Incidental Mutation 'R7975:Sos2'
| ID |
650862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
046018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69639814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 990
(F990L)
|
| 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: F989L
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: F989L
| 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: F957L
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: F957L
| 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: F990L
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: F990L
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
C |
10: 88,952,847 (GRCm39) |
I60V |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,286 (GRCm39) |
M381K |
probably null |
Het |
| Aox1 |
T |
A |
1: 58,348,187 (GRCm39) |
I635K |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,156,884 (GRCm39) |
C2436Y |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,620 (GRCm39) |
R2565G |
possibly damaging |
Het |
| Brd2 |
A |
T |
17: 34,334,424 (GRCm39) |
I245N |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,325,515 (GRCm39) |
V258M |
probably damaging |
Het |
| Ccar2 |
C |
G |
14: 70,380,918 (GRCm39) |
C324S |
possibly damaging |
Het |
| Cd209b |
A |
T |
8: 3,975,948 (GRCm39) |
I71N |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,111,928 (GRCm39) |
I729F |
unknown |
Het |
| Celf1 |
T |
G |
2: 90,831,423 (GRCm39) |
V84G |
probably damaging |
Het |
| Cgn |
G |
T |
3: 94,671,836 (GRCm39) |
A965E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,632,604 (GRCm39) |
E249G |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,841 (GRCm39) |
H629R |
|
Het |
| Cyp2j8 |
T |
C |
4: 96,358,776 (GRCm39) |
N381S |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,179,169 (GRCm39) |
D343G |
probably damaging |
Het |
| Fhl5 |
T |
A |
4: 25,214,730 (GRCm39) |
I16F |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,989,781 (GRCm39) |
F143S |
probably damaging |
Het |
| Gbp10 |
C |
T |
5: 105,368,967 (GRCm39) |
G291R |
probably benign |
Het |
| Gm28168 |
T |
C |
1: 117,875,820 (GRCm39) |
Y150H |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,122 (GRCm39) |
M121V |
probably benign |
Het |
| Gramd2b |
A |
G |
18: 56,618,451 (GRCm39) |
T220A |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,777,863 (GRCm39) |
L316P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,282,532 (GRCm39) |
G3424D |
probably benign |
Het |
| Ifi209 |
C |
T |
1: 173,468,722 (GRCm39) |
S184F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,286,948 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
G |
A |
3: 105,366,310 (GRCm39) |
R60H |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,098,911 (GRCm39) |
C1400R |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,670,796 (GRCm39) |
P794L |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,346 (GRCm39) |
I214V |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,490,028 (GRCm39) |
L158Q |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,066,453 (GRCm39) |
Y58H |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,994,990 (GRCm39) |
S479P |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,127,920 (GRCm39) |
D132V |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,666 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,050,678 (GRCm39) |
H6660L |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,966 (GRCm39) |
V263E |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 121,009,890 (GRCm39) |
V322M |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,019 (GRCm39) |
Y203* |
probably null |
Het |
| Or2m13 |
T |
A |
16: 19,226,301 (GRCm39) |
D155V |
probably damaging |
Het |
| Or4a15 |
C |
T |
2: 89,193,413 (GRCm39) |
R120H |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,212,705 (GRCm39) |
D1121V |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,465 (GRCm39) |
S352P |
probably damaging |
Het |
| Piezo1 |
C |
A |
8: 123,222,504 (GRCm39) |
R915L |
|
Het |
| R3hcc1 |
T |
C |
14: 69,944,593 (GRCm39) |
D7G |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,458,589 (GRCm39) |
K429E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,286 (GRCm39) |
F166S |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,314,597 (GRCm39) |
N1707T |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,364,201 (GRCm39) |
F493S |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,077,982 (GRCm39) |
I257F |
possibly damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,652,150 (GRCm39) |
D637E |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,823 (GRCm39) |
A4396T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,981,786 (GRCm39) |
T844A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,306,678 (GRCm39) |
R145C |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,946,076 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,272 (GRCm39) |
I810V |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,199 (GRCm39) |
D467G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,049,352 (GRCm39) |
N417K |
possibly damaging |
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 |
|
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 |
|
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'- ACAAGACAGCTATTGGTGATACAAC -3'
(R):5'- TCCTAATAAACTATGAGGCTAGGATGC -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTATGGGCCACC -3'
(R):5'- TGCTGTCCTAGTCACAAATAGAGAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation