Incidental Mutation 'R2358:Sun2'
| ID |
247035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sun2
|
| Ensembl Gene |
ENSMUSG00000042524 |
| Gene Name |
Sad1 and UNC84 domain containing 2 |
| Synonyms |
B230369L08Rik, Unc84b |
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79608271-79626737 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79612114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 522
(S522P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000089311]
[ENSMUST00000100439]
|
| AlphaFold |
Q8BJS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046259
AA Change: S524P
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: S524P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
453 |
N/A |
INTRINSIC |
|
coiled coil region
|
491 |
519 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
595 |
729 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089311
AA Change: S492P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: S492P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
307 |
N/A |
INTRINSIC |
|
coiled coil region
|
386 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
459 |
487 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
563 |
697 |
1.1e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100439
AA Change: S522P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: S522P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
174 |
196 |
N/A |
INTRINSIC |
|
transmembrane domain
|
224 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
|
coiled coil region
|
416 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
489 |
517 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
593 |
727 |
1.2e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231189
|
| Meta Mutation Damage Score |
0.3149 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly damaging |
Het |
|
| Other mutations in Sun2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03325:Sun2
|
APN |
15 |
79,622,849 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0049:Sun2
|
UTSW |
15 |
79,611,810 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Sun2
|
UTSW |
15 |
79,611,810 (GRCm39) |
splice site |
probably benign |
|
|
R0189:Sun2
|
UTSW |
15 |
79,621,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Sun2
|
UTSW |
15 |
79,614,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Sun2
|
UTSW |
15 |
79,612,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Sun2
|
UTSW |
15 |
79,609,758 (GRCm39) |
missense |
probably benign |
|
|
R1767:Sun2
|
UTSW |
15 |
79,609,758 (GRCm39) |
missense |
probably benign |
|
|
R1843:Sun2
|
UTSW |
15 |
79,621,764 (GRCm39) |
missense |
probably benign |
|
|
R2005:Sun2
|
UTSW |
15 |
79,610,825 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2062:Sun2
|
UTSW |
15 |
79,622,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Sun2
|
UTSW |
15 |
79,612,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3937:Sun2
|
UTSW |
15 |
79,618,356 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3938:Sun2
|
UTSW |
15 |
79,618,356 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4869:Sun2
|
UTSW |
15 |
79,612,587 (GRCm39) |
intron |
probably benign |
|
|
R4871:Sun2
|
UTSW |
15 |
79,611,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Sun2
|
UTSW |
15 |
79,611,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Sun2
|
UTSW |
15 |
79,621,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5555:Sun2
|
UTSW |
15 |
79,618,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5657:Sun2
|
UTSW |
15 |
79,612,150 (GRCm39) |
nonsense |
probably null |
|
|
R5662:Sun2
|
UTSW |
15 |
79,623,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6144:Sun2
|
UTSW |
15 |
79,614,533 (GRCm39) |
missense |
probably benign |
|
|
R6975:Sun2
|
UTSW |
15 |
79,618,420 (GRCm39) |
nonsense |
probably null |
|
|
R7127:Sun2
|
UTSW |
15 |
79,612,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7358:Sun2
|
UTSW |
15 |
79,618,313 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7614:Sun2
|
UTSW |
15 |
79,623,225 (GRCm39) |
splice site |
probably null |
|
|
R8181:Sun2
|
UTSW |
15 |
79,609,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8343:Sun2
|
UTSW |
15 |
79,623,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Sun2
|
UTSW |
15 |
79,612,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9117:Sun2
|
UTSW |
15 |
79,614,517 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9186:Sun2
|
UTSW |
15 |
79,611,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Sun2
|
UTSW |
15 |
79,622,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Sun2
|
UTSW |
15 |
79,622,721 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGCTTTGTTCATTCCAC -3'
(R):5'- TGACACTGCCTTTGTCTGTAGG -3'
Sequencing Primer
(F):5'- TGTTCATTCCACCACCCACAC -3'
(R):5'- CTGTAGGTGGAATCCCAGTTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation