Incidental Mutation 'R4606:Sos2'
| ID |
346034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sos2
|
| Ensembl Gene |
ENSMUSG00000034801 |
| Gene Name |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
| Synonyms |
|
| MMRRC Submission |
041817-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4606 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69630536-69728626 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 69661380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183306
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (69/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,937,374 (GRCm39) |
W178R |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,896,345 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
A |
6: 34,283,599 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,634 (GRCm39) |
F1199S |
unknown |
Het |
| Atp4b |
A |
G |
8: 13,439,998 (GRCm39) |
F116S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,443 (GRCm39) |
S127P |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,611,652 (GRCm39) |
V428I |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 61,288,568 (GRCm39) |
S244P |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,173,951 (GRCm39) |
I235F |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,579 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,421 (GRCm39) |
I278F |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,104,388 (GRCm39) |
D299G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,113,210 (GRCm39) |
V1542I |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,095,248 (GRCm39) |
S2942R |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,016,015 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,593,508 (GRCm39) |
Y518C |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,760 (GRCm39) |
F606I |
possibly damaging |
Het |
| Extl1 |
A |
G |
4: 134,098,690 (GRCm39) |
S114P |
probably damaging |
Het |
| Extl1 |
A |
C |
4: 134,098,691 (GRCm39) |
D113E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,403,720 (GRCm39) |
V157A |
possibly damaging |
Het |
| Fcho1 |
A |
T |
8: 72,165,124 (GRCm39) |
D444E |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,450,036 (GRCm39) |
D71V |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,190 (GRCm39) |
D316E |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,210 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,886,608 (GRCm39) |
R360L |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,845,599 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
T |
15: 98,737,597 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
C |
10: 111,811,582 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,930 (GRCm39) |
E389K |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,460,658 (GRCm39) |
V428A |
probably benign |
Het |
| Lvrn |
C |
A |
18: 46,997,832 (GRCm39) |
T260K |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,601,488 (GRCm39) |
E614K |
probably damaging |
Het |
| Msrb3 |
A |
T |
10: 120,685,902 (GRCm39) |
V81D |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,832,268 (GRCm39) |
|
noncoding transcript |
Het |
| Myadm |
T |
A |
7: 3,345,916 (GRCm39) |
L226* |
probably null |
Het |
| Myof |
C |
T |
19: 37,955,547 (GRCm39) |
V526M |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,204 (GRCm39) |
|
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,718 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4b1 |
G |
T |
2: 89,979,160 (GRCm39) |
|
probably benign |
Het |
| Or4c35 |
C |
A |
2: 89,808,350 (GRCm39) |
A76D |
possibly damaging |
Het |
| Or9g10 |
T |
A |
2: 85,584,284 (GRCm39) |
|
probably benign |
Het |
| Pars2 |
T |
C |
4: 106,511,247 (GRCm39) |
V307A |
probably benign |
Het |
| Pcdhb1 |
T |
G |
18: 37,398,581 (GRCm39) |
Y177* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,705 (GRCm39) |
D338E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,224,780 (GRCm39) |
R199* |
probably null |
Het |
| Pla2g4f |
C |
T |
2: 120,144,467 (GRCm39) |
R24Q |
probably benign |
Het |
| Pnma2 |
T |
C |
14: 67,153,681 (GRCm39) |
I35T |
probably benign |
Het |
| Podn |
C |
A |
4: 107,875,064 (GRCm39) |
A568S |
probably benign |
Het |
| Pou3f1 |
A |
T |
4: 124,552,629 (GRCm39) |
E377V |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,461 (GRCm39) |
D137E |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,929,495 (GRCm39) |
T71S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,486 (GRCm39) |
P1192L |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf217 |
T |
A |
10: 31,393,472 (GRCm39) |
K370* |
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,563,187 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
C |
T |
2: 119,897,927 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,683,668 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
C |
A |
12: 76,036,027 (GRCm39) |
N3771K |
probably damaging |
Het |
| Tbx18 |
T |
C |
9: 87,612,822 (GRCm39) |
I26V |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,955,988 (GRCm39) |
M1140K |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,356 (GRCm39) |
|
probably null |
Het |
| Wdr7 |
C |
T |
18: 63,913,016 (GRCm39) |
Q946* |
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,553,975 (GRCm39) |
D46G |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,961,670 (GRCm39) |
N219S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,577,953 (GRCm39) |
I256T |
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 |
|
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'- GGACTCATATGTACGCAAATCTG -3'
(R):5'- TGTTGCATGCAAAGTCTCTTCC -3'
Sequencing Primer
(F):5'- TGAAGATAATCTACCATGTGACACAC -3'
(R):5'- GCATGCAAAGTCTCTTCCATTTAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation