Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Srgap3'

271678

Institutional Source

Beutler Lab

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

Arhgap14, D130026O08Rik

MMRRC Submission

040613-MU

Accession Numbers

Essential gene?

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

Stock #

R3162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112694932-112924227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112706619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 826 (V826A)

Ref Sequence

ENSEMBL: ENSMUSP00000108794 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088373
AA Change: V850A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: V850A

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: V826A

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

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: V826A

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

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or13c7b	T	A	4: 43,820,544 (GRCm39)	K272N	probably benign	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	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
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

Predicted Primers

PCR Primer
(F):5'- AGAATCTTTGGGTCCTTCCAG -3'
(R):5'- TGAAGGAGTTCTGGGCATCC -3'

Sequencing Primer
(F):5'- TTGGGTCCTTCCAGCCAGC -3'
(R):5'- GTCCTTCCTCAAGAGCATGAG -3'

Posted On

2015-03-25