Mutagenetix > Incidental Mutations

Incidental Mutation 'R0016:Srgap2'

8336

Institutional Source

Beutler Lab

Gene Symbol

Srgap2

Ensembl Gene

ENSMUSG00000026425

Gene Name

SLIT-ROBO Rho GTPase activating protein 2

Synonyms

FBP2, Fnbp2, 9930124L22Rik

MMRRC Submission

038311-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0016 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131285251-131527352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131349462 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 349 (M349T)

Ref Sequence

ENSEMBL: ENSMUSP00000095195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097588] [ENSMUST00000185596] [ENSMUST00000186543]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097588
AA Change: M349T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: M349T

Domain	Start	End	E-Value	Type
FCH	22	120	7.33e-18	SMART
low complexity region	178	191	N/A	INTRINSIC
coiled coil region	363	401	N/A	INTRINSIC
Blast:RhoGAP	445	490	7e-12	BLAST
RhoGAP	502	676	9.6e-60	SMART
SH3	731	786	4.52e-15	SMART
low complexity region	852	868	N/A	INTRINSIC
coiled coil region	940	967	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185596
AA Change: M208T

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: M208T

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC
coiled coil region	222	260	N/A	INTRINSIC
Blast:RhoGAP	304	349	5e-12	BLAST
RhoGAP	361	535	5.9e-62	SMART
SH3	590	645	2.8e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186543
AA Change: M349T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: M349T

Domain	Start	End	E-Value	Type
FCH	22	120	3.7e-20	SMART
low complexity region	178	191	N/A	INTRINSIC
coiled coil region	363	401	N/A	INTRINSIC
Blast:RhoGAP	445	490	7e-12	BLAST
RhoGAP	502	676	5.9e-62	SMART
SH3	731	786	2.8e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188770

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 81.7%
3x: 74.6%
10x: 53.6%
20x: 32.4%

Validation Efficiency

93% (85/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are born at below the expected Mendelian ratio, but are otherwise viable. Layer 5 cortical pyramidal neurons exhibit an increased density of dendritic spines with a decreased spine head width and increased length of spine necks. [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
Abca12	A	C	1: 71,294,800	V1181G	probably benign	Het
Adamts12	A	T	15: 11,217,829	I291F	probably damaging	Het
Aspm	G	C	1: 139,479,544	Q2056H	probably benign	Het
BC067074	T	C	13: 113,366,105	Y115H	probably damaging	Het
C7	A	T	15: 5,046,924	V122E	probably benign	Het
Casp12	A	T	9: 5,352,844	Q152L	probably null	Het
Cpne8	A	G	15: 90,501,405		probably benign	Het
Cyp2j7	T	A	4: 96,202,147	I347F	probably damaging	Het
Dync2h1	A	G	9: 7,144,346		probably benign	Het
Echdc1	A	T	10: 29,322,421		probably benign	Het
Elovl3	T	A	19: 46,132,158	F30Y	probably damaging	Het
Fam208b	A	C	13: 3,585,170		probably null	Het
Fgd3	C	T	13: 49,296,609	D55N	probably benign	Het
Fhod1	T	C	8: 105,331,655	E823G	possibly damaging	Het
Gapvd1	A	G	2: 34,699,913		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Kif27	A	G	13: 58,354,714	V50A	probably damaging	Het
Lrp2bp	T	A	8: 46,012,031	F62L	probably damaging	Het
Marf1	G	A	16: 14,152,265	H197Y	probably damaging	Het
Mon2	C	T	10: 123,035,546	V389M	probably damaging	Het
Myh8	A	G	11: 67,298,525	K1176E	probably damaging	Het
Nckap1l	A	G	15: 103,475,636	T554A	probably benign	Het
Oog3	A	G	4: 144,158,071	Y432H	probably damaging	Het
Sorbs1	A	G	19: 40,314,738		probably benign	Het
Stc2	A	T	11: 31,360,177	D286E	probably benign	Het
Stk31	T	C	6: 49,437,377	Y482H	probably damaging	Het
Sycp2l	A	G	13: 41,157,500		probably benign	Het
Tcrg-V5	G	A	13: 19,192,719	W112*	probably null	Het
Trim27	A	T	13: 21,191,229	E310V	probably benign	Het
Uvrag	T	C	7: 98,991,981	K284R	probably benign	Het
Xylt2	A	G	11: 94,669,640	S270P	probably damaging	Het
Zwint	T	C	10: 72,657,198		probably benign	Het

Other mutations in Srgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Srgap2	APN	1	131356700	missense	possibly damaging	0.89
IGL01738:Srgap2	APN	1	131296426	missense	probably benign	0.00
IGL01933:Srgap2	APN	1	131411855	missense	probably damaging	1.00
IGL01964:Srgap2	APN	1	131289578	missense	probably benign	0.08
IGL02028:Srgap2	APN	1	131296435	missense	probably damaging	0.98
IGL02159:Srgap2	APN	1	131319666	splice site	probably benign
IGL02326:Srgap2	APN	1	131356907	critical splice acceptor site	probably null
IGL02396:Srgap2	APN	1	131292675	missense	probably damaging	0.99
IGL02407:Srgap2	APN	1	131319602	missense	probably damaging	1.00
IGL02444:Srgap2	APN	1	131325153	splice site	probably null
IGL02559:Srgap2	APN	1	131524936	critical splice donor site	probably null
IGL02900:Srgap2	APN	1	131411796	splice site	probably benign
IGL03150:Srgap2	APN	1	131310600	missense	probably damaging	1.00
R0008:Srgap2	UTSW	1	131355564	missense	probably damaging	0.99
R0008:Srgap2	UTSW	1	131355564	missense	probably damaging	0.99
R0016:Srgap2	UTSW	1	131349462	missense	possibly damaging	0.95
R0044:Srgap2	UTSW	1	131319551	missense	possibly damaging	0.68
R0441:Srgap2	UTSW	1	131336437	missense	probably damaging	1.00
R0580:Srgap2	UTSW	1	131349501	missense	possibly damaging	0.81
R0882:Srgap2	UTSW	1	131289515	missense	probably benign	0.00
R1412:Srgap2	UTSW	1	131300413	missense	possibly damaging	0.81
R1501:Srgap2	UTSW	1	131292699	missense	probably damaging	1.00
R1740:Srgap2	UTSW	1	131289388	missense	probably benign	0.00
R1764:Srgap2	UTSW	1	131319537	missense	possibly damaging	0.94
R1772:Srgap2	UTSW	1	131319638	missense	probably damaging	0.99
R1776:Srgap2	UTSW	1	131411850	missense	probably damaging	1.00
R2393:Srgap2	UTSW	1	131332134	missense	probably benign	0.00
R3011:Srgap2	UTSW	1	131310591	missense	probably damaging	0.99
R3149:Srgap2	UTSW	1	131292589	missense	probably benign	0.00
R3150:Srgap2	UTSW	1	131292589	missense	probably benign	0.00
R3800:Srgap2	UTSW	1	131310559	missense	probably damaging	1.00
R4871:Srgap2	UTSW	1	131289472	missense	probably benign	0.00
R4884:Srgap2	UTSW	1	131292576	unclassified	probably null
R5454:Srgap2	UTSW	1	131289737	missense	probably benign	0.08
R5536:Srgap2	UTSW	1	131300390	splice site	probably null
R6113:Srgap2	UTSW	1	131355505	splice site	probably null
R6174:Srgap2	UTSW	1	131289616	missense	probably benign	0.00
R6180:Srgap2	UTSW	1	131349541	missense	probably benign	0.00
R6341:Srgap2	UTSW	1	131291629	missense	probably benign	0.02
R6357:Srgap2	UTSW	1	131355542	missense	probably damaging	1.00
R6363:Srgap2	UTSW	1	131298468	missense	probably damaging	1.00
R6770:Srgap2	UTSW	1	131298510	missense	probably benign	0.00
R6934:Srgap2	UTSW	1	131317231	missense	possibly damaging	0.81
R7007:Srgap2	UTSW	1	131319537	missense	probably benign	0.15
R7077:Srgap2	UTSW	1	131344449	missense
R7147:Srgap2	UTSW	1	131310594	missense
R7326:Srgap2	UTSW	1	131291613	nonsense	probably null
R7467:Srgap2	UTSW	1	131292667	missense	probably damaging	0.97
R7500:Srgap2	UTSW	1	131436831	missense	probably damaging	1.00
R7579:Srgap2	UTSW	1	131292633	missense	probably damaging	0.99
X0022:Srgap2	UTSW	1	131411949	missense	probably benign	0.01

Posted On

2012-11-21