Incidental Mutation 'R1183:Sun2'
ID 101820
Institutional Source Beutler Lab
Gene Symbol Sun2
Ensembl Gene ENSMUSG00000042524
Gene Name Sad1 and UNC84 domain containing 2
Synonyms B230369L08Rik, Unc84b
MMRRC Submission 039255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1183 (G1)
Quality Score 126
Status Not validated
Chromosome 15
Chromosomal Location 79608271-79626737 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79612669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 417 (V417E)
Ref Sequence ENSEMBL: ENSMUSP00000086724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046259] [ENSMUST00000089311] [ENSMUST00000100439]
AlphaFold Q8BJS4
Predicted Effect probably damaging
Transcript: ENSMUST00000046259
AA Change: V449E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047864
Gene: ENSMUSG00000042524
AA Change: V449E

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 probably damaging
Transcript: ENSMUST00000089311
AA Change: V417E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086724
Gene: ENSMUSG00000042524
AA Change: V417E

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 probably damaging
Transcript: ENSMUST00000100439
AA Change: V447E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098006
Gene: ENSMUSG00000042524
AA Change: V447E

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: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,768,206 (GRCm39) Y192* probably null Het
Abcc6 T C 7: 45,634,677 (GRCm39) Y1100C probably damaging Het
Adamtsl2 T C 2: 26,974,092 (GRCm39) W132R probably damaging Het
Adgra2 T A 8: 27,604,416 (GRCm39) V497E probably damaging Het
Adtrp T G 13: 41,981,813 (GRCm39) probably benign Het
Alg9 T A 9: 50,700,833 (GRCm39) L201Q possibly damaging Het
Ap4e1 T A 2: 126,856,121 (GRCm39) I84K probably damaging Het
Atrnl1 T C 19: 57,638,725 (GRCm39) S288P probably damaging Het
Bltp1 T A 3: 36,949,452 (GRCm39) L366Q possibly damaging Het
Cacna1a A G 8: 85,306,846 (GRCm39) D1367G probably damaging Het
Card19 C T 13: 49,358,727 (GRCm39) R82Q probably damaging Het
Cep128 T C 12: 91,292,372 (GRCm39) I226V possibly damaging Het
Ces1f A C 8: 93,994,633 (GRCm39) D259E probably benign Het
Ckap5 T A 2: 91,416,611 (GRCm39) M1072K probably benign Het
Dcpp2 T A 17: 24,119,468 (GRCm39) V94D probably benign Het
Dnah2 T C 11: 69,337,474 (GRCm39) D3209G possibly damaging Het
Dsg1c A G 18: 20,416,255 (GRCm39) T719A probably damaging Het
Dsp G A 13: 38,375,716 (GRCm39) W1167* probably null Het
Eml5 T C 12: 98,758,305 (GRCm39) I1874V probably benign Het
Epg5 A G 18: 78,003,926 (GRCm39) T645A probably damaging Het
F2rl2 T C 13: 95,837,621 (GRCm39) L222S probably damaging Het
Fam114a1 T A 5: 65,191,731 (GRCm39) C495S probably damaging Het
Fbn1 A T 2: 125,163,537 (GRCm39) D2106E probably benign Het
Fgf14 T A 14: 124,913,936 (GRCm39) N65I probably benign Het
Fip1l1 T C 5: 74,755,763 (GRCm39) Y497H probably damaging Het
Fn1 A C 1: 71,625,404 (GRCm39) D2376E probably damaging Het
Foxd2 T C 4: 114,764,662 (GRCm39) T453A possibly damaging Het
Galnt1 G T 18: 24,404,647 (GRCm39) W328L probably damaging Het
Gapt A G 13: 110,490,372 (GRCm39) V97A possibly damaging Het
Gatad1 A G 5: 3,693,707 (GRCm39) V154A possibly damaging Het
Gdf15 A G 8: 71,084,202 (GRCm39) F21L probably benign Het
Igdcc4 T C 9: 65,029,182 (GRCm39) F273S possibly damaging Het
Invs A T 4: 48,421,725 (GRCm39) R786W possibly damaging Het
Itfg1 T G 8: 86,507,152 (GRCm39) E236A probably benign Het
Jak3 A T 8: 72,137,194 (GRCm39) I752F probably damaging Het
Kcnip3 C A 2: 127,306,985 (GRCm39) G144W probably damaging Het
Kctd19 T C 8: 106,109,598 (GRCm39) H925R probably benign Het
Kdr C T 5: 76,107,511 (GRCm39) A1011T probably damaging Het
Kif13b C A 14: 65,019,826 (GRCm39) H1398Q probably benign Het
Lrp4 A T 2: 91,307,864 (GRCm39) probably null Het
Lrtm2 T C 6: 119,297,846 (GRCm39) D65G probably benign Het
Lyz1 A G 10: 117,128,715 (GRCm39) L10P probably damaging Het
Metap2 A T 10: 93,706,046 (GRCm39) N245K probably damaging Het
Mms19 T C 19: 41,943,270 (GRCm39) D297G possibly damaging Het
Mocs3 A G 2: 168,073,573 (GRCm39) D340G possibly damaging Het
Mtfr1l A G 4: 134,256,436 (GRCm39) L243P probably damaging Het
Mtss1 A G 15: 58,842,897 (GRCm39) I105T probably damaging Het
Myo18a T C 11: 77,748,571 (GRCm39) S1967P probably damaging Het
Ncor2 T C 5: 125,100,585 (GRCm39) N2248S possibly damaging Het
Nfatc2 T C 2: 168,432,008 (GRCm39) D35G possibly damaging Het
Nup210l T A 3: 90,067,252 (GRCm39) M764K probably benign Het
Or10a3n A G 7: 108,492,948 (GRCm39) L222P probably damaging Het
Otof T C 5: 30,529,256 (GRCm39) S1753G probably damaging Het
Otog G A 7: 45,939,179 (GRCm39) V2070I probably benign Het
Piezo2 A G 18: 63,219,824 (GRCm39) V961A probably damaging Het
Pofut1 C T 2: 153,103,158 (GRCm39) S169L probably benign Het
Ppp1r10 T A 17: 36,240,335 (GRCm39) S542T possibly damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Ptges3l T C 11: 101,312,731 (GRCm39) D113G possibly damaging Het
Pycr3 G A 15: 75,790,647 (GRCm39) L71F probably benign Het
Ramp3 A G 11: 6,624,867 (GRCm39) K54E possibly damaging Het
Rbpms C A 8: 34,294,100 (GRCm39) Q214H possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo4 C A 9: 37,319,348 (GRCm39) D565E probably damaging Het
S100a1 C T 3: 90,418,641 (GRCm39) V58I probably benign Het
Setx T A 2: 29,070,104 (GRCm39) D2636E probably benign Het
Tbccd1 T C 16: 22,660,519 (GRCm39) N99S probably benign Het
Tex15 A G 8: 34,064,893 (GRCm39) D1441G probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Trim32 A G 4: 65,532,628 (GRCm39) Y395C probably benign Het
Trpm2 A G 10: 77,759,398 (GRCm39) Y1129H probably damaging Het
Trpm8 A T 1: 88,275,813 (GRCm39) R470S probably damaging Het
Tsg101 G T 7: 46,539,372 (GRCm39) D389E probably benign Het
Ubn1 T C 16: 4,882,406 (GRCm39) L46P probably damaging Het
Ubr5 T C 15: 37,997,419 (GRCm39) I1745V possibly damaging Het
Usp20 T C 2: 30,901,797 (GRCm39) Y521H probably benign Het
Vmn1r159 A T 7: 22,543,019 (GRCm39) H4Q probably null Het
Vmn2r27 T A 6: 124,177,491 (GRCm39) E504D probably benign Het
Wdr72 A T 9: 74,086,867 (GRCm39) I612F probably benign Het
Zbtb8a T C 4: 129,251,520 (GRCm39) H317R possibly damaging Het
Zfp507 T C 7: 35,494,315 (GRCm39) S243G probably damaging Het
Zfp764 A G 7: 127,005,419 (GRCm39) W73R probably damaging Het
Zmym4 A T 4: 126,819,632 (GRCm39) D90E 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
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
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'- TGGAAAGCATTTTCCCCAAGAGCC -3'
(R):5'- GTGAACTGTGCTGTCCAAGCCTAC -3'

Sequencing Primer
(F):5'- GCCTGCATCAGATCAGCC -3'
(R):5'- CTTCCAGCTTATGACAGGAGTCAG -3'
Posted On 2014-01-15