Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02813:Srgap3'

360676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

Arhgap14, D130026O08Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02813

Quality Score

Status

Chromosome

Chromosomal Location

112694932-112924227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112708441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 753 (F753L)

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: F753L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: F753L

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: F729L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: F729L

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	A	11: 7,096,591 (GRCm39)	Q660K	possibly damaging	Het
Arhgap5	A	C	12: 52,563,748 (GRCm39)	T240P	probably benign	Het
Arhgef7	C	T	8: 11,850,767 (GRCm39)		probably benign	Het
Cttnbp2	C	A	6: 18,367,537 (GRCm39)	V1594F	possibly damaging	Het
Cyp2a22	G	T	7: 26,635,859 (GRCm39)	Q235K	probably benign	Het
Dennd11	C	T	6: 40,395,473 (GRCm39)	V212I	probably benign	Het
Dynlt5	A	G	4: 102,849,769 (GRCm39)	N64S	probably damaging	Het
Ecm1	G	A	3: 95,644,098 (GRCm39)	P169S	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Ern1	T	C	11: 106,314,251 (GRCm39)	D183G	probably damaging	Het
Gpat2	T	C	2: 127,276,375 (GRCm39)	V635A	possibly damaging	Het
Gria1	A	G	11: 57,174,410 (GRCm39)	N564S	probably damaging	Het
Grtp1	A	C	8: 13,236,945 (GRCm39)	I173S	possibly damaging	Het
Hsd17b4	A	G	18: 50,261,415 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,569,229 (GRCm39)		probably null	Het
Mark4	A	T	7: 19,181,181 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,453,691 (GRCm39)	D207G	probably benign	Het
Mrgprd	A	G	7: 144,875,251 (GRCm39)	M41V	probably benign	Het
Myo1g	T	C	11: 6,468,743 (GRCm39)	*66W	probably null	Het
Neto2	C	A	8: 86,417,515 (GRCm39)	D30Y	probably benign	Het
Nlrp6	A	T	7: 140,503,333 (GRCm39)	I450F	possibly damaging	Het
Nup155	T	A	15: 8,159,605 (GRCm39)		probably benign	Het
Or4c11c	A	G	2: 88,661,495 (GRCm39)	I11M	probably benign	Het
Pcdhb10	T	G	18: 37,546,815 (GRCm39)	S630R	possibly damaging	Het
Rwdd4a	T	C	8: 47,990,396 (GRCm39)		probably null	Het
Slc12a7	T	A	13: 73,961,795 (GRCm39)		probably benign	Het
Slc22a20	C	T	19: 6,034,886 (GRCm39)	V192I	probably benign	Het
Slc9a2	T	A	1: 40,781,829 (GRCm39)	S353T	probably damaging	Het
Tcea1	C	T	1: 4,956,979 (GRCm39)	T93I	probably benign	Het
Tecpr2	A	T	12: 110,899,626 (GRCm39)	S665C	probably damaging	Het
Tor4a	C	A	2: 25,084,761 (GRCm39)	E381*	probably null	Het
Vdr	A	G	15: 97,767,562 (GRCm39)	Y143H	probably benign	Het
Vmn2r91	A	C	17: 18,356,348 (GRCm39)	T672P	possibly damaging	Het
Wdr41	A	G	13: 95,131,753 (GRCm39)		probably null	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
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
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

Posted On

2015-12-18