Incidental Mutation 'R2005:Sun2'
ID 225438
Institutional Source Beutler Lab
Gene Symbol Sun2
Ensembl Gene ENSMUSG00000042524
Gene Name Sad1 and UNC84 domain containing 2
Synonyms B230369L08Rik, Unc84b
MMRRC Submission 040014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2005 (G1)
Quality Score 210
Status Not validated
Chromosome 15
Chromosomal Location 79608271-79626737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79610825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 667 (E667G)
Ref Sequence ENSEMBL: ENSMUSP00000047864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000089311] [ENSMUST00000100439]
AlphaFold Q8BJS4
Predicted Effect possibly damaging
Transcript: ENSMUST00000046259
AA Change: E667G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: E667G

DomainStartEndE-ValueType
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: E635G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: E635G

DomainStartEndE-ValueType
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: E665G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: E665G

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,841,562 (GRCm39) A961V probably benign Het
Adcy10 A G 1: 165,352,591 (GRCm39) Y475C probably benign Het
Adgrb3 T C 1: 25,150,799 (GRCm39) M1145V probably benign Het
Akr1c21 A G 13: 4,624,214 (GRCm39) T23A probably damaging Het
Ankrd33b A T 15: 31,297,814 (GRCm39) S314R probably damaging Het
Apc T C 18: 34,443,962 (GRCm39) probably null Het
Atg9a T A 1: 75,162,635 (GRCm39) Q460L probably benign Het
Birc2 C T 9: 7,860,342 (GRCm39) C292Y probably damaging Het
Capn5 T C 7: 97,778,570 (GRCm39) I350V probably benign Het
Cc2d2a G A 5: 43,883,715 (GRCm39) probably null Het
Cdh22 T A 2: 165,022,843 (GRCm39) E76V probably damaging Het
Cdh8 T C 8: 99,760,103 (GRCm39) probably null Het
Cdkn1b ATTCTTCTTC ATTCTTCTTCTTC 6: 134,898,919 (GRCm39) probably benign Het
Cfap54 T A 10: 92,720,630 (GRCm39) D2608V unknown Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Cwf19l2 A T 9: 3,430,720 (GRCm39) N351Y possibly damaging Het
Cyp2c67 A T 19: 39,631,789 (GRCm39) M136K probably damaging Het
Ddx10 A G 9: 53,151,775 (GRCm39) probably null Het
Ddx47 A G 6: 134,995,084 (GRCm39) N92S probably benign Het
Ddx50 T A 10: 62,476,243 (GRCm39) H306L probably benign Het
Dnajc27 A G 12: 4,147,317 (GRCm39) T167A possibly damaging Het
Dscam T G 16: 96,840,120 (GRCm39) K162N probably benign Het
Eif4h G A 5: 134,656,531 (GRCm39) T53I probably benign Het
Elmo2 T C 2: 165,140,199 (GRCm39) N332S probably benign Het
Ergic3 A G 2: 155,853,028 (GRCm39) N157S possibly damaging Het
F2rl1 G T 13: 95,649,782 (GRCm39) R367S probably damaging Het
Fbxo36 G A 1: 84,877,790 (GRCm39) A151T probably benign Het
Foxf2 G T 13: 31,810,124 (GRCm39) R21L unknown Het
Gmip T A 8: 70,266,693 (GRCm39) H269Q probably benign Het
Gng4 T A 13: 13,980,751 (GRCm39) V32E probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Helz2 C T 2: 180,873,122 (GRCm39) R2396H probably benign Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Itgb3bp A C 4: 99,702,295 (GRCm39) N16K probably benign Het
Kcnt2 A G 1: 140,480,756 (GRCm39) M824V probably damaging Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mmp25 G A 17: 23,859,216 (GRCm39) R144W probably damaging Het
Mmrn1 A T 6: 60,953,068 (GRCm39) I450F possibly damaging Het
Mroh2b A T 15: 4,946,640 (GRCm39) K480M probably damaging Het
Nbn T A 4: 15,979,351 (GRCm39) D445E probably benign Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Or10ag56 T A 2: 87,139,792 (GRCm39) S240T probably benign Het
Or1e19 A T 11: 73,316,065 (GRCm39) V248E probably damaging Het
Or5d38 A G 2: 87,954,891 (GRCm39) L146P probably damaging Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Pard3b A T 1: 62,184,050 (GRCm39) E183D probably benign Het
Pde10a G A 17: 9,147,923 (GRCm39) probably null Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Prdm13 T C 4: 21,685,695 (GRCm39) probably benign Het
Rc3h2 T A 2: 37,279,765 (GRCm39) K461* probably null Het
Reep2 C T 18: 34,978,674 (GRCm39) T117M probably damaging Het
Rhbdd1 A G 1: 82,318,531 (GRCm39) N138S probably benign Het
Rnf19a A T 15: 36,241,916 (GRCm39) F708I possibly damaging Het
Robo2 G A 16: 73,730,003 (GRCm39) H1069Y possibly damaging Het
Rpl9 C T 5: 65,546,878 (GRCm39) V112I probably benign Het
Sec16a A C 2: 26,329,092 (GRCm39) S974R probably benign Het
Sfrp5 A G 19: 42,187,275 (GRCm39) M265T probably benign Het
Skint7 T C 4: 111,842,047 (GRCm39) I305T probably benign Het
Slc6a7 T C 18: 61,134,713 (GRCm39) D454G possibly damaging Het
Slco6c1 A G 1: 97,009,214 (GRCm39) I407T probably damaging Het
Slfn8 A T 11: 82,894,976 (GRCm39) M610K probably damaging Het
Spidr A G 16: 15,865,913 (GRCm39) S299P probably damaging Het
Sptbn4 C T 7: 27,065,844 (GRCm39) W2034* probably null Het
Stard9 T A 2: 120,495,426 (GRCm39) F100L possibly damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stc1 T C 14: 69,269,096 (GRCm39) probably null Het
Tacc2 T C 7: 130,333,280 (GRCm39) S511P probably damaging Het
Tasp1 T G 2: 139,819,598 (GRCm39) K202Q probably damaging Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tgds A G 14: 118,368,068 (GRCm39) V35A possibly damaging Het
Tubgcp6 G A 15: 88,988,369 (GRCm39) T860I probably benign Het
Twf1 C T 15: 94,483,328 (GRCm39) probably null Het
Vangl1 A G 3: 102,070,782 (GRCm39) S385P probably benign Het
Vmn2r117 A G 17: 23,696,618 (GRCm39) I263T probably damaging Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wnk4 T C 11: 101,154,716 (GRCm39) C302R probably damaging Het
Zfp395 A G 14: 65,626,334 (GRCm39) E191G possibly damaging Het
Zkscan17 A G 11: 59,383,042 (GRCm39) L302P probably damaging Het
Other mutations in Sun2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TAGGAAGATAGGCCCATCCCTG -3'
(R):5'- CTATCTCCAGTGCTCCCAAG -3'

Sequencing Primer
(F):5'- GAAGATAGGCCCATCCCTGATTCC -3'
(R):5'- CAAGGACTTCGCCATCTTTGTGAG -3'
Posted On 2014-08-25