Incidental Mutation 'R2516:Sos2'
| ID |
253833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
040420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69697433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 96
(K96E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035773]
[ENSMUST00000182396]
[ENSMUST00000183277]
|
| AlphaFold |
Q02384 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035773
AA Change: K96E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: K96E
| 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 damaging
Transcript: ENSMUST00000182396
AA Change: K96E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: K96E
| 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 |
possibly damaging
Transcript: ENSMUST00000183277
AA Change: K96E
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: K96E
| 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 |
0.1378 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,159,673 (GRCm39) |
I6N |
possibly damaging |
Het |
| Aen |
T |
C |
7: 78,555,616 (GRCm39) |
V188A |
probably damaging |
Het |
| Afg3l1 |
A |
G |
8: 124,228,693 (GRCm39) |
E753G |
probably damaging |
Het |
| Alas1 |
G |
A |
9: 106,115,859 (GRCm39) |
T385I |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankrd65 |
A |
G |
4: 155,875,868 (GRCm39) |
T30A |
possibly damaging |
Het |
| App |
T |
C |
16: 84,775,117 (GRCm39) |
S582G |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,223,879 (GRCm39) |
V1473E |
possibly damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,859,809 (GRCm39) |
P1196S |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,039,776 (GRCm39) |
T238A |
probably benign |
Het |
| Atf7 |
T |
C |
15: 102,437,439 (GRCm39) |
|
probably benign |
Het |
| Best1 |
G |
T |
19: 9,970,675 (GRCm39) |
S55* |
probably null |
Het |
| Capn11 |
A |
G |
17: 45,944,725 (GRCm39) |
V514A |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,073,603 (GRCm39) |
M52K |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,443,619 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
T |
C |
5: 145,939,837 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
G |
A |
9: 54,307,378 (GRCm39) |
P2197S |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,859,551 (GRCm39) |
|
probably null |
Het |
| Exosc9 |
A |
G |
3: 36,617,311 (GRCm39) |
K355R |
probably benign |
Het |
| Fut1 |
A |
C |
7: 45,268,622 (GRCm39) |
H192P |
probably benign |
Het |
| Gm572 |
T |
A |
4: 148,748,841 (GRCm39) |
V166D |
possibly damaging |
Het |
| Gm9966 |
C |
T |
7: 95,607,735 (GRCm39) |
P19S |
unknown |
Het |
| Gmds |
C |
T |
13: 32,284,456 (GRCm39) |
V219I |
probably damaging |
Het |
| Gsn |
G |
A |
2: 35,173,965 (GRCm39) |
E25K |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,489,315 (GRCm39) |
F368S |
probably damaging |
Het |
| Irak1bp1 |
T |
C |
9: 82,712,373 (GRCm39) |
L98P |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,896,544 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,501,738 (GRCm39) |
I925T |
probably damaging |
Het |
| Laptm4a |
T |
C |
12: 8,988,151 (GRCm39) |
I296T |
probably benign |
Het |
| Lpl |
A |
T |
8: 69,340,170 (GRCm39) |
H55L |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,130 (GRCm39) |
N1558K |
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,844,280 (GRCm39) |
L289P |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,120,759 (GRCm39) |
M543K |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,228,550 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
T |
3: 88,819,200 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
A |
G |
8: 41,535,776 (GRCm39) |
Y647H |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,638,087 (GRCm39) |
V289E |
probably damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,167 (GRCm39) |
K322N |
probably damaging |
Het |
| Oit3 |
G |
A |
10: 59,277,507 (GRCm39) |
|
probably benign |
Het |
| Or4k1 |
T |
C |
14: 50,377,440 (GRCm39) |
I219V |
probably benign |
Het |
| Or5b113 |
T |
A |
19: 13,342,557 (GRCm39) |
C188* |
probably null |
Het |
| Or5m12 |
A |
G |
2: 85,734,900 (GRCm39) |
I166T |
probably benign |
Het |
| Or6c211 |
G |
A |
10: 129,506,155 (GRCm39) |
R78W |
probably damaging |
Het |
| Pecr |
A |
T |
1: 72,316,469 (GRCm39) |
C79S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,307,116 (GRCm39) |
D478G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,658,616 (GRCm39) |
M264K |
probably benign |
Het |
| Ptprj |
C |
A |
2: 90,305,340 (GRCm39) |
|
probably benign |
Het |
| Pygm |
A |
G |
19: 6,447,631 (GRCm39) |
D646G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,867,043 (GRCm39) |
V283A |
probably benign |
Het |
| Shisa5 |
T |
C |
9: 108,885,575 (GRCm39) |
|
probably null |
Het |
| Slc10a4 |
A |
G |
5: 73,165,848 (GRCm39) |
I246V |
possibly damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,870,312 (GRCm39) |
I104F |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,559 (GRCm39) |
Y511C |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,606,210 (GRCm39) |
N706S |
probably benign |
Het |
| Stom |
G |
A |
2: 35,205,977 (GRCm39) |
R251* |
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,752,382 (GRCm39) |
E800G |
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,503,657 (GRCm39) |
V945I |
probably damaging |
Het |
| Trpm5 |
G |
T |
7: 142,628,254 (GRCm39) |
P1007Q |
probably damaging |
Het |
| Uchl1 |
T |
G |
5: 66,839,956 (GRCm39) |
I139S |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,288 (GRCm39) |
I104T |
possibly damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,167,814 (GRCm39) |
M689I |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 123,129,904 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp456 |
T |
C |
13: 67,510,491 (GRCm39) |
K99R |
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 |
|
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 |
|
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'- CAGGGTATCACTCATGCAAAGC -3'
(R):5'- CCTGGGATCAGAATTTATTGTATCCC -3'
Sequencing Primer
(F):5'- TGCAAAGCATATCACTGACACAC -3'
(R):5'- CCCCATGACTTTCTTGTATTAAAGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation