Incidental Mutation 'R4435:Sos2'
ID 329495
Institutional Source Beutler Lab
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene Name SOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
MMRRC Submission 041149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4435 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 69630536-69728626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69661473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 666 (E666G)
Ref Sequence ENSEMBL: ENSMUSP00000138793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]
AlphaFold Q02384
PDB Structure ORIENTATION OF PEPTIDE FRAGMENTS FROM SOS PROTEINS BOUND TO THE N-TERMINAL SH3 DOMAIN OF GRB2 DETERMINED BY NMR SPECTROSCOPY [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000035773
AA Change: E665G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: E665G

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 possibly damaging
Transcript: ENSMUST00000182396
AA Change: E633G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: E633G

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 possibly damaging
Transcript: ENSMUST00000183277
AA Change: E666G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: E666G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Arap1 C A 7: 101,039,461 (GRCm39) R574S possibly damaging Het
Arhgap25 T C 6: 87,439,920 (GRCm39) I576V possibly damaging Het
Ascc3 T A 10: 50,597,981 (GRCm39) V1283D probably benign Het
Asnsd1 A T 1: 53,387,232 (GRCm39) probably null Het
Asrgl1 C T 19: 9,096,563 (GRCm39) V125I probably damaging Het
Bccip A G 7: 133,320,942 (GRCm39) R239G probably benign Het
Cdyl T C 13: 36,042,233 (GRCm39) probably null Het
Cyfip1 T C 7: 55,549,789 (GRCm39) I650T probably damaging Het
Dennd4c C A 4: 86,716,312 (GRCm39) Q506K probably benign Het
Fam135b T C 15: 71,320,588 (GRCm39) D1313G probably damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Gm5134 T G 10: 75,831,658 (GRCm39) S366A probably damaging Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hk1 A G 10: 62,111,623 (GRCm39) Y713H probably damaging Het
Ifih1 A G 2: 62,476,234 (GRCm39) L14P probably damaging Het
Kmt2c A T 5: 25,519,875 (GRCm39) N2078K possibly damaging Het
Maf T A 8: 116,433,592 (GRCm39) E4V unknown Het
Mbtd1 T A 11: 93,823,048 (GRCm39) D489E probably benign Het
Myrip C T 9: 120,164,680 (GRCm39) probably benign Het
Nedd4l A G 18: 65,345,896 (GRCm39) D816G possibly damaging Het
Nwd1 T C 8: 73,414,764 (GRCm39) V934A possibly damaging Het
Or2a12 T A 6: 42,905,023 (GRCm39) I286N probably damaging Het
Or5ae1 A G 7: 84,565,229 (GRCm39) M81V probably benign Het
Psd A T 19: 46,302,933 (GRCm39) I158N probably damaging Het
Ptprq A G 10: 107,520,916 (GRCm39) V752A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Senp2 T A 16: 21,832,991 (GRCm39) V93E possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Slc38a4 T C 15: 96,906,899 (GRCm39) S280G probably benign Het
Strip2 T C 6: 29,925,049 (GRCm39) V129A probably benign Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Ttn T C 2: 76,747,219 (GRCm39) E4610G probably benign Het
Uimc1 T C 13: 55,223,636 (GRCm39) E212G probably damaging Het
Zc3h18 T C 8: 123,140,691 (GRCm39) probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Sos2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Sos2 APN 12 69,663,623 (GRCm39) splice site probably benign
IGL01348:Sos2 APN 12 69,664,866 (GRCm39) missense probably damaging 0.99
IGL01360:Sos2 APN 12 69,637,574 (GRCm39) missense probably benign 0.00
IGL01586:Sos2 APN 12 69,654,172 (GRCm39) missense probably damaging 1.00
IGL01721:Sos2 APN 12 69,650,641 (GRCm39) missense probably damaging 0.99
IGL02024:Sos2 APN 12 69,664,822 (GRCm39) splice site probably benign
IGL02347:Sos2 APN 12 69,643,520 (GRCm39) missense probably benign
IGL02419:Sos2 APN 12 69,663,764 (GRCm39) missense probably benign
IGL02684:Sos2 APN 12 69,643,440 (GRCm39) missense probably damaging 1.00
IGL02719:Sos2 APN 12 69,663,958 (GRCm39) missense probably benign 0.00
IGL03099:Sos2 APN 12 69,663,133 (GRCm39) missense probably damaging 1.00
Bechamel UTSW 12 69,650,327 (GRCm39) missense probably damaging 1.00
sauce UTSW 12 69,643,569 (GRCm39) missense probably damaging 1.00
G1citation:Sos2 UTSW 12 69,697,423 (GRCm39) missense probably damaging 1.00
PIT4131001:Sos2 UTSW 12 69,664,851 (GRCm39) missense probably benign
R0038:Sos2 UTSW 12 69,643,467 (GRCm39) missense probably damaging 1.00
R0233:Sos2 UTSW 12 69,664,104 (GRCm39) missense probably benign 0.00
R0233:Sos2 UTSW 12 69,664,104 (GRCm39) missense probably benign 0.00
R0326:Sos2 UTSW 12 69,682,459 (GRCm39) missense probably damaging 1.00
R1386:Sos2 UTSW 12 69,661,432 (GRCm39) missense probably damaging 1.00
R1472:Sos2 UTSW 12 69,632,090 (GRCm39) splice site probably null
R1534:Sos2 UTSW 12 69,663,729 (GRCm39) missense probably damaging 1.00
R1861:Sos2 UTSW 12 69,664,137 (GRCm39) missense probably damaging 1.00
R1934:Sos2 UTSW 12 69,695,315 (GRCm39) missense probably damaging 0.99
R1964:Sos2 UTSW 12 69,663,636 (GRCm39) missense possibly damaging 0.51
R2402:Sos2 UTSW 12 69,643,573 (GRCm39) missense possibly damaging 0.95
R2516:Sos2 UTSW 12 69,697,433 (GRCm39) missense probably damaging 0.99
R2571:Sos2 UTSW 12 69,682,492 (GRCm39) missense possibly damaging 0.95
R3423:Sos2 UTSW 12 69,650,327 (GRCm39) missense probably damaging 1.00
R4508:Sos2 UTSW 12 69,682,435 (GRCm39) nonsense probably null
R4595:Sos2 UTSW 12 69,663,663 (GRCm39) missense probably damaging 1.00
R4606:Sos2 UTSW 12 69,661,380 (GRCm39) intron probably benign
R4691:Sos2 UTSW 12 69,663,102 (GRCm39) missense probably damaging 1.00
R4716:Sos2 UTSW 12 69,654,145 (GRCm39) missense probably benign 0.04
R4863:Sos2 UTSW 12 69,686,928 (GRCm39) missense probably benign 0.04
R5179:Sos2 UTSW 12 69,697,502 (GRCm39) nonsense probably null
R5319:Sos2 UTSW 12 69,674,058 (GRCm39) missense probably benign 0.22
R5694:Sos2 UTSW 12 69,637,689 (GRCm39) missense probably damaging 0.96
R5877:Sos2 UTSW 12 69,643,569 (GRCm39) missense probably damaging 1.00
R6363:Sos2 UTSW 12 69,678,885 (GRCm39) missense probably benign 0.00
R6465:Sos2 UTSW 12 69,643,549 (GRCm39) missense probably benign 0.01
R6817:Sos2 UTSW 12 69,664,935 (GRCm39) missense probably benign 0.32
R6822:Sos2 UTSW 12 69,697,423 (GRCm39) missense probably damaging 1.00
R7015:Sos2 UTSW 12 69,632,009 (GRCm39) missense probably benign 0.43
R7562:Sos2 UTSW 12 69,682,412 (GRCm39) missense probably benign 0.12
R7570:Sos2 UTSW 12 69,637,654 (GRCm39) missense probably damaging 1.00
R7757:Sos2 UTSW 12 69,695,359 (GRCm39) missense probably damaging 0.99
R7975:Sos2 UTSW 12 69,639,814 (GRCm39) missense probably benign 0.20
R8079:Sos2 UTSW 12 69,653,989 (GRCm39) missense probably damaging 1.00
R8194:Sos2 UTSW 12 69,645,598 (GRCm39) missense probably damaging 1.00
R8756:Sos2 UTSW 12 69,695,310 (GRCm39) missense probably damaging 1.00
R8775:Sos2 UTSW 12 69,664,006 (GRCm39) missense probably benign 0.02
R8775-TAIL:Sos2 UTSW 12 69,664,006 (GRCm39) missense probably benign 0.02
R9136:Sos2 UTSW 12 69,633,446 (GRCm39) missense possibly damaging 0.95
R9245:Sos2 UTSW 12 69,695,239 (GRCm39) missense probably damaging 1.00
Z1177:Sos2 UTSW 12 69,632,366 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGATAATCTACCATGTGACACAC -3'
(R):5'- AGTCAAAGGCTGTTTGCTTCTG -3'

Sequencing Primer
(F):5'- ACACAGATGATACAAATAACACGG -3'
(R):5'- GGATAAACAGTACTTGTGTTTTCTGC -3'
Posted On 2015-07-21