Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01964:Srgap2'

181511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srgap2

Ensembl Gene

ENSMUSG00000026425

Gene Name

SLIT-ROBO Rho GTPase activating protein 2

Synonyms

Fnbp2, 9930124L22Rik, FBP2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01964

Quality Score

Status

Chromosome

Chromosomal Location

131212989-131455090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131217316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 999 (Q999K)

Ref Sequence

ENSEMBL: ENSMUSP00000095195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097588] [ENSMUST00000187042]

AlphaFold

Q91Z67

Predicted Effect

probably benign
Transcript: ENSMUST00000097588
AA Change: Q999K

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: Q999K

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

probably benign
Transcript: ENSMUST00000187042

SMART Domains

Protein: ENSMUSP00000140927
Gene: ENSMUSG00000026425

Domain	Start	End	E-Value	Type
SH3	25	80	2.8e-17	SMART
low complexity region	146	162	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 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	C	8: 44,079,798 (GRCm39)	I142S	probably benign	Het
Aknad1	T	C	3: 108,685,593 (GRCm39)	V579A	probably benign	Het
Ankrd11	A	G	8: 123,616,475 (GRCm39)	I2438T	probably damaging	Het
Cdh11	A	G	8: 103,391,375 (GRCm39)	V287A	probably benign	Het
Cdyl2	G	A	8: 117,350,768 (GRCm39)	S121L	probably benign	Het
Cyp2e1	A	T	7: 140,343,779 (GRCm39)	I6F	probably damaging	Het
Cyp3a16	A	T	5: 145,392,372 (GRCm39)	D194E	probably benign	Het
Eapp	G	T	12: 54,732,720 (GRCm39)	P126Q	probably damaging	Het
Efr3b	A	T	12: 4,032,928 (GRCm39)	L143Q	probably damaging	Het
Grin2c	C	T	11: 115,144,673 (GRCm39)	E618K	probably damaging	Het
Haus3	A	T	5: 34,323,405 (GRCm39)	Y402N	probably benign	Het
Iffo1	A	G	6: 125,128,364 (GRCm39)	D316G	probably damaging	Het
Kctd19	A	T	8: 106,115,157 (GRCm39)	M468K	probably damaging	Het
Kdm4b	T	A	17: 56,696,256 (GRCm39)		probably null	Het
Naip6	T	A	13: 100,435,238 (GRCm39)		probably benign	Het
Or5k15	A	T	16: 58,709,827 (GRCm39)	I252K	probably damaging	Het
Polr3c	T	C	3: 96,619,291 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,938,036 (GRCm39)	E60V	probably damaging	Het
Rnd2	T	C	11: 101,361,632 (GRCm39)		probably null	Het
Rufy3	A	G	5: 88,762,929 (GRCm39)	Q153R	probably damaging	Het
Shank1	T	A	7: 43,975,102 (GRCm39)	I399N	unknown	Het
Sin3a	T	C	9: 57,014,631 (GRCm39)		probably benign	Het
Sppl2b	T	A	10: 80,701,220 (GRCm39)		probably null	Het
Srgap1	G	A	10: 121,640,871 (GRCm39)	P665L	possibly damaging	Het
Tbxas1	G	A	6: 39,060,748 (GRCm39)	V496I	probably benign	Het
Vmn1r198	A	G	13: 22,538,576 (GRCm39)	M21V	probably benign	Het
Wdr90	T	C	17: 26,067,383 (GRCm39)	I1479V	probably benign	Het

Other mutations in Srgap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Srgap2	APN	1	131,284,438 (GRCm39)	missense	possibly damaging	0.89
IGL01738:Srgap2	APN	1	131,224,164 (GRCm39)	missense	probably benign	0.00
IGL01933:Srgap2	APN	1	131,339,593 (GRCm39)	missense	probably damaging	1.00
IGL02028:Srgap2	APN	1	131,224,173 (GRCm39)	missense	probably damaging	0.98
IGL02159:Srgap2	APN	1	131,247,404 (GRCm39)	splice site	probably benign
IGL02326:Srgap2	APN	1	131,284,645 (GRCm39)	critical splice acceptor site	probably null
IGL02396:Srgap2	APN	1	131,220,413 (GRCm39)	missense	probably damaging	0.99
IGL02407:Srgap2	APN	1	131,247,340 (GRCm39)	missense	probably damaging	1.00
IGL02444:Srgap2	APN	1	131,252,891 (GRCm39)	splice site	probably null
IGL02559:Srgap2	APN	1	131,452,674 (GRCm39)	critical splice donor site	probably null
IGL02900:Srgap2	APN	1	131,339,534 (GRCm39)	splice site	probably benign
IGL03150:Srgap2	APN	1	131,238,338 (GRCm39)	missense	probably damaging	1.00
R0008:Srgap2	UTSW	1	131,283,302 (GRCm39)	missense	probably damaging	0.99
R0008:Srgap2	UTSW	1	131,283,302 (GRCm39)	missense	probably damaging	0.99
R0016:Srgap2	UTSW	1	131,277,200 (GRCm39)	missense	possibly damaging	0.95
R0016:Srgap2	UTSW	1	131,277,200 (GRCm39)	missense	possibly damaging	0.95
R0044:Srgap2	UTSW	1	131,247,289 (GRCm39)	missense	possibly damaging	0.68
R0441:Srgap2	UTSW	1	131,264,175 (GRCm39)	missense	probably damaging	1.00
R0580:Srgap2	UTSW	1	131,277,239 (GRCm39)	missense	possibly damaging	0.81
R0882:Srgap2	UTSW	1	131,217,253 (GRCm39)	missense	probably benign	0.00
R1412:Srgap2	UTSW	1	131,228,151 (GRCm39)	missense	possibly damaging	0.81
R1501:Srgap2	UTSW	1	131,220,437 (GRCm39)	missense	probably damaging	1.00
R1740:Srgap2	UTSW	1	131,217,126 (GRCm39)	missense	probably benign	0.00
R1764:Srgap2	UTSW	1	131,247,275 (GRCm39)	missense	possibly damaging	0.94
R1772:Srgap2	UTSW	1	131,247,376 (GRCm39)	missense	probably damaging	0.99
R1776:Srgap2	UTSW	1	131,339,588 (GRCm39)	missense	probably damaging	1.00
R2393:Srgap2	UTSW	1	131,259,872 (GRCm39)	missense	probably benign	0.00
R3011:Srgap2	UTSW	1	131,238,329 (GRCm39)	missense	probably damaging	0.99
R3149:Srgap2	UTSW	1	131,220,327 (GRCm39)	missense	probably benign	0.00
R3150:Srgap2	UTSW	1	131,220,327 (GRCm39)	missense	probably benign	0.00
R3800:Srgap2	UTSW	1	131,238,297 (GRCm39)	missense	probably damaging	1.00
R4871:Srgap2	UTSW	1	131,217,210 (GRCm39)	missense	probably benign	0.00
R4884:Srgap2	UTSW	1	131,220,314 (GRCm39)	splice site	probably null
R5454:Srgap2	UTSW	1	131,217,475 (GRCm39)	missense	probably benign	0.08
R5536:Srgap2	UTSW	1	131,228,128 (GRCm39)	splice site	probably null
R6113:Srgap2	UTSW	1	131,283,243 (GRCm39)	splice site	probably null
R6174:Srgap2	UTSW	1	131,217,354 (GRCm39)	missense	probably benign	0.00
R6180:Srgap2	UTSW	1	131,277,279 (GRCm39)	missense	probably benign	0.00
R6341:Srgap2	UTSW	1	131,219,367 (GRCm39)	missense	probably benign	0.02
R6357:Srgap2	UTSW	1	131,283,280 (GRCm39)	missense	probably damaging	1.00
R6363:Srgap2	UTSW	1	131,226,206 (GRCm39)	missense	probably damaging	1.00
R6770:Srgap2	UTSW	1	131,226,248 (GRCm39)	missense	probably benign	0.00
R6934:Srgap2	UTSW	1	131,244,969 (GRCm39)	missense	possibly damaging	0.81
R7007:Srgap2	UTSW	1	131,247,275 (GRCm39)	missense	probably benign	0.15
R7077:Srgap2	UTSW	1	131,272,187 (GRCm39)	missense
R7147:Srgap2	UTSW	1	131,238,332 (GRCm39)	missense
R7326:Srgap2	UTSW	1	131,219,351 (GRCm39)	nonsense	probably null
R7467:Srgap2	UTSW	1	131,220,405 (GRCm39)	missense	probably damaging	0.97
R7500:Srgap2	UTSW	1	131,364,569 (GRCm39)	missense	probably damaging	1.00
R7579:Srgap2	UTSW	1	131,220,371 (GRCm39)	missense	probably damaging	0.99
R7923:Srgap2	UTSW	1	131,228,151 (GRCm39)	missense	possibly damaging	0.81
R7989:Srgap2	UTSW	1	131,226,170 (GRCm39)	missense
R8283:Srgap2	UTSW	1	131,291,771 (GRCm39)	missense	probably damaging	0.99
R8708:Srgap2	UTSW	1	131,273,544 (GRCm39)	nonsense	probably null
R8784:Srgap2	UTSW	1	131,223,212 (GRCm39)	missense	unknown
R8970:Srgap2	UTSW	1	131,226,104 (GRCm39)	missense
R9001:Srgap2	UTSW	1	131,291,798 (GRCm39)	missense	probably damaging	1.00
R9006:Srgap2	UTSW	1	131,283,307 (GRCm39)	missense	probably damaging	1.00
R9382:Srgap2	UTSW	1	131,217,346 (GRCm39)	missense	probably benign
R9389:Srgap2	UTSW	1	131,283,365 (GRCm39)	missense	probably damaging	0.96
R9599:Srgap2	UTSW	1	131,272,164 (GRCm39)	missense
R9616:Srgap2	UTSW	1	131,252,828 (GRCm39)	missense
X0022:Srgap2	UTSW	1	131,339,687 (GRCm39)	missense	probably benign	0.01
Z1177:Srgap2	UTSW	1	131,283,248 (GRCm39)	critical splice donor site	probably null

Posted On

2014-05-07