Incidental Mutation 'R4716:Sos2'
ID 354063
Institutional Source Beutler Lab
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene Name SOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
MMRRC Submission 041983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4716 (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 69654145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 703 (I703V)
Ref Sequence ENSEMBL: ENSMUSP00000138589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]
AlphaFold Q02384
Predicted Effect probably benign
Transcript: ENSMUST00000035773
AA Change: I735V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: I735V

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: I703V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: I703V

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: I736V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: I736V

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Adam8 T A 7: 139,563,851 (GRCm39) D717V probably benign Het
Aknad1 T C 3: 108,682,417 (GRCm39) probably null Het
Alk A T 17: 72,512,937 (GRCm39) W341R probably damaging Het
Ankdd1b G A 13: 96,591,091 (GRCm39) Q101* probably null Het
Anpep A C 7: 79,476,380 (GRCm39) S829A probably benign Het
Armh3 A G 19: 45,948,781 (GRCm39) S233P probably damaging Het
Ate1 A T 7: 130,115,511 (GRCm39) C72S probably damaging Het
Atp6v0a4 G A 6: 38,037,999 (GRCm39) L533F probably damaging Het
Bach1 T C 16: 87,512,267 (GRCm39) probably benign Het
Baz2b T C 2: 59,799,599 (GRCm39) D240G probably benign Het
Cdc14b C T 13: 64,357,014 (GRCm39) S21N probably damaging Het
Cdh3 A G 8: 107,270,520 (GRCm39) I466V probably benign Het
Cog1 A G 11: 113,547,923 (GRCm39) E137G probably damaging Het
Col4a2 A G 8: 11,452,224 (GRCm39) D180G probably damaging Het
Cyp2c40 A T 19: 39,791,105 (GRCm39) probably null Het
Dclk2 C T 3: 86,827,188 (GRCm39) R97H probably damaging Het
Ddx52 T C 11: 83,846,031 (GRCm39) probably null Het
Dhx58 C T 11: 100,587,797 (GRCm39) probably null Het
Dmp1 T A 5: 104,360,427 (GRCm39) S368T probably damaging Het
Dnah17 C A 11: 117,964,474 (GRCm39) V2435L probably benign Het
Dnajc7 A G 11: 100,510,402 (GRCm39) V10A probably benign Het
Dscam G T 16: 96,420,771 (GRCm39) T1705K possibly damaging Het
Dscaml1 G A 9: 45,361,890 (GRCm39) V217M probably damaging Het
Dync2h1 A G 9: 7,142,648 (GRCm39) probably null Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Fam174a C T 1: 95,241,770 (GRCm39) P77S probably benign Het
Fars2 G A 13: 36,389,051 (GRCm39) R180H probably damaging Het
Fnbp1 T C 2: 30,945,532 (GRCm39) T154A probably benign Het
Fsip2 T A 2: 82,805,203 (GRCm39) N507K probably damaging Het
Glg1 G T 8: 111,887,407 (GRCm39) Y449* probably null Het
Gm15130 A T 2: 110,964,560 (GRCm39) Y187* probably null Het
Gm973 A T 1: 59,591,713 (GRCm39) K366* probably null Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hao1 A G 2: 134,347,540 (GRCm39) I255T probably damaging Het
Herc6 T A 6: 57,575,423 (GRCm39) V148E probably damaging Het
Insm2 T A 12: 55,647,677 (GRCm39) C474S possibly damaging Het
Itch T C 2: 155,052,502 (GRCm39) probably null Het
Itga2 A G 13: 114,993,909 (GRCm39) V748A probably damaging Het
Itga9 T A 9: 118,510,826 (GRCm39) S452T probably damaging Het
Kdm4b C A 17: 56,693,178 (GRCm39) D338E probably benign Het
Krt40 G A 11: 99,431,045 (GRCm39) R155C probably damaging Het
Krtap16-1 A G 11: 99,876,000 (GRCm39) V468A probably damaging Het
Lactb2 G A 1: 13,708,619 (GRCm39) P143L probably damaging Het
Lrba C A 3: 86,550,021 (GRCm39) T2330K probably damaging Het
Lrp2bp A T 8: 46,466,208 (GRCm39) I106F probably benign Het
Luzp2 A G 7: 54,485,710 (GRCm39) K2E probably damaging Het
Lypd6 T C 2: 50,078,855 (GRCm39) probably null Het
Maml1 A T 11: 50,148,694 (GRCm39) D1015E probably benign Het
Mdfi T G 17: 48,131,906 (GRCm39) D106A possibly damaging Het
Olfm3 T C 3: 114,874,755 (GRCm39) M17T probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2o1 A G 11: 49,051,717 (GRCm39) Y292C probably damaging Het
Or8c16 T A 9: 38,130,714 (GRCm39) N198K probably damaging Het
Or8g30 A G 9: 39,230,725 (GRCm39) F62L probably benign Het
Otud7b T G 3: 96,058,227 (GRCm39) L261V probably damaging Het
P2ry1 A G 3: 60,910,893 (GRCm39) N11D probably damaging Het
Pate2 T C 9: 35,596,978 (GRCm39) probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Per1 A G 11: 68,992,057 (GRCm39) E137G probably damaging Het
Phf11d T C 14: 59,590,791 (GRCm39) T189A probably benign Het
Pik3r5 C A 11: 68,386,030 (GRCm39) S738R possibly damaging Het
Pikfyve A G 1: 65,285,635 (GRCm39) Y913C possibly damaging Het
Pkd1 T G 17: 24,795,107 (GRCm39) S2265A probably damaging Het
Pkhd1l1 C A 15: 44,419,428 (GRCm39) N2964K probably damaging Het
Plch1 T G 3: 63,688,967 (GRCm39) D79A probably damaging Het
Pnliprp1 A C 19: 58,728,901 (GRCm39) T363P possibly damaging Het
Ppp1r10 T A 17: 36,240,352 (GRCm39) D547E probably benign Het
Prkdc T A 16: 15,628,701 (GRCm39) I3482K probably benign Het
Ptpn4 A G 1: 119,649,598 (GRCm39) Y333H probably damaging Het
Ptpru T A 4: 131,548,279 (GRCm39) M73L probably benign Het
Rrp12 A G 19: 41,865,867 (GRCm39) Y698H probably damaging Het
Scaf8 T C 17: 3,227,398 (GRCm39) F338L unknown Het
Slc17a1 G T 13: 24,064,576 (GRCm39) V347L probably benign Het
Slc1a2 T A 2: 102,578,883 (GRCm39) V263E probably damaging Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Slc6a3 A C 13: 73,705,195 (GRCm39) I229L probably benign Het
Srpk1 T C 17: 28,840,982 (GRCm39) T15A probably benign Het
St6gal2 A T 17: 55,817,367 (GRCm39) Q510L probably benign Het
Stk24 T C 14: 121,532,130 (GRCm39) D289G possibly damaging Het
Taf2 T G 15: 54,929,364 (GRCm39) K64T probably benign Het
Tbx3 A G 5: 119,813,735 (GRCm39) E257G possibly damaging Het
Tmem102 A T 11: 69,695,022 (GRCm39) F317I probably damaging Het
Trav10 A G 14: 53,743,497 (GRCm39) S33G possibly damaging Het
Ttn T A 2: 76,745,408 (GRCm39) I5214F probably damaging Het
Ube2f T A 1: 91,182,002 (GRCm39) L2Q probably damaging Het
Ube4b A G 4: 149,429,069 (GRCm39) F857L probably damaging Het
Vmn2r18 T A 5: 151,485,602 (GRCm39) I631F possibly damaging Het
Zfp280d T A 9: 72,219,947 (GRCm39) S241T possibly damaging Het
Zfp638 T A 6: 83,956,544 (GRCm39) L1717* probably null Het
Zfp719 A G 7: 43,240,535 (GRCm39) N708D possibly damaging 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
R4435:Sos2 UTSW 12 69,661,473 (GRCm39) missense possibly damaging 0.79
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
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'- TTCCAAAAGTGTTAGCTGCCG -3'
(R):5'- TCAAATACTAGCAAAGCATGTGAAG -3'

Sequencing Primer
(F):5'- CCGTGCGATCTCTATTGGATGAAG -3'
(R):5'- GGTGACTCATGTCTGTAATACCAGC -3'
Posted On 2015-10-21