Incidental Mutation 'R5319:Sos2'
| ID |
406006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
042902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69674058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 335
(R335L)
|
| 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: R335L
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: R335L
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
| Domain | Start | End | E-Value | Type |
|---|
|
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: R335L
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: R335L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.6184 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (69/73) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,441,506 (GRCm39) |
S218P |
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,596,615 (GRCm39) |
S121A |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,491,479 (GRCm39) |
R174H |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,435,010 (GRCm39) |
|
probably null |
Het |
| Becn1 |
A |
G |
11: 101,179,629 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,561,549 (GRCm39) |
Y984C |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,324,213 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
G |
16: 34,543,542 (GRCm39) |
N633K |
probably damaging |
Het |
| Cdk5rap1 |
T |
A |
2: 154,177,489 (GRCm39) |
T577S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,630,940 (GRCm39) |
R307G |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,360,620 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,718,762 (GRCm39) |
D177E |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,256 (GRCm39) |
Y127H |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,983 (GRCm39) |
T98A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,265,058 (GRCm39) |
S4757P |
possibly damaging |
Het |
| Dvl2 |
C |
T |
11: 69,898,957 (GRCm39) |
T448I |
possibly damaging |
Het |
| E230016K23Rik |
T |
G |
11: 83,512,496 (GRCm39) |
|
noncoding transcript |
Het |
| Efl1 |
G |
T |
7: 82,323,714 (GRCm39) |
D219Y |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,807,793 (GRCm39) |
|
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,213,015 (GRCm39) |
T311S |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,224 (GRCm39) |
I27F |
probably damaging |
Het |
| Gm8521 |
A |
T |
Y: 3,859,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,771,860 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
C |
1: 36,143,259 (GRCm39) |
V398A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,321,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,148,370 (GRCm39) |
N621K |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,822,911 (GRCm39) |
F2785S |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,574,791 (GRCm39) |
G1182D |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,108 (GRCm39) |
I281T |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,229 (GRCm39) |
A2511T |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,170,886 (GRCm39) |
D328G |
possibly damaging |
Het |
| Myo1c |
G |
A |
11: 75,552,852 (GRCm39) |
E434K |
possibly damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,205 (GRCm39) |
S387P |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,215,197 (GRCm38) |
S272P |
probably benign |
Het |
| Nsrp1 |
T |
C |
11: 76,940,293 (GRCm39) |
H104R |
probably damaging |
Het |
| Odf1 |
T |
A |
15: 38,219,863 (GRCm39) |
S64T |
probably benign |
Het |
| Or2aa1 |
A |
T |
11: 59,480,477 (GRCm39) |
V146E |
probably damaging |
Het |
| Or4c106 |
T |
A |
2: 88,683,122 (GRCm39) |
I276K |
probably damaging |
Het |
| Or7g25 |
C |
T |
9: 19,160,329 (GRCm39) |
R122H |
possibly damaging |
Het |
| Pde4b |
C |
A |
4: 102,278,985 (GRCm39) |
|
probably benign |
Het |
| Phox2a |
C |
T |
7: 101,470,057 (GRCm39) |
T96M |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,622,114 (GRCm39) |
E478G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,486,983 (GRCm39) |
T517S |
probably benign |
Het |
| Ptk7 |
C |
T |
17: 46,883,603 (GRCm39) |
V821M |
probably damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,709,913 (GRCm39) |
V2M |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,152,529 (GRCm39) |
V380A |
probably benign |
Het |
| Rpl13a-ps1 |
A |
G |
19: 50,018,591 (GRCm39) |
V195A |
possibly damaging |
Het |
| Rsph1 |
C |
A |
17: 31,492,351 (GRCm39) |
V72F |
probably benign |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,072 (GRCm39) |
V640A |
probably benign |
Het |
| Simc1 |
T |
A |
13: 54,672,795 (GRCm39) |
V381E |
probably benign |
Het |
| Slc15a3 |
A |
T |
19: 10,833,296 (GRCm39) |
T438S |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,898,233 (GRCm39) |
V494M |
probably benign |
Het |
| Trp53i13 |
A |
T |
11: 77,399,566 (GRCm39) |
N254K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,922 (GRCm39) |
Y130C |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,130,415 (GRCm39) |
I174V |
probably damaging |
Het |
| Tsnax |
T |
A |
8: 125,742,458 (GRCm39) |
D62E |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,806,193 (GRCm39) |
E739D |
probably benign |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,209 (GRCm39) |
I184F |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,005,175 (GRCm39) |
V385A |
probably benign |
Het |
|
| Other mutations in Sos2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- GCTATAGGCAGGCTTCTCAG -3'
(R):5'- ATGCAGAAGTGTGTCTGTTTATCAG -3'
Sequencing Primer
(F):5'- CTAGCCCTAGGACACTGTATTTTATG -3'
(R):5'- CGGGAGGGGACGATTTCTAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation