Incidental Mutation 'IGL02719:Sos2'
ID304898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene NameSOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02719
Quality Score
Status
Chromosome12
Chromosomal Location69583762-69681852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69617184 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 476 (Y476H)
Ref Sequence ENSEMBL: ENSMUSP00000138589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]
Predicted Effect probably benign
Transcript: ENSMUST00000035773
AA Change: Y508H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: Y508H

DomainStartEndE-ValueType
Pfam:Histone 54 169 3.7e-13 PFAM
RhoGEF 203 388 1.98e-35 SMART
PH 443 547 1.54e-14 SMART
RasGEFN 595 740 5.8e-52 SMART
RasGEF 775 1019 2.51e-92 SMART
low complexity region 1079 1099 N/A INTRINSIC
low complexity region 1144 1152 N/A INTRINSIC
low complexity region 1173 1192 N/A INTRINSIC
low complexity region 1200 1225 N/A INTRINSIC
low complexity region 1254 1269 N/A INTRINSIC
low complexity region 1276 1292 N/A INTRINSIC
low complexity region 1301 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182396
AA Change: Y476H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: Y476H

DomainStartEndE-ValueType
Pfam:Histone 97 169 1e-9 PFAM
Pfam:RhoGEF 203 344 1.6e-12 PFAM
PH 410 514 1.54e-14 SMART
RasGEFN 562 707 5.8e-52 SMART
RasGEF 742 986 2.51e-92 SMART
low complexity region 1046 1066 N/A INTRINSIC
low complexity region 1111 1119 N/A INTRINSIC
low complexity region 1140 1159 N/A INTRINSIC
low complexity region 1167 1192 N/A INTRINSIC
low complexity region 1221 1236 N/A INTRINSIC
low complexity region 1243 1259 N/A INTRINSIC
low complexity region 1268 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183277
AA Change: Y509H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: Y509H

DomainStartEndE-ValueType
Pfam:Histone 97 169 8.9e-11 PFAM
RhoGEF 203 388 1.98e-35 SMART
PH 443 547 1.54e-14 SMART
RasGEFN 595 740 5.8e-52 SMART
RasGEF 775 1019 2.51e-92 SMART
low complexity region 1079 1099 N/A INTRINSIC
low complexity region 1144 1152 N/A INTRINSIC
low complexity region 1173 1192 N/A INTRINSIC
low complexity region 1200 1225 N/A INTRINSIC
low complexity region 1254 1269 N/A INTRINSIC
low complexity region 1276 1292 N/A INTRINSIC
low complexity region 1301 1309 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183306
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,582,150 D160G probably damaging Het
Aak1 A G 6: 86,959,170 probably benign Het
Anp32e A G 3: 95,937,912 probably benign Het
Aspscr1 T A 11: 120,677,579 L61Q probably damaging Het
Btrc A G 19: 45,503,150 I89M probably damaging Het
Ccdc175 G A 12: 72,175,125 T141M probably damaging Het
Cep70 G A 9: 99,275,722 V225I probably damaging Het
Col4a1 T C 8: 11,231,950 probably benign Het
Cpne1 T C 2: 156,078,217 Y214C probably damaging Het
Crtc3 T C 7: 80,618,658 probably null Het
Cul2 C T 18: 3,434,052 A683V probably damaging Het
Ddx47 A G 6: 135,017,151 N131D probably benign Het
Dnah7b T G 1: 46,099,608 probably benign Het
Dnaic2 T C 11: 114,751,911 L446P probably damaging Het
Ergic2 T C 6: 148,204,819 T58A possibly damaging Het
Erlin2 A G 8: 27,029,675 probably benign Het
Fermt2 T C 14: 45,504,656 T78A probably damaging Het
Flg2 G T 3: 93,220,131 G97* probably null Het
Gm7356 A G 17: 14,001,275 I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 probably benign Het
Heatr5b C T 17: 78,815,540 R670H probably damaging Het
Hspa4l T C 3: 40,772,658 V476A possibly damaging Het
Ick A G 9: 78,140,019 E67G probably damaging Het
Itpkc A T 7: 27,228,050 D146E possibly damaging Het
Kcnk3 T C 5: 30,621,980 F125L probably damaging Het
Kif12 T A 4: 63,167,796 M411L probably benign Het
Krtap24-1 T C 16: 88,612,206 S11G probably benign Het
Lilra6 A T 7: 3,912,992 H289Q possibly damaging Het
Musk A C 4: 58,356,496 N469H probably benign Het
Myom1 A G 17: 71,106,354 probably benign Het
Nagpa A G 16: 5,201,493 V46A possibly damaging Het
Olfr1281 T A 2: 111,329,245 Y275* probably null Het
Olfr146 T C 9: 39,019,016 N175S probably benign Het
Olfr193 T A 16: 59,110,173 T146S probably benign Het
Parp6 T A 9: 59,630,738 V222E probably benign Het
Pde3b T A 7: 114,506,248 S472T probably damaging Het
Peak1 A G 9: 56,227,206 S1314P probably damaging Het
Pgc A G 17: 47,728,867 Y62C probably damaging Het
Pitpnm2 A G 5: 124,140,602 C189R probably damaging Het
Pla2g15 G T 8: 106,160,196 Q106H probably benign Het
Pla2g4c T A 7: 13,330,094 S93T probably damaging Het
Rbks G T 5: 31,651,801 probably benign Het
Retsat A G 6: 72,603,659 T207A possibly damaging Het
Slc25a32 A G 15: 39,099,905 Y174H probably benign Het
Slc35f2 T A 9: 53,809,742 probably benign Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Ssh2 A T 11: 77,425,587 N296I probably damaging Het
Sspo G T 6: 48,482,667 R3320L probably benign Het
Synj2 A G 17: 5,996,917 I166V probably benign Het
Tpp2 T C 1: 43,940,231 V96A probably benign Het
Vmn2r3 A T 3: 64,275,610 W223R probably damaging Het
Wdr17 T C 8: 54,693,054 probably null Het
Zfr2 T A 10: 81,244,712 C407S probably damaging Het
Other mutations in Sos2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Sos2 APN 12 69616849 splice site probably benign
IGL01348:Sos2 APN 12 69618092 missense probably damaging 0.99
IGL01360:Sos2 APN 12 69590800 missense probably benign 0.00
IGL01586:Sos2 APN 12 69607398 missense probably damaging 1.00
IGL01721:Sos2 APN 12 69603867 missense probably damaging 0.99
IGL02024:Sos2 APN 12 69618048 splice site probably benign
IGL02347:Sos2 APN 12 69596746 missense probably benign
IGL02419:Sos2 APN 12 69616990 missense probably benign
IGL02684:Sos2 APN 12 69596666 missense probably damaging 1.00
IGL03099:Sos2 APN 12 69616359 missense probably damaging 1.00
PIT4131001:Sos2 UTSW 12 69618077 missense probably benign
R0038:Sos2 UTSW 12 69596693 missense probably damaging 1.00
R0233:Sos2 UTSW 12 69617330 missense probably benign 0.00
R0233:Sos2 UTSW 12 69617330 missense probably benign 0.00
R0326:Sos2 UTSW 12 69635685 missense probably damaging 1.00
R1386:Sos2 UTSW 12 69614658 missense probably damaging 1.00
R1472:Sos2 UTSW 12 69585316 unclassified probably null
R1534:Sos2 UTSW 12 69616955 missense probably damaging 1.00
R1861:Sos2 UTSW 12 69617363 missense probably damaging 1.00
R1934:Sos2 UTSW 12 69648541 missense probably damaging 0.99
R1964:Sos2 UTSW 12 69616862 missense possibly damaging 0.51
R2402:Sos2 UTSW 12 69596799 missense possibly damaging 0.95
R2516:Sos2 UTSW 12 69650659 missense probably damaging 0.99
R2571:Sos2 UTSW 12 69635718 missense possibly damaging 0.95
R3423:Sos2 UTSW 12 69603553 missense probably damaging 1.00
R4435:Sos2 UTSW 12 69614699 missense possibly damaging 0.79
R4508:Sos2 UTSW 12 69635661 nonsense probably null
R4595:Sos2 UTSW 12 69616889 missense probably damaging 1.00
R4606:Sos2 UTSW 12 69614606 intron probably benign
R4691:Sos2 UTSW 12 69616328 missense probably damaging 1.00
R4716:Sos2 UTSW 12 69607371 missense probably benign 0.04
R4863:Sos2 UTSW 12 69640154 missense probably benign 0.04
R5179:Sos2 UTSW 12 69650728 nonsense probably null
R5319:Sos2 UTSW 12 69627284 missense probably benign 0.22
R5694:Sos2 UTSW 12 69590915 missense probably damaging 0.96
R5877:Sos2 UTSW 12 69596795 missense probably damaging 1.00
R6363:Sos2 UTSW 12 69632111 missense probably benign 0.00
R6465:Sos2 UTSW 12 69596775 missense probably benign 0.01
R6817:Sos2 UTSW 12 69618161 missense probably benign 0.32
R6822:Sos2 UTSW 12 69650649 missense probably damaging 1.00
R7015:Sos2 UTSW 12 69585235 missense probably benign 0.43
Posted On2015-04-16