Incidental Mutation 'R6890:Snx2'
| ID |
537177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx2
|
| Ensembl Gene |
ENSMUSG00000034484 |
| Gene Name |
sorting nexin 2 |
| Synonyms |
0610030A03Rik |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
53309388-53353937 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53345951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 378
(H378R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037850]
|
| AlphaFold |
Q9CWK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037850
AA Change: H378R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039243
Gene: ENSMUSG00000034484
AA Change: H378R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sorting_nexin
|
2 |
134 |
1.6e-29 |
PFAM |
|
PX
|
138 |
265 |
1.4e-38 |
SMART |
|
Pfam:Vps5
|
281 |
514 |
2.2e-90 |
PFAM |
|
| Meta Mutation Damage Score |
0.0809 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Snx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Snx2
|
APN |
18 |
53,349,472 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00861:Snx2
|
APN |
18 |
53,343,869 (GRCm39) |
splice site |
probably null |
|
|
IGL01116:Snx2
|
APN |
18 |
53,327,495 (GRCm39) |
splice site |
probably benign |
|
|
IGL01642:Snx2
|
APN |
18 |
53,349,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02178:Snx2
|
APN |
18 |
53,332,857 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02368:Snx2
|
APN |
18 |
53,322,793 (GRCm39) |
missense |
probably benign |
|
|
IGL02597:Snx2
|
APN |
18 |
53,343,444 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02964:Snx2
|
APN |
18 |
53,327,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03372:Snx2
|
APN |
18 |
53,349,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blanched
|
UTSW |
18 |
53,327,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
bleached
|
UTSW |
18 |
53,330,997 (GRCm39) |
splice site |
probably null |
|
|
R0332:Snx2
|
UTSW |
18 |
53,345,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0723:Snx2
|
UTSW |
18 |
53,343,444 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0746:Snx2
|
UTSW |
18 |
53,330,961 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0826:Snx2
|
UTSW |
18 |
53,327,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Snx2
|
UTSW |
18 |
53,309,488 (GRCm39) |
missense |
probably benign |
|
|
R0970:Snx2
|
UTSW |
18 |
53,343,762 (GRCm39) |
splice site |
probably benign |
|
|
R1897:Snx2
|
UTSW |
18 |
53,330,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Snx2
|
UTSW |
18 |
53,327,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2910:Snx2
|
UTSW |
18 |
53,332,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2911:Snx2
|
UTSW |
18 |
53,332,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4460:Snx2
|
UTSW |
18 |
53,309,516 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5225:Snx2
|
UTSW |
18 |
53,322,784 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5352:Snx2
|
UTSW |
18 |
53,330,997 (GRCm39) |
splice site |
probably null |
|
|
R5450:Snx2
|
UTSW |
18 |
53,343,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5576:Snx2
|
UTSW |
18 |
53,343,822 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5965:Snx2
|
UTSW |
18 |
53,327,534 (GRCm39) |
nonsense |
probably null |
|
|
R6063:Snx2
|
UTSW |
18 |
53,342,697 (GRCm39) |
nonsense |
probably null |
|
|
R6222:Snx2
|
UTSW |
18 |
53,332,896 (GRCm39) |
nonsense |
probably null |
|
|
R6291:Snx2
|
UTSW |
18 |
53,342,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7380:Snx2
|
UTSW |
18 |
53,327,640 (GRCm39) |
missense |
probably benign |
|
|
R8081:Snx2
|
UTSW |
18 |
53,349,459 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8363:Snx2
|
UTSW |
18 |
53,330,936 (GRCm39) |
nonsense |
probably null |
|
|
R9451:Snx2
|
UTSW |
18 |
53,343,415 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTCCATACAGCAGTGG -3'
(R):5'- GTACTGCAGTATAAGATTTGCACAC -3'
Sequencing Primer
(F):5'- CTTCTGAGCATCTATGTCCAAAGCAG -3'
(R):5'- ACTATGTAGACCAGGCTAGCTCTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation