Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Sos2'

58916

Institutional Source

Beutler Lab

Gene Symbol

Sos2

Ensembl Gene

ENSMUSG00000034801

Gene Name

SOS Ras/Rho guanine nucleotide exchange factor 2

Synonyms

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0233 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

69630536-69728626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69664104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 460 (I460N)

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: I459N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: I459N

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: I427N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: I427N

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: I460N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: I460N

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

0.1408

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,966,606 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,006,780 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Copa	T	C	1: 171,915,234 (GRCm39)		probably null	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,216 (GRCm39)	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fam13b	T	A	18: 34,581,137 (GRCm39)	Y675F	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Foxp2	T	C	6: 15,409,752 (GRCm39)	S451P	probably damaging	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm9920	A	T	15: 54,975,857 (GRCm39)		probably benign	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,942,473 (GRCm39)	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,532,372 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,828,100 (GRCm39)		probably null	Het
Kpna2	T	C	11: 106,883,457 (GRCm39)	S111G	probably benign	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Macf1	G	A	4: 123,343,920 (GRCm39)		probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Parl	G	A	16: 20,106,657 (GRCm39)	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Prg4	T	C	1: 150,329,298 (GRCm39)		probably benign	Het
Prkab1	A	G	5: 116,159,711 (GRCm39)		probably benign	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Sulf2	T	C	2: 165,927,589 (GRCm39)		probably benign	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,248,398 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Wdr7	A	G	18: 64,037,172 (GRCm39)	T1199A	probably benign	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	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
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
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'- TGCACCCCAACTCTGAAGTGTCCT -3'
(R):5'- CGTCAATTAAGAAGCAAACACCTGGCT -3'

Sequencing Primer
(F):5'- ATACATATCTGGACTGGGTAGCCTC -3'
(R):5'- CACCTGGCTATCAAAAAAATGAATG -3'

Posted On

2013-07-11