Mutagenetix > Incidental Mutation

Incidental Mutation 'R6180:Srgap2'

487965

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

044322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131212989-131455090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131277279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000139405 (fasta)

Gene Model

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

AlphaFold

Q91Z67

Predicted Effect

probably benign
Transcript: ENSMUST00000097588
AA Change: T323A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095195
Gene: ENSMUSG00000026425
AA Change: T323A

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: T182A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141140
Gene: ENSMUSG00000026425
AA Change: T182A

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

probably benign
Transcript: ENSMUST00000186543
AA Change: T323A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139405
Gene: ENSMUSG00000026425
AA Change: T323A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 41,279,610 (GRCm39)	N667S	probably benign	Het
Ap4e1	T	A	2: 126,908,508 (GRCm39)	C1085*	probably null	Het
BC035044	A	T	6: 128,861,997 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,164,084 (GRCm39)	M1142V	possibly damaging	Het
Capn11	T	C	17: 45,941,692 (GRCm39)	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917 (GRCm39)	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,925,945 (GRCm39)	K218R	possibly damaging	Het
Ccno	T	C	13: 113,126,379 (GRCm39)	S283P	probably damaging	Het
Ccser2	A	T	14: 36,662,276 (GRCm39)	S303T	probably benign	Het
Cd53	T	A	3: 106,674,680 (GRCm39)	N129I	probably damaging	Het
Cd63	G	A	10: 128,747,933 (GRCm39)		probably null	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam2	A	G	17: 49,776,694 (GRCm39)	M797T	probably damaging	Het
Dennd2b	A	C	7: 109,156,095 (GRCm39)	D218E	probably benign	Het
Dmgdh	G	A	13: 93,888,794 (GRCm39)	V811I	possibly damaging	Het
Dpysl4	A	T	7: 138,670,250 (GRCm39)	T123S	probably damaging	Het
Erap1	A	G	13: 74,814,345 (GRCm39)	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,177,902 (GRCm39)	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,215,747 (GRCm39)	D167G	probably damaging	Het
Flrt2	C	T	12: 95,746,012 (GRCm39)	Q117*	probably null	Het
Ftsj3	A	T	11: 106,144,166 (GRCm39)		probably null	Het
Ggn	A	G	7: 28,872,474 (GRCm39)	Y618C	probably damaging	Het
Glis1	T	A	4: 107,484,710 (GRCm39)	S402T	probably benign	Het
Gm4781	T	A	10: 100,232,349 (GRCm39)		noncoding transcript	Het
Gm7168	T	A	17: 14,168,858 (GRCm39)	I75K	probably damaging	Het
Gm7298	C	T	6: 121,737,782 (GRCm39)	H348Y	probably benign	Het
Gria1	G	T	11: 57,133,618 (GRCm39)	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,389 (GRCm39)	T549M	probably damaging	Het
H2-M10.6	T	A	17: 37,125,178 (GRCm39)	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,236,929 (GRCm39)	V336I	probably benign	Het
Il12b	G	A	11: 44,303,453 (GRCm39)	A327T	probably benign	Het
Inpp4a	C	A	1: 37,419,183 (GRCm39)	P588T	probably benign	Het
Kctd12	C	A	14: 103,219,027 (GRCm39)	D284Y	probably damaging	Het
Kif28	C	A	1: 179,525,337 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,723,479 (GRCm39)	N332S	probably benign	Het
Lama2	G	A	10: 26,857,495 (GRCm39)	T3118I	probably benign	Het
Lgi1	T	C	19: 38,253,404 (GRCm39)	L25P	probably damaging	Het
Lhx3	T	A	2: 26,091,503 (GRCm39)	M269L	probably benign	Het
Lmtk2	A	T	5: 144,112,160 (GRCm39)	E960V	probably damaging	Het
Loxl4	A	T	19: 42,596,791 (GRCm39)	D60E	probably damaging	Het
Lrp2	T	A	2: 69,333,868 (GRCm39)	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,224,677 (GRCm39)	S16T	probably damaging	Het
Mllt6	G	A	11: 97,569,362 (GRCm39)	A875T	possibly damaging	Het
Mrgprb4	A	T	7: 47,848,574 (GRCm39)	I118N	probably damaging	Het
Mrps7	A	G	11: 115,495,707 (GRCm39)	T82A	possibly damaging	Het
Mug2	A	G	6: 122,056,565 (GRCm39)	E1170G	probably benign	Het
Nav2	A	G	7: 49,107,915 (GRCm39)	H647R	probably benign	Het
Nbeal2	T	C	9: 110,454,215 (GRCm39)	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,268,395 (GRCm39)	I644L	possibly damaging	Het
Or4c108	T	G	2: 88,804,226 (GRCm39)	N3T	probably damaging	Het
Or8g33	A	T	9: 39,338,008 (GRCm39)	Y120N	probably damaging	Het
Padi4	A	G	4: 140,483,784 (GRCm39)	M352T	possibly damaging	Het
Pals1	C	T	12: 78,864,084 (GRCm39)	H216Y	probably benign	Het
Pcdhgc3	C	A	18: 37,939,990 (GRCm39)	D130E	probably damaging	Het
Pde6a	A	T	18: 61,417,163 (GRCm39)		probably null	Het
Pdpn	C	T	4: 143,025,792 (GRCm39)	G12R	probably damaging	Het
Pot1a	A	T	6: 25,771,620 (GRCm39)	D200E	probably benign	Het
Ppa1	A	T	10: 61,503,431 (GRCm39)	D236V	probably benign	Het
Ptprn2	T	A	12: 116,822,739 (GRCm39)	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,165,609 (GRCm39)	E297G	probably damaging	Het
Rgl1	T	C	1: 152,394,923 (GRCm39)	N750S	probably damaging	Het
Rinl	A	G	7: 28,496,365 (GRCm39)	N449D	probably benign	Het
Samd8	T	A	14: 21,825,093 (GRCm39)	H79Q	probably benign	Het
Scn11a	T	C	9: 119,583,933 (GRCm39)	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,400,938 (GRCm39)	L105P	probably benign	Het
Slc7a12	A	T	3: 14,546,200 (GRCm39)		probably null	Het
Slco1a4	A	G	6: 141,763,546 (GRCm39)	I390T	possibly damaging	Het
Snta1	T	C	2: 154,219,102 (GRCm39)	N411S	probably benign	Het
Ssh2	G	T	11: 77,344,291 (GRCm39)	V759L	probably benign	Het
Swap70	G	T	7: 109,869,188 (GRCm39)	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,696,206 (GRCm39)	C914F	probably benign	Het
Tbx3	A	G	5: 119,812,132 (GRCm39)	D144G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,681,857 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,041,468 (GRCm39)	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,132,068 (GRCm39)	C763*	probably null	Het
Vmn1r115	A	C	7: 20,578,640 (GRCm39)	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,659,499 (GRCm39)	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,476 (GRCm39)	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,039,012 (GRCm39)	V95A	probably damaging	Het
Vrk3	A	T	7: 44,419,035 (GRCm39)	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,500,082 (GRCm39)	A223E	probably benign	Het
Xirp2	T	C	2: 67,335,921 (GRCm39)		probably null	Het
Xpo7	T	C	14: 70,920,243 (GRCm39)	N642S	probably benign	Het
Ythdc1	G	A	5: 86,975,953 (GRCm39)	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,283,204 (GRCm39)	E316G	probably damaging	Het
Zfp488	T	A	14: 33,692,751 (GRCm39)	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,789,542 (GRCm39)	V994L	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
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
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
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'- AGGAACTATGGCCAGACGTG -3'
(R):5'- TCAGACCTTGAGATGTCTGTG -3'

Sequencing Primer
(F):5'- AGACGTGGGCTATCCTCC -3'
(R):5'- GGTGTGCTTATGTGCCTTCTCC -3'

Posted On

2017-10-10