CA
|
355 |
394 |
6.1e-10 |
SMART |
LY
|
420 |
462 |
2.16e-1 |
SMART |
LY
|
464 |
506 |
9.54e-12 |
SMART |
LY
|
507 |
550 |
2.22e-12 |
SMART |
LY
|
551 |
593 |
1.66e-11 |
SMART |
LY
|
594 |
637 |
5.97e-4 |
SMART |
EGF
|
664 |
709 |
2.16e-1 |
SMART |
transmembrane domain
|
728 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164509
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164746
|
SMART Domains |
Protein: ENSMUSP00000128193 Gene: ENSMUSG00000024924
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165761
|
SMART Domains |
Protein: ENSMUSP00000130382 Gene: ENSMUSG00000024924
Domain | Start | End | E-Value | Type |
LDLa
|
1 |
26 |
1.58e0 |
SMART |
EGF
|
28 |
64 |
4e-5 |
SMART |
LY
|
88 |
130 |
2.16e-1 |
SMART |
LY
|
132 |
174 |
9.54e-12 |
SMART |
LY
|
175 |
218 |
2.22e-12 |
SMART |
LY
|
219 |
258 |
3.25e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167487
AA Change: C161R
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127329 Gene: ENSMUSG00000024924 AA Change: C161R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
LY
|
461 |
503 |
2.16e-1 |
SMART |
LY
|
505 |
547 |
9.54e-12 |
SMART |
LY
|
548 |
591 |
2.22e-12 |
SMART |
LY
|
592 |
634 |
1.66e-11 |
SMART |
LY
|
635 |
678 |
5.97e-4 |
SMART |
EGF
|
705 |
750 |
2.16e-1 |
SMART |
transmembrane domain
|
797 |
819 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172302
AA Change: C161R
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000126730 Gene: ENSMUSG00000024924 AA Change: C161R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
EGF_like
|
32 |
68 |
7.38e1 |
SMART |
LDLa
|
32 |
69 |
1.69e-16 |
SMART |
LDLa
|
71 |
110 |
5.81e-15 |
SMART |
LDLa
|
112 |
151 |
1.96e-12 |
SMART |
LDLa
|
153 |
190 |
7.15e-15 |
SMART |
LDLa
|
192 |
231 |
1.23e-13 |
SMART |
LDLa
|
238 |
275 |
1.1e-15 |
SMART |
LDLa
|
277 |
314 |
1.13e-12 |
SMART |
LDLa
|
317 |
357 |
3.86e-11 |
SMART |
EGF_CA
|
356 |
395 |
1e-5 |
SMART |
EGF_CA
|
396 |
435 |
6.1e-10 |
SMART |
LY
|
461 |
503 |
2.16e-1 |
SMART |
LY
|
505 |
547 |
9.54e-12 |
SMART |
LY
|
548 |
591 |
2.22e-12 |
SMART |
LY
|
592 |
634 |
1.66e-11 |
SMART |
LY
|
635 |
678 |
5.97e-4 |
SMART |
EGF
|
705 |
750 |
2.16e-1 |
SMART |
transmembrane domain
|
769 |
791 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009] PHENOTYPE: Homozygous null mutants exhibit modest reductions in body weight and adiposity. In behavioral tests, mutants display deficits in contextual fear conditioning and long term potentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,738,213 (GRCm39) |
V1104D |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
E2f8 |
T |
C |
7: 48,516,982 (GRCm39) |
|
probably null |
Het |
Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
T |
C |
13: 76,065,843 (GRCm39) |
D180G |
probably damaging |
Het |
Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
Txnrd2 |
A |
G |
16: 18,287,590 (GRCm39) |
E331G |
probably benign |
Het |
Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
Het |
Ypel1 |
A |
T |
16: 16,923,872 (GRCm39) |
V59D |
probably benign |
Het |
|
Other mutations in Vldlr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01346:Vldlr
|
APN |
19 |
27,217,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01575:Vldlr
|
APN |
19 |
27,224,031 (GRCm39) |
missense |
probably benign |
|
IGL01626:Vldlr
|
APN |
19 |
27,221,173 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02213:Vldlr
|
APN |
19 |
27,218,726 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02365:Vldlr
|
APN |
19 |
27,223,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02488:Vldlr
|
APN |
19 |
27,215,675 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Vldlr
|
APN |
19 |
27,217,120 (GRCm39) |
missense |
probably benign |
0.03 |
disturbed
|
UTSW |
19 |
27,216,204 (GRCm39) |
nonsense |
probably null |
|
r26
|
UTSW |
19 |
27,223,054 (GRCm39) |
missense |
probably damaging |
0.99 |
spotty
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Vldlr
|
UTSW |
19 |
27,212,269 (GRCm39) |
missense |
probably benign |
0.05 |
R0195:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R0288:Vldlr
|
UTSW |
19 |
27,218,051 (GRCm39) |
splice site |
probably benign |
|
R0536:Vldlr
|
UTSW |
19 |
27,217,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R0537:Vldlr
|
UTSW |
19 |
27,225,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Vldlr
|
UTSW |
19 |
27,213,655 (GRCm39) |
missense |
probably benign |
0.01 |
R0594:Vldlr
|
UTSW |
19 |
27,212,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R0624:Vldlr
|
UTSW |
19 |
27,215,663 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0726:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1017:Vldlr
|
UTSW |
19 |
27,218,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1148:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1443:Vldlr
|
UTSW |
19 |
27,217,121 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1493:Vldlr
|
UTSW |
19 |
27,218,691 (GRCm39) |
missense |
probably benign |
0.01 |
R1520:Vldlr
|
UTSW |
19 |
27,224,466 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1520:Vldlr
|
UTSW |
19 |
27,217,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R1657:Vldlr
|
UTSW |
19 |
27,223,070 (GRCm39) |
missense |
probably benign |
0.00 |
R1901:Vldlr
|
UTSW |
19 |
27,218,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R2047:Vldlr
|
UTSW |
19 |
27,212,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Vldlr
|
UTSW |
19 |
27,215,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Vldlr
|
UTSW |
19 |
27,225,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Vldlr
|
UTSW |
19 |
27,213,688 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3196:Vldlr
|
UTSW |
19 |
27,220,554 (GRCm39) |
missense |
probably damaging |
0.98 |
R3752:Vldlr
|
UTSW |
19 |
27,215,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Vldlr
|
UTSW |
19 |
27,195,021 (GRCm39) |
missense |
probably damaging |
0.99 |
R3835:Vldlr
|
UTSW |
19 |
27,212,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Vldlr
|
UTSW |
19 |
27,215,713 (GRCm39) |
missense |
probably benign |
|
R4301:Vldlr
|
UTSW |
19 |
27,215,802 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4470:Vldlr
|
UTSW |
19 |
27,212,219 (GRCm39) |
missense |
probably damaging |
0.96 |
R4541:Vldlr
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Vldlr
|
UTSW |
19 |
27,217,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Vldlr
|
UTSW |
19 |
27,217,290 (GRCm39) |
missense |
probably damaging |
0.97 |
R4795:Vldlr
|
UTSW |
19 |
27,216,252 (GRCm39) |
splice site |
probably null |
|
R4839:Vldlr
|
UTSW |
19 |
27,215,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Vldlr
|
UTSW |
19 |
27,215,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Vldlr
|
UTSW |
19 |
27,216,212 (GRCm39) |
nonsense |
probably null |
|
R5281:Vldlr
|
UTSW |
19 |
27,221,631 (GRCm39) |
missense |
probably benign |
0.44 |
R5466:Vldlr
|
UTSW |
19 |
27,217,243 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5514:Vldlr
|
UTSW |
19 |
27,221,624 (GRCm39) |
missense |
probably damaging |
0.97 |
R5886:Vldlr
|
UTSW |
19 |
27,221,171 (GRCm39) |
missense |
probably benign |
0.03 |
R5889:Vldlr
|
UTSW |
19 |
27,217,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:Vldlr
|
UTSW |
19 |
27,215,477 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6343:Vldlr
|
UTSW |
19 |
27,223,049 (GRCm39) |
missense |
probably damaging |
0.99 |
R6833:Vldlr
|
UTSW |
19 |
27,217,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:Vldlr
|
UTSW |
19 |
27,225,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Vldlr
|
UTSW |
19 |
27,221,728 (GRCm39) |
missense |
probably benign |
|
R7197:Vldlr
|
UTSW |
19 |
27,212,241 (GRCm39) |
missense |
probably benign |
0.36 |
R7304:Vldlr
|
UTSW |
19 |
27,216,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7403:Vldlr
|
UTSW |
19 |
27,213,674 (GRCm39) |
nonsense |
probably null |
|
R7658:Vldlr
|
UTSW |
19 |
27,220,536 (GRCm39) |
missense |
probably benign |
0.33 |
R7754:Vldlr
|
UTSW |
19 |
27,195,015 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R8105:Vldlr
|
UTSW |
19 |
27,216,204 (GRCm39) |
nonsense |
probably null |
|
R8377:Vldlr
|
UTSW |
19 |
27,212,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R8529:Vldlr
|
UTSW |
19 |
27,207,656 (GRCm39) |
missense |
probably benign |
0.03 |
R8777:Vldlr
|
UTSW |
19 |
27,217,946 (GRCm39) |
missense |
probably benign |
0.00 |
R8777-TAIL:Vldlr
|
UTSW |
19 |
27,217,946 (GRCm39) |
missense |
probably benign |
0.00 |
R9380:Vldlr
|
UTSW |
19 |
27,216,192 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9400:Vldlr
|
UTSW |
19 |
27,216,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R9483:Vldlr
|
UTSW |
19 |
27,224,031 (GRCm39) |
missense |
probably benign |
0.00 |
R9502:Vldlr
|
UTSW |
19 |
27,218,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Vldlr
|
UTSW |
19 |
27,221,687 (GRCm39) |
missense |
probably benign |
0.44 |
R9630:Vldlr
|
UTSW |
19 |
27,207,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9767:Vldlr
|
UTSW |
19 |
27,212,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R9768:Vldlr
|
UTSW |
19 |
27,218,720 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2015-04-16 |