Incidental Mutation 'R3548:Sort1'
| ID |
268298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sort1
|
| Ensembl Gene |
ENSMUSG00000068747 |
| Gene Name |
sortilin 1 |
| Synonyms |
Ntsr3, neurotensin receptor 3, Ntr3, sortilin, 2900053A11Rik |
| MMRRC Submission |
040667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.810)
|
| Stock # |
R3548 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108191398-108268827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108245225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 359
(V359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102632]
[ENSMUST00000135636]
|
| AlphaFold |
Q6PHU5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102632
AA Change: V359A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
79 |
N/A |
INTRINSIC |
|
VPS10
|
131 |
743 |
N/A |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135636
AA Change: V359A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: V359A
| Domain | Start | End | E-Value | Type |
|---|
|
VPS10
|
1 |
218 |
2.3e-5 |
SMART |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3688 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
| Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
probably damaging |
Het |
|
| Other mutations in Sort1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Sort1
|
APN |
3 |
108,263,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01677:Sort1
|
APN |
3 |
108,252,201 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02532:Sort1
|
APN |
3 |
108,233,036 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03354:Sort1
|
APN |
3 |
108,256,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0266:Sort1
|
UTSW |
3 |
108,252,247 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0277:Sort1
|
UTSW |
3 |
108,231,908 (GRCm39) |
splice site |
probably benign |
|
|
R0559:Sort1
|
UTSW |
3 |
108,263,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Sort1
|
UTSW |
3 |
108,246,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Sort1
|
UTSW |
3 |
108,255,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Sort1
|
UTSW |
3 |
108,233,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Sort1
|
UTSW |
3 |
108,248,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Sort1
|
UTSW |
3 |
108,253,043 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2130:Sort1
|
UTSW |
3 |
108,259,002 (GRCm39) |
missense |
probably benign |
|
|
R2131:Sort1
|
UTSW |
3 |
108,259,002 (GRCm39) |
missense |
probably benign |
|
|
R2133:Sort1
|
UTSW |
3 |
108,259,002 (GRCm39) |
missense |
probably benign |
|
|
R2362:Sort1
|
UTSW |
3 |
108,253,981 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3436:Sort1
|
UTSW |
3 |
108,245,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Sort1
|
UTSW |
3 |
108,263,955 (GRCm39) |
nonsense |
probably null |
|
|
R4496:Sort1
|
UTSW |
3 |
108,217,461 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4616:Sort1
|
UTSW |
3 |
108,262,857 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4632:Sort1
|
UTSW |
3 |
108,253,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Sort1
|
UTSW |
3 |
108,263,639 (GRCm39) |
nonsense |
probably null |
|
|
R4994:Sort1
|
UTSW |
3 |
108,235,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5187:Sort1
|
UTSW |
3 |
108,231,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Sort1
|
UTSW |
3 |
108,253,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Sort1
|
UTSW |
3 |
108,264,549 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6262:Sort1
|
UTSW |
3 |
108,217,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7369:Sort1
|
UTSW |
3 |
108,258,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Sort1
|
UTSW |
3 |
108,246,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Sort1
|
UTSW |
3 |
108,233,323 (GRCm39) |
splice site |
probably null |
|
|
R8076:Sort1
|
UTSW |
3 |
108,246,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Sort1
|
UTSW |
3 |
108,241,951 (GRCm39) |
missense |
probably benign |
|
|
R8871:Sort1
|
UTSW |
3 |
108,262,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8894:Sort1
|
UTSW |
3 |
108,246,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Sort1
|
UTSW |
3 |
108,247,994 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Sort1
|
UTSW |
3 |
108,191,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGACATGACACCTTCACAG -3'
(R):5'- TGAACAGGTACCCACAGCTC -3'
Sequencing Primer
(F):5'- ATGTGTCAACAGACCAGG -3'
(R):5'- CTCTGGGAAGCTCTGCTCTAAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation