Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Srgap2'

58184

Institutional Source

Beutler Lab

Gene Symbol

Srgap2

Ensembl Gene

ENSMUSG00000026425

Gene Name

SLIT-ROBO Rho GTPase activating protein 2

Synonyms

Fnbp2, 9930124L22Rik, FBP2

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0008 (G1)

Quality Score

111

Status

Validated

Chromosome

Chromosomal Location

131212989-131455090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131283302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 260 (T260A)

Ref Sequence

ENSEMBL: ENSMUSP00000095195 (fasta)

Gene Model

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

AlphaFold

Q91Z67

Predicted Effect

probably damaging
Transcript: ENSMUST00000097588
AA Change: T260A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: T260A

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: ENSMUST00000185596
AA Change: T119A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: T119A

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: T260A

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: T260A

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

Meta Mutation Damage Score

0.1115

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (109/111)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Adtrp	T	C	13: 41,920,941 (GRCm39)	T88A	probably damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Apoe	G	A	7: 19,431,005 (GRCm39)	T79M	probably damaging	Het
Arrdc3	T	A	13: 81,032,011 (GRCm39)	Y81*	probably null	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Asah2	T	A	19: 31,981,131 (GRCm39)	K629*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
C130074G19Rik	A	G	1: 184,615,119 (GRCm39)	S24P	probably benign	Het
C87436	A	G	6: 86,423,265 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Clcn2	T	C	16: 20,529,140 (GRCm39)	N367S	probably null	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Commd6	G	A	14: 101,877,709 (GRCm39)		probably benign	Het
Cox6a2	G	A	7: 127,805,212 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,022,287 (GRCm39)	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Eng	T	C	2: 32,567,692 (GRCm39)	V110A	probably damaging	Het
Esyt3	T	C	9: 99,220,860 (GRCm39)	I114M	possibly damaging	Het
Fam83h	A	T	15: 75,875,811 (GRCm39)	Y509N	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Fbxo21	A	G	5: 118,146,078 (GRCm39)	N567S	possibly damaging	Het
Fcsk	T	C	8: 111,610,865 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,879 (GRCm39)	L1964Q	probably damaging	Het
Gorasp1	G	T	9: 119,757,312 (GRCm39)	S353R	possibly damaging	Het
Grk2	C	T	19: 4,337,262 (GRCm39)	E646K	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Igf2bp2	T	C	16: 21,894,841 (GRCm39)	T301A	probably benign	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Kdm2b	G	A	5: 123,019,806 (GRCm39)	S738L	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mapk15	G	A	15: 75,870,103 (GRCm39)	E408K	probably benign	Het
Mdn1	T	A	4: 32,718,317 (GRCm39)	F2191I	possibly damaging	Het
Metrn	C	A	17: 26,015,479 (GRCm39)	V79F	possibly damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo3a	T	A	2: 22,469,753 (GRCm39)	I508N	probably damaging	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Ncapg2	T	C	12: 116,393,455 (GRCm39)	F553S	probably damaging	Het
Nipsnap3b	T	A	4: 53,015,112 (GRCm39)	L53Q	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Or2d3b	A	G	7: 106,514,226 (GRCm39)	I274V	probably benign	Het
Or2t6	T	A	14: 14,176,092 (GRCm38)		probably benign	Het
Or4a78	T	A	2: 89,497,428 (GRCm39)	K267N	probably damaging	Het
Or52e3	A	T	7: 102,869,558 (GRCm39)	D211V	probably damaging	Het
Or52e3	G	A	7: 102,869,584 (GRCm39)	A220T	probably benign	Het
Or5b122	A	G	19: 13,563,240 (GRCm39)	I191V	probably benign	Het
Pax9	A	G	12: 56,756,528 (GRCm39)	T289A	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Pdlim4	C	T	11: 53,945,875 (GRCm39)	V327M	probably damaging	Het
Pdzph1	T	A	17: 59,229,756 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prdm1	C	T	10: 44,317,675 (GRCm39)	E398K	probably damaging	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Prkdc	T	A	16: 15,526,565 (GRCm39)		probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Ptk7	G	A	17: 46,883,688 (GRCm39)		probably benign	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Rnf213	A	C	11: 119,355,878 (GRCm39)	E4108A	possibly damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Sec24d	C	A	3: 123,144,525 (GRCm39)		probably benign	Het
Sh2d3c	C	G	2: 32,643,033 (GRCm39)	H587D	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Slc46a2	T	A	4: 59,914,544 (GRCm39)	L126F	probably damaging	Het
Slc4a8	T	C	15: 100,698,374 (GRCm39)	M621T	possibly damaging	Het
Slc9b2	T	A	3: 135,042,269 (GRCm39)	V516D	possibly damaging	Het
Slco1a6	T	A	6: 142,102,948 (GRCm39)		probably benign	Het
Sncg	C	T	14: 34,096,495 (GRCm39)	V15I	probably benign	Het
Stk10	T	A	11: 32,537,305 (GRCm39)		probably benign	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp1	C	T	12: 99,921,217 (GRCm39)		probably benign	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tgfbi	T	A	13: 56,777,587 (GRCm39)	I357N	probably benign	Het
Tmem116	A	G	5: 121,633,159 (GRCm39)	T178A	probably damaging	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Top2a	A	T	11: 98,893,729 (GRCm39)	L1055*	probably null	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Trpv2	A	G	11: 62,481,086 (GRCm39)	Y395C	probably damaging	Het
Ubn2	T	A	6: 38,411,535 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,157,487 (GRCm39)	T2348M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn1r33	C	A	6: 66,589,510 (GRCm39)	G15*	probably null	Het
Vmn1r37	T	A	6: 66,708,769 (GRCm39)	S95T	probably benign	Het
Vmn2r57	A	G	7: 41,050,076 (GRCm39)	C558R	probably damaging	Het
Vnn1	T	C	10: 23,774,500 (GRCm39)		probably null	Het
Vps13c	T	C	9: 67,826,544 (GRCm39)	V1395A	probably benign	Het
Vwa7	A	G	17: 35,238,781 (GRCm39)	I290V	probably benign	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfp942	A	T	17: 22,147,319 (GRCm39)	C437S	probably damaging	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly damaging	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
IGL01964:Srgap2	APN	1	131,217,316 (GRCm39)	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- ACAATGGATCATGGCTGCTATCTTCAC -3'
(R):5'- TGGCCTTCATCTCTCCCAGAACAG -3'

Sequencing Primer
(F):5'- ATGGCTGCTATCTTCACATTATTC -3'
(R):5'- ccaacatccacagagacataaag -3'

Posted On

2013-07-11