Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02684:Sos2'

303468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sos2

Ensembl Gene

ENSMUSG00000034801

Gene Name

SOS Ras/Rho guanine nucleotide exchange factor 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

69630536-69728626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69643440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 980 (L980S)

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 damaging
Transcript: ENSMUST00000035773
AA Change: L979S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: L979S

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: L947S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: L947S

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

noncoding transcript
Transcript: ENSMUST00000182838

Predicted Effect

probably damaging
Transcript: ENSMUST00000183277
AA Change: L980S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: L980S

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

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,532,020 (GRCm39)	L185*	probably null	Het
Aadacl4fm5	A	G	4: 144,504,755 (GRCm39)		probably benign	Het
Actrt3	A	T	3: 30,653,840 (GRCm39)	D53E	probably benign	Het
Ankrd34b	T	C	13: 92,575,016 (GRCm39)	S83P	probably damaging	Het
Asap1	A	G	15: 63,966,018 (GRCm39)	V1029A	probably benign	Het
Blk	T	C	14: 63,617,143 (GRCm39)	E288G	probably benign	Het
Cep192	T	G	18: 67,967,634 (GRCm39)	V706G	probably damaging	Het
Chd2	T	C	7: 73,125,097 (GRCm39)	K908E	probably damaging	Het
Dnm1l	A	T	16: 16,139,521 (GRCm39)	I391N	possibly damaging	Het
Fmn1	A	G	2: 113,355,622 (GRCm39)	R688G	unknown	Het
Gdap2	A	G	3: 100,078,336 (GRCm39)	D100G	probably benign	Het
Gm43638	T	C	5: 87,610,769 (GRCm39)	I522V	possibly damaging	Het
Gsap	A	T	5: 21,447,801 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,905 (GRCm39)	S159G	probably benign	Het
Ints7	A	G	1: 191,345,749 (GRCm39)		probably null	Het
Iqsec3	G	A	6: 121,389,900 (GRCm39)	Q524*	probably null	Het
Klra10	T	A	6: 130,258,845 (GRCm39)	H14L	possibly damaging	Het
Lratd1	T	C	12: 14,200,646 (GRCm39)	D27G	probably damaging	Het
Mettl15	T	C	2: 108,961,925 (GRCm39)	E228G	probably damaging	Het
Or51v8	T	C	7: 103,319,591 (GRCm39)	M216V	probably benign	Het
Or9s18	G	A	13: 65,300,210 (GRCm39)	M57I	probably damaging	Het
Pabpc1l	A	G	2: 163,873,197 (GRCm39)	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,379,605 (GRCm39)		probably null	Het
Pm20d1	T	A	1: 131,732,697 (GRCm39)	N345K	probably benign	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Stam2	A	T	2: 52,609,947 (GRCm39)	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,779,571 (GRCm39)		probably benign	Het
Trpm7	A	T	2: 126,688,079 (GRCm39)	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,708,539 (GRCm39)	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,404,887 (GRCm39)	L172P	probably damaging	Het
Vrtn	A	G	12: 84,696,923 (GRCm39)	R558G	probably benign	Het
Zfp977	A	T	7: 42,232,439 (GRCm39)	D7E	probably 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
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
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

Posted On

2015-04-16