Mutagenetix > Incidental Mutation

Incidental Mutation 'R8365:Srgap3'

646137

Institutional Source

Beutler Lab

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

Arhgap14, D130026O08Rik

MMRRC Submission

067736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R8365 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112694932-112924227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112793695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000085712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088373
AA Change: S94P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: S94P

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
RhoGAP	517	691	7.43e-66	SMART
SH3	747	802	9.69e-15	SMART
coiled coil region	955	985	N/A	INTRINSIC
low complexity region	1025	1038	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113169
AA Change: S94P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: S94P

Domain	Start	End	E-Value	Type
FCH	22	120	3.81e-16	SMART
low complexity region	172	190	N/A	INTRINSIC
coiled coil region	353	392	N/A	INTRINSIC
Blast:RhoGAP	434	474	4e-11	BLAST
low complexity region	476	488	N/A	INTRINSIC
RhoGAP	493	667	7.43e-66	SMART
SH3	723	778	9.69e-15	SMART
coiled coil region	931	961	N/A	INTRINSIC
low complexity region	1001	1014	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduction in spine density in the brain CA1 and cortical layers IV/V. Mice homozygous for a different knock-out allele exhibit a neurodevelopment disorder with schizophrenia-related intermediate phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,557,918 (GRCm39)	C79*	probably null	Het
Abcc9	A	T	6: 142,544,798 (GRCm39)	S1430T	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd17	T	C	5: 90,398,378 (GRCm39)	K1724R	possibly damaging	Het
Brf2	A	G	8: 27,618,566 (GRCm39)	S13P	possibly damaging	Het
Cfap46	T	A	7: 139,263,000 (GRCm39)	K18*	probably null	Het
Cym	T	G	3: 107,120,182 (GRCm39)	I306L	probably benign	Het
Cyp2c66	A	T	19: 39,165,048 (GRCm39)	H343L	probably benign	Het
Cyp2d34	T	C	15: 82,504,874 (GRCm39)	Y62C	probably damaging	Het
D630045J12Rik	A	G	6: 38,172,570 (GRCm39)	S533P	probably benign	Het
Dnajc10	A	G	2: 80,176,902 (GRCm39)	Y619C	probably damaging	Het
Dnal1	T	A	12: 84,178,163 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,502,277 (GRCm39)	M914K	probably damaging	Het
Epb41l2	C	A	10: 25,317,584 (GRCm39)	Q34K	probably benign	Het
Esyt1	T	G	10: 128,352,422 (GRCm39)	N730H	possibly damaging	Het
Fbxo15	T	G	18: 84,980,739 (GRCm39)	I238S	probably damaging	Het
Foxn3	T	C	12: 99,307,727 (GRCm39)	K204E	probably damaging	Het
Gtf2i	G	A	5: 134,303,434 (GRCm39)	S279L	probably benign	Het
Hhatl	A	G	9: 121,618,931 (GRCm39)	M67T	probably damaging	Het
Itpkc	C	A	7: 26,911,777 (GRCm39)	R598L	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Jkampl	A	T	6: 73,446,329 (GRCm39)	N73K	probably benign	Het
Kctd18	A	T	1: 57,998,311 (GRCm39)	I263N	probably damaging	Het
Map1a	T	A	2: 121,138,528 (GRCm39)	M3002K	probably damaging	Het
Med13l	T	A	5: 118,866,709 (GRCm39)	S588T	possibly damaging	Het
Pcdh8	T	A	14: 80,008,426 (GRCm39)	I46F	probably damaging	Het
Prdm6	T	C	18: 53,685,137 (GRCm39)	V392A	probably benign	Het
Ptprt	T	A	2: 161,743,451 (GRCm39)	I497F	probably benign	Het
Rorc	A	G	3: 94,282,366 (GRCm39)	H22R	probably benign	Het
Scaf8	A	G	17: 3,246,241 (GRCm39)	I777V	possibly damaging	Het
Shroom1	A	T	11: 53,356,468 (GRCm39)	R444*	probably null	Het
Srcap	C	T	7: 127,148,869 (GRCm39)	T2030I	probably damaging	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Ttc27	C	T	17: 75,054,669 (GRCm39)	T325I	probably damaging	Het
Ucp1	A	C	8: 84,020,628 (GRCm39)	H146P	probably damaging	Het
Vmn1r167	A	T	7: 23,204,200 (GRCm39)	I272N	probably benign	Het
Vmn2r1	T	C	3: 63,994,034 (GRCm39)	S127P	possibly damaging	Het
Vtcn1	A	G	3: 100,791,145 (GRCm39)	D61G	probably benign	Het
Zfp994	A	T	17: 22,420,227 (GRCm39)	C241S	probably damaging	Het

Other mutations in Srgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Srgap3	APN	6	112,716,358 (GRCm39)	missense	probably damaging	0.98
IGL01325:Srgap3	APN	6	112,752,647 (GRCm39)	missense	probably damaging	1.00
IGL01608:Srgap3	APN	6	112,923,439 (GRCm39)	missense	probably benign	0.00
IGL01626:Srgap3	APN	6	112,750,609 (GRCm39)	missense	probably damaging	0.98
IGL01787:Srgap3	APN	6	112,699,983 (GRCm39)	missense	probably benign	0.00
IGL02698:Srgap3	APN	6	112,723,889 (GRCm39)	missense	probably damaging	0.98
IGL02805:Srgap3	APN	6	112,704,224 (GRCm39)	missense	probably damaging	0.99
IGL02813:Srgap3	APN	6	112,708,441 (GRCm39)	missense	probably damaging	1.00
IGL02876:Srgap3	APN	6	112,748,414 (GRCm39)	missense	probably damaging	1.00
IGL03264:Srgap3	APN	6	112,793,636 (GRCm39)	missense	probably damaging	1.00
IGL03342:Srgap3	APN	6	112,752,648 (GRCm39)	missense	probably damaging	1.00
R0007:Srgap3	UTSW	6	112,806,473 (GRCm39)	missense	probably damaging	1.00
R0371:Srgap3	UTSW	6	112,748,432 (GRCm39)	missense	probably damaging	0.99
R0607:Srgap3	UTSW	6	112,700,080 (GRCm39)	missense	probably damaging	1.00
R1628:Srgap3	UTSW	6	112,716,331 (GRCm39)	missense	probably damaging	0.99
R1669:Srgap3	UTSW	6	112,699,865 (GRCm39)	missense	probably benign	0.36
R1858:Srgap3	UTSW	6	112,748,479 (GRCm39)	missense	probably damaging	1.00
R1876:Srgap3	UTSW	6	112,752,527 (GRCm39)	missense	probably damaging	0.98
R1896:Srgap3	UTSW	6	112,715,958 (GRCm39)	missense	probably benign	0.11
R2159:Srgap3	UTSW	6	112,748,339 (GRCm39)	missense	probably damaging	0.99
R2221:Srgap3	UTSW	6	112,923,454 (GRCm39)	missense	probably damaging	0.98
R2862:Srgap3	UTSW	6	112,699,933 (GRCm39)	missense	probably damaging	0.99
R3160:Srgap3	UTSW	6	112,706,619 (GRCm39)	missense	probably benign	0.00
R3162:Srgap3	UTSW	6	112,706,619 (GRCm39)	missense	probably benign	0.00
R4092:Srgap3	UTSW	6	112,700,045 (GRCm39)	missense	probably benign	0.00
R4561:Srgap3	UTSW	6	112,758,015 (GRCm39)	missense	probably damaging	0.98
R4781:Srgap3	UTSW	6	112,734,386 (GRCm39)	intron	probably benign
R4825:Srgap3	UTSW	6	112,704,271 (GRCm39)	missense	probably benign
R4887:Srgap3	UTSW	6	112,723,895 (GRCm39)	missense	probably damaging	1.00
R5304:Srgap3	UTSW	6	112,743,900 (GRCm39)	missense	probably damaging	1.00
R5556:Srgap3	UTSW	6	112,716,039 (GRCm39)	missense	probably damaging	0.99
R5672:Srgap3	UTSW	6	112,752,522 (GRCm39)	missense	probably benign
R5879:Srgap3	UTSW	6	112,699,807 (GRCm39)	missense	possibly damaging	0.67
R5944:Srgap3	UTSW	6	112,772,775 (GRCm39)	missense	possibly damaging	0.89
R6277:Srgap3	UTSW	6	112,716,344 (GRCm39)	missense	probably benign	0.02
R6298:Srgap3	UTSW	6	112,793,571 (GRCm39)	missense	probably damaging	0.98
R6407:Srgap3	UTSW	6	112,699,967 (GRCm39)	missense	probably damaging	0.99
R6408:Srgap3	UTSW	6	112,699,967 (GRCm39)	missense	probably damaging	0.99
R6797:Srgap3	UTSW	6	112,806,503 (GRCm39)	missense	probably damaging	1.00
R6852:Srgap3	UTSW	6	112,793,622 (GRCm39)	missense	probably damaging	1.00
R6965:Srgap3	UTSW	6	112,700,090 (GRCm39)	missense	probably damaging	1.00
R7055:Srgap3	UTSW	6	112,723,924 (GRCm39)	missense	probably damaging	0.97
R7067:Srgap3	UTSW	6	112,734,266 (GRCm39)	intron	probably benign
R7361:Srgap3	UTSW	6	112,723,882 (GRCm39)	missense	probably damaging	0.99
R7479:Srgap3	UTSW	6	112,712,794 (GRCm39)	critical splice donor site	probably null
R7606:Srgap3	UTSW	6	112,716,337 (GRCm39)	missense	probably benign	0.00
R7731:Srgap3	UTSW	6	112,743,858 (GRCm39)	missense	probably benign	0.36
R7787:Srgap3	UTSW	6	112,752,520 (GRCm39)	missense	probably benign	0.02
R7934:Srgap3	UTSW	6	112,708,450 (GRCm39)	missense	probably damaging	1.00
R8026:Srgap3	UTSW	6	112,716,325 (GRCm39)	missense	probably benign	0.00
R8040:Srgap3	UTSW	6	112,716,325 (GRCm39)	missense	probably benign	0.00
R8066:Srgap3	UTSW	6	112,748,339 (GRCm39)	missense	probably damaging	0.99
R8067:Srgap3	UTSW	6	112,716,325 (GRCm39)	missense	probably benign	0.00
R8090:Srgap3	UTSW	6	112,757,996 (GRCm39)	nonsense	probably null
R8151:Srgap3	UTSW	6	112,793,628 (GRCm39)	missense	probably damaging	1.00
R8248:Srgap3	UTSW	6	112,700,104 (GRCm39)	missense	probably damaging	1.00
R8369:Srgap3	UTSW	6	112,699,779 (GRCm39)	missense	probably benign
R8444:Srgap3	UTSW	6	112,752,509 (GRCm39)	missense	possibly damaging	0.56
R8509:Srgap3	UTSW	6	112,708,297 (GRCm39)	nonsense	probably null
R8772:Srgap3	UTSW	6	112,743,906 (GRCm39)	missense	probably damaging	1.00
R8827:Srgap3	UTSW	6	112,716,302 (GRCm39)	missense	probably damaging	1.00
R8881:Srgap3	UTSW	6	112,700,098 (GRCm39)	missense	probably benign
R9002:Srgap3	UTSW	6	112,757,854 (GRCm39)	missense	possibly damaging	0.76
R9041:Srgap3	UTSW	6	112,754,054 (GRCm39)	missense	probably damaging	0.99
R9198:Srgap3	UTSW	6	112,743,865 (GRCm39)	missense	probably damaging	1.00
R9404:Srgap3	UTSW	6	112,706,616 (GRCm39)	missense	probably benign	0.04
R9616:Srgap3	UTSW	6	112,748,524 (GRCm39)	missense	probably damaging	1.00
X0062:Srgap3	UTSW	6	112,772,747 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATGGCTGGTCTGGGAAAG -3'
(R):5'- TCTTCAGAGAAAGCATAGGGC -3'

Sequencing Primer
(F):5'- GAGACCCAGGGCAGATAGG -3'
(R):5'- AGCACGCTCTATAACTGTGG -3'

Posted On

2020-09-02