Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Sos2'

629231

Institutional Source

Beutler Lab

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 #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69630536-69728626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69653989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 788 (T788A)

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: T787A

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

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: T787A

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: T755A

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

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: T755A

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 damaging
Transcript: ENSMUST00000183277
AA Change: T788A

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

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: T788A

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

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		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
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
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'- GCCAGGAATCTCTCAACCTC -3'
(R):5'- CCTCTAGGGAAAGCCATGAAG -3'

Sequencing Primer
(F):5'- CCAGACTGATTGACTTAATCTCAGAC -3'
(R):5'- CCTCTAGGGAAAGCCATGAAGAAATG -3'

Posted On

2020-06-30