Incidental Mutation 'R5877:Sos2'
ID 455616
Institutional Source Beutler Lab
Gene Symbol Sos2
Ensembl Gene ENSMUSG00000034801
Gene Name SOS Ras/Rho guanine nucleotide exchange factor 2
Synonyms
MMRRC Submission 044083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5877 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 69630536-69728626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69643569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 937 (L937P)
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 damaging
Transcript: ENSMUST00000035773
AA Change: L936P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: L936P

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 damaging
Transcript: ENSMUST00000182396
AA Change: L904P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: L904P

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 noncoding transcript
Transcript: ENSMUST00000182838
Predicted Effect probably damaging
Transcript: ENSMUST00000183277
AA Change: L937P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: L937P

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
Meta Mutation Damage Score 0.8801 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 97% (68/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,822 (GRCm39) H213L probably damaging Het
Alk A G 17: 72,274,521 (GRCm39) W597R probably damaging Het
Ark2n G T 18: 77,730,902 (GRCm39) probably null Het
Ash1l G A 3: 88,888,891 (GRCm39) V257I probably benign Het
Atp9b C T 18: 80,796,004 (GRCm39) V957I probably benign Het
Birc2 A C 9: 7,849,347 (GRCm39) C576G probably damaging Het
Brca2 T C 5: 150,466,686 (GRCm39) M2150T possibly damaging Het
C3ar1 T G 6: 122,827,581 (GRCm39) D212A probably benign Het
Cacna1s T C 1: 136,028,405 (GRCm39) F914S probably damaging Het
Camk1d T C 2: 5,570,476 (GRCm39) I62V probably benign Het
Caskin1 T C 17: 24,724,239 (GRCm39) M1009T possibly damaging Het
Casp2 A G 6: 42,253,571 (GRCm39) probably benign Het
Cd2bp2 T A 7: 126,793,971 (GRCm39) Y106F probably damaging Het
Celsr3 G A 9: 108,722,926 (GRCm39) C2763Y probably damaging Het
Cyp2g1 T G 7: 26,516,065 (GRCm39) L310V possibly damaging Het
Dusp22 G A 13: 30,891,944 (GRCm39) V99M probably damaging Het
Elp1 A T 4: 56,787,807 (GRCm39) W375R probably damaging Het
Fam131b G A 6: 42,297,913 (GRCm39) S92L probably benign Het
Fbxw10 A T 11: 62,748,542 (GRCm39) N390Y probably damaging Het
Flg2 A T 3: 93,110,756 (GRCm39) H928L unknown Het
Gapdhs T C 7: 30,431,772 (GRCm39) T280A probably damaging Het
Hdac11 A G 6: 91,134,524 (GRCm39) K50E probably damaging Het
Hif3a G T 7: 16,785,071 (GRCm39) A181E probably damaging Het
Itgb8 A G 12: 119,166,271 (GRCm39) S87P probably benign Het
Klhl12 T A 1: 134,411,558 (GRCm39) Y302* probably null Het
Lhx1 C A 11: 84,413,065 (GRCm39) D30Y probably damaging Het
Mrpl40 A G 16: 18,691,135 (GRCm39) Y148H probably damaging Het
Myh13 A T 11: 67,244,484 (GRCm39) H1007L possibly damaging Het
Nhlrc2 T C 19: 56,559,016 (GRCm39) I167T probably damaging Het
Nxpe3 A T 16: 55,686,564 (GRCm39) I148K probably damaging Het
Odf2l A G 3: 144,834,771 (GRCm39) probably null Het
Otud7b C T 3: 96,059,277 (GRCm39) R347* probably null Het
P3h4 G T 11: 100,304,843 (GRCm39) H181Q probably benign Het
P4htm T A 9: 108,460,932 (GRCm39) Y180F possibly damaging Het
Pcna-ps2 A G 19: 9,261,463 (GRCm39) I241V probably benign Het
Pcnx2 T C 8: 126,480,467 (GRCm39) S1947G probably damaging Het
Piezo2 T C 18: 63,247,005 (GRCm39) I336V probably benign Het
Plcd1 T C 9: 118,905,240 (GRCm39) D157G probably damaging Het
Plekhm2 A C 4: 141,367,004 (GRCm39) I212S probably damaging Het
Pmvk G T 3: 89,371,676 (GRCm39) C57F probably benign Het
Pole T C 5: 110,480,329 (GRCm39) S91P probably benign Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Ppp4r3b A T 11: 29,159,356 (GRCm39) D570V probably damaging Het
Pxdn T A 12: 30,053,045 (GRCm39) I1074N probably damaging Het
Ralgapa2 A T 2: 146,230,489 (GRCm39) D1025E probably damaging Het
Ralgps1 A G 2: 33,133,640 (GRCm39) probably benign Het
Rasal1 C T 5: 120,817,135 (GRCm39) probably benign Het
Rps2 A T 17: 24,939,890 (GRCm39) probably benign Het
Scn7a G C 2: 66,530,217 (GRCm39) Y709* probably null Het
Skint1 T A 4: 111,878,720 (GRCm39) C217* probably null Het
Slc50a1 T C 3: 89,176,460 (GRCm39) Y82C probably damaging Het
Slc9a4 T C 1: 40,651,423 (GRCm39) V567A probably benign Het
Snx27 A T 3: 94,410,270 (GRCm39) W469R probably damaging Het
Ssh1 T C 5: 114,081,181 (GRCm39) T728A probably benign Het
Tnfrsf8 G A 4: 145,019,257 (GRCm39) R193C probably benign Het
Tut4 T C 4: 108,370,120 (GRCm39) V673A probably damaging Het
Usp33 T A 3: 152,085,113 (GRCm39) M583K possibly damaging Het
Usp33 G A 3: 152,085,233 (GRCm39) C623Y probably damaging Het
Wdfy3 T C 5: 102,017,855 (GRCm39) I2562V probably damaging Het
Wnk2 T C 13: 49,220,782 (GRCm39) D1175G probably damaging Het
Zfp341 G A 2: 154,474,209 (GRCm39) E338K probably damaging Het
Zfp398 A G 6: 47,817,638 (GRCm39) probably benign Het
Zp2 T A 7: 119,732,562 (GRCm39) K661N probably null 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
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
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'- CACTGTGACACTCTTTAGCAAC -3'
(R):5'- TGTCTTCACCTTTCAGGAGTTAG -3'

Sequencing Primer
(F):5'- GTGACACTCTTTAGCAACTCCATTGG -3'
(R):5'- CACCTTTCAGGAGTTAGAACGCTG -3'
Posted On 2017-02-10