Incidental Mutation 'R6363:Sos2'
| ID |
512599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
044513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6363 (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 69678885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 307
(N307K)
|
| 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: N307K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: N307K
| 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
AA Change: N307K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: N307K
| 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: N307K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: N307K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
A |
G |
4: 111,423,982 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,791,244 (GRCm39) |
C379F |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,651,971 (GRCm39) |
C256R |
probably damaging |
Het |
| Ccdc33 |
T |
C |
9: 58,021,618 (GRCm39) |
E254G |
probably benign |
Het |
| Ccndbp1 |
C |
T |
2: 120,843,454 (GRCm39) |
P282L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,818,207 (GRCm39) |
T144I |
unknown |
Het |
| Csmd2 |
A |
T |
4: 128,294,172 (GRCm39) |
H1167L |
probably benign |
Het |
| Ctsk |
A |
T |
3: 95,408,862 (GRCm39) |
T82S |
probably damaging |
Het |
| Cyp3a41b |
A |
T |
5: 145,507,197 (GRCm39) |
F248I |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,407,679 (GRCm39) |
I2051T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,331 (GRCm39) |
F871L |
probably benign |
Het |
| Eif2b4 |
A |
G |
5: 31,348,583 (GRCm39) |
V210A |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,965,143 (GRCm39) |
I385T |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,320,404 (GRCm39) |
L330P |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,417 (GRCm39) |
V24A |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,475 (GRCm39) |
I156F |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,765,565 (GRCm39) |
Y1465C |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,625 (GRCm39) |
L146P |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,313 (GRCm39) |
I154T |
possibly damaging |
Het |
| Hid1 |
T |
A |
11: 115,243,422 (GRCm39) |
Y542F |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,361 (GRCm39) |
V219A |
probably damaging |
Het |
| Klhl24 |
C |
T |
16: 19,938,933 (GRCm39) |
T496I |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,413 (GRCm39) |
S64P |
probably damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,032 (GRCm39) |
D1066Y |
probably damaging |
Het |
| Naaladl2 |
C |
T |
3: 24,389,481 (GRCm39) |
G323R |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,532,577 (GRCm39) |
T1762A |
probably benign |
Het |
| Nr4a1 |
C |
T |
15: 101,171,996 (GRCm39) |
R557C |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,194 (GRCm39) |
H344L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,995 (GRCm39) |
F265Y |
possibly damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,530 (GRCm39) |
H182L |
possibly damaging |
Het |
| Or5p55 |
A |
G |
7: 107,566,957 (GRCm39) |
M118V |
possibly damaging |
Het |
| Or9k7 |
A |
C |
10: 130,046,906 (GRCm39) |
V31G |
possibly damaging |
Het |
| Orm2 |
G |
A |
4: 63,280,841 (GRCm39) |
|
probably null |
Het |
| Patj |
T |
A |
4: 98,320,097 (GRCm39) |
S455T |
probably benign |
Het |
| Pdgfra |
G |
T |
5: 75,331,497 (GRCm39) |
V336L |
possibly damaging |
Het |
| Prkaa1 |
T |
C |
15: 5,206,437 (GRCm39) |
L431S |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,952,894 (GRCm39) |
V780A |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,525,081 (GRCm39) |
V184E |
probably benign |
Het |
| Rev1 |
T |
A |
1: 38,110,570 (GRCm39) |
H560L |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,928,504 (GRCm39) |
R375* |
probably null |
Het |
| Slc8a2 |
C |
A |
7: 15,867,970 (GRCm39) |
D67E |
probably benign |
Het |
| Srgap2 |
G |
A |
1: 131,226,206 (GRCm39) |
R36W |
probably damaging |
Het |
| Tas2r119 |
G |
T |
15: 32,178,034 (GRCm39) |
W200L |
possibly damaging |
Het |
| Tep1 |
T |
G |
14: 51,062,005 (GRCm39) |
K2575T |
probably benign |
Het |
| Ttc36 |
T |
A |
9: 44,710,936 (GRCm39) |
R131S |
probably damaging |
Het |
| Ttyh3 |
A |
T |
5: 140,620,979 (GRCm39) |
L195Q |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,857,382 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
C |
10: 88,592,942 (GRCm39) |
V2249G |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,340,197 (GRCm39) |
|
probably null |
Het |
| Zdhhc21 |
A |
T |
4: 82,765,911 (GRCm39) |
V8D |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,239,290 (GRCm39) |
T293A |
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 |
|
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'- ATGGTGCACATTAAGAACTAACTGG -3'
(R):5'- GCCATAACTGTTGTTTTCCCTGAG -3'
Sequencing Primer
(F):5'- ACAGTGGCCTATGCTTACAG -3'
(R):5'- GTTGTTTTCCCTGAGTAGAGAAAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation