Incidental Mutation 'R5657:Sun2'
ID |
442399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sun2
|
Ensembl Gene |
ENSMUSG00000042524 |
Gene Name |
Sad1 and UNC84 domain containing 2 |
Synonyms |
B230369L08Rik, Unc84b |
MMRRC Submission |
043171-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
79608271-79626737 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 79612150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 510
(E510*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046259]
[ENSMUST00000089311]
[ENSMUST00000100439]
|
AlphaFold |
Q8BJS4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046259
AA Change: E512*
|
SMART Domains |
Protein: ENSMUSP00000047864 Gene: ENSMUSG00000042524 AA Change: E512*
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 |
probably null
Transcript: ENSMUST00000089311
AA Change: E480*
|
SMART Domains |
Protein: ENSMUSP00000086724 Gene: ENSMUSG00000042524 AA Change: E480*
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 |
probably null
Transcript: ENSMUST00000100439
AA Change: E510*
|
SMART Domains |
Protein: ENSMUSP00000098006 Gene: ENSMUSG00000042524 AA Change: E510*
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
A |
G |
5: 31,051,390 (GRCm39) |
Y533C |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,991,979 (GRCm39) |
V4421A |
probably damaging |
Het |
Bach1 |
A |
G |
16: 87,516,173 (GRCm39) |
K238R |
probably benign |
Het |
Bloc1s6 |
T |
A |
2: 122,580,577 (GRCm39) |
V12D |
probably benign |
Het |
Clca3b |
C |
A |
3: 144,533,144 (GRCm39) |
L629F |
probably benign |
Het |
Clhc1 |
A |
G |
11: 29,511,431 (GRCm39) |
I292V |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,143,547 (GRCm39) |
S412P |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,949,397 (GRCm39) |
I746T |
probably damaging |
Het |
Cracr2a |
G |
A |
6: 127,580,970 (GRCm39) |
A49T |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,108,008 (GRCm39) |
I28T |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,847,352 (GRCm39) |
M4264L |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,105,736 (GRCm39) |
L412S |
probably damaging |
Het |
Dpf3 |
T |
C |
12: 83,371,785 (GRCm39) |
N150S |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,050,805 (GRCm39) |
C854R |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,201,507 (GRCm39) |
Y522* |
probably null |
Het |
Foxm1 |
A |
T |
6: 128,350,351 (GRCm39) |
S551C |
possibly damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,150 (GRCm39) |
V136A |
possibly damaging |
Het |
Gm6647 |
T |
G |
5: 13,818,835 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
A |
6: 135,710,085 (GRCm39) |
I1154F |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,534,313 (GRCm39) |
V2987A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,707,814 (GRCm39) |
S800P |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,366 (GRCm39) |
N195S |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plod1 |
T |
C |
4: 148,003,238 (GRCm39) |
E529G |
possibly damaging |
Het |
Plppr2 |
T |
C |
9: 21,858,911 (GRCm39) |
C343R |
probably damaging |
Het |
Prpf38a |
T |
C |
4: 108,425,621 (GRCm39) |
D219G |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,346,204 (GRCm39) |
E122K |
probably benign |
Het |
Rabl2 |
T |
C |
15: 89,472,416 (GRCm39) |
M38V |
probably benign |
Het |
Reep1 |
A |
G |
6: 71,738,358 (GRCm39) |
M39V |
possibly damaging |
Het |
Rsf1 |
GC |
GCGGCGGCGTC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
Slc26a10 |
T |
C |
10: 127,010,833 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,665,051 (GRCm39) |
|
probably null |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tor1aip1 |
G |
T |
1: 155,883,234 (GRCm39) |
H205N |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,609,808 (GRCm39) |
T92I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,725,178 (GRCm39) |
F36I |
probably benign |
Het |
Zfp787 |
T |
C |
7: 6,136,053 (GRCm39) |
Y66C |
probably 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 |
R2358:Sun2
|
UTSW |
15 |
79,612,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- CTGAGCCCAGAATCTACACCTG -3'
(R):5'- ATAGCTGCCCCTGCCATTAG -3'
Sequencing Primer
(F):5'- CAGGAGGGTCTATCATGTCCTAAC -3'
(R):5'- CCATTAGTGCAAGCTTCTGAGTGAC -3'
|
Posted On |
2016-11-09 |