Incidental Mutation 'R7562:Sos2'
| ID |
585209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
045627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69682412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 269
(T269A)
|
| 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: T269A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: T269A
| 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 |
possibly damaging
Transcript: ENSMUST00000182396
AA Change: T269A
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: T269A
| 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: T269A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: T269A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,563 (GRCm39) |
T544M |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
| Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
| Arid2 |
T |
G |
15: 96,299,849 (GRCm39) |
H1787Q |
probably damaging |
Het |
| Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
| Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
| Ccdc80 |
C |
T |
16: 44,943,266 (GRCm39) |
A792V |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
| Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,298,081 (GRCm39) |
W103R |
possibly damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
| Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
| Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
| Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
| Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
| Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
| Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,031,306 (GRCm39) |
A415S |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
| Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
| Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
| Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
| Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
| Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
| Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
| Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
| Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
| Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
| Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
| Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
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 |
|
|
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 |
|
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'- TGCTAAAGCTACAGGCAGC -3'
(R):5'- CTAAGCTGTCTGACTAACGCC -3'
Sequencing Primer
(F):5'- GCTAAAGCTACAGGCAGCATAACTG -3'
(R):5'- CAGGTCGTCTTCTGCAGTAAACAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation