Mutagenetix > Incidental Mutation

Incidental Mutation 'R5672:Srgap3'

442673

Institutional Source

Beutler Lab

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

Arhgap14, D130026O08Rik

MMRRC Submission

043174-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R5672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112694932-112924227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112752522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 321 (M321L)

Ref Sequence

ENSEMBL: ENSMUSP00000108794 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060215

Predicted Effect

probably benign
Transcript: ENSMUST00000088373
AA Change: M321L

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

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: M321L

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 benign
Transcript: ENSMUST00000113169
AA Change: M321L

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

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: M321L

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,383 (GRCm39)	N181S	possibly damaging	Het
Abcf3	A	T	16: 20,368,002 (GRCm39)	Q74L	probably benign	Het
Ankrd13c	T	C	3: 157,666,664 (GRCm39)		probably null	Het
Bub1	A	G	2: 127,646,800 (GRCm39)	F827L	possibly damaging	Het
Cfap68	T	C	9: 50,675,227 (GRCm39)	T67A	probably benign	Het
Cyp2c55	A	G	19: 39,023,990 (GRCm39)	I355V	probably benign	Het
Dido1	A	G	2: 180,313,696 (GRCm39)	S319P	probably damaging	Het
Efna5	A	T	17: 63,188,025 (GRCm39)	V34D	probably damaging	Het
Fam131a	G	T	16: 20,518,389 (GRCm39)	E88D	probably damaging	Het
Fsip2	A	T	2: 82,817,838 (GRCm39)	R4524*	probably null	Het
Gm6899	C	T	11: 26,543,484 (GRCm39)		probably benign	Het
Iqcg	C	T	16: 32,839,878 (GRCm39)	R356Q	probably damaging	Het
Itgae	T	A	11: 73,036,377 (GRCm39)	I1105N	possibly damaging	Het
Klb	T	C	5: 65,537,292 (GRCm39)	I874T	possibly damaging	Het
Klc3	T	C	7: 19,130,256 (GRCm39)	Y307C	probably damaging	Het
Lrp1b	T	A	2: 41,231,771 (GRCm39)	H378L	probably benign	Het
Mxd4	G	A	5: 34,335,044 (GRCm39)	R114C	probably damaging	Het
Nrdc	A	T	4: 108,895,242 (GRCm39)	R241*	probably null	Het
Ofcc1	G	A	13: 40,433,905 (GRCm39)	H67Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,379 (GRCm39)	T134A	possibly damaging	Het
Or5p5	A	G	7: 107,413,844 (GRCm39)	T18A	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Pard3b	G	T	1: 62,049,625 (GRCm39)	A128S	probably benign	Het
Plat	T	C	8: 23,263,664 (GRCm39)	Y188H	probably benign	Het
Pop1	A	G	15: 34,530,325 (GRCm39)	K908E	possibly damaging	Het
Pten	A	G	19: 32,735,866 (GRCm39)	I8V	probably benign	Het
Pwwp2a	C	T	11: 43,596,968 (GRCm39)	A436V	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sdk1	T	C	5: 142,173,900 (GRCm39)	C2023R	possibly damaging	Het
Serpina1d	A	C	12: 103,730,101 (GRCm39)	D360E	possibly damaging	Het
Serpinb9b	A	G	13: 33,223,582 (GRCm39)	D258G	probably benign	Het
Smgc	G	A	15: 91,726,108 (GRCm39)	S18N	possibly damaging	Het
Snx27	A	T	3: 94,410,157 (GRCm39)		probably null	Het
Spem1	T	G	11: 69,712,263 (GRCm39)	K134Q	probably damaging	Het
Tanc1	T	C	2: 59,602,697 (GRCm39)	C163R	possibly damaging	Het
Ube2ql1	A	T	13: 69,887,446 (GRCm39)	L5H	unknown	Het
Ubn2	T	C	6: 38,438,462 (GRCm39)	I225T	probably damaging	Het
Vmn1r181	A	C	7: 23,683,741 (GRCm39)	T69P	probably damaging	Het
Vmn2r110	A	G	17: 20,816,494 (GRCm39)	F10L	probably benign	Het
Yeats2	T	C	16: 19,980,779 (GRCm39)	M236T	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
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
R8365:Srgap3	UTSW	6	112,793,695 (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'- TAAACCGAAGAGGCCTCTAGC -3'
(R):5'- TCCCCAAGTGCTGTGATTTGG -3'

Sequencing Primer
(F):5'- AACCTTCTGGATGGTGCAAC -3'
(R):5'- CTGTGATTTGGGCTTTCACGC -3'

Posted On

2016-11-09