Mutagenetix > Incidental Mutation

Incidental Mutation 'R4887:Srgap3'

376967

Institutional Source

Beutler Lab

Gene Symbol

Srgap3

Ensembl Gene

ENSMUSG00000030257

Gene Name

SLIT-ROBO Rho GTPase activating protein 3

Synonyms

D130026O08Rik, Arhgap14

MMRRC Submission

041979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R4887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112717971-112947266 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112746934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 546 (S546P)

Ref Sequence

ENSEMBL: ENSMUSP00000085712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088373] [ENSMUST00000113169] [ENSMUST00000131835]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088373
AA Change: S546P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085712
Gene: ENSMUSG00000030257
AA Change: S546P

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: S522P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108794
Gene: ENSMUSG00000030257
AA Change: S522P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131835

SMART Domains

Protein: ENSMUSP00000130063
Gene: ENSMUSG00000030257

Domain	Start	End	E-Value	Type
Blast:RhoGAP	1	33	2e-14	BLAST
transmembrane domain	69	91	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,324	I22F	possibly damaging	Het
2310009B15Rik	A	C	1: 138,852,165	Y116*	probably null	Het
4930548H24Rik	A	G	5: 31,486,252	I109V	probably benign	Het
Acer3	T	C	7: 98,257,701	T91A	possibly damaging	Het
Adam12	T	C	7: 134,172,821	K20E	possibly damaging	Het
Adamtsl3	T	C	7: 82,574,614	V275A	possibly damaging	Het
Afg1l	C	T	10: 42,454,378	V98I	probably benign	Het
Alpk1	C	T	3: 127,673,475	G1052R	probably damaging	Het
Anln	A	T	9: 22,380,188	S115T	possibly damaging	Het
Apob	T	A	12: 8,013,099	N3827K	probably damaging	Het
Aqr	G	A	2: 114,150,509	L264F	probably damaging	Het
Arhgap33	T	C	7: 30,532,192	S123G	probably damaging	Het
Arvcf	C	T	16: 18,398,113	R333*	probably null	Het
Brca2	T	A	5: 150,556,937	L2724Q	probably damaging	Het
Btbd11	C	T	10: 85,387,378	T17M	unknown	Het
C2cd6	T	A	1: 59,094,734	T43S	probably benign	Het
Cacna1h	A	G	17: 25,377,287	V1920A	possibly damaging	Het
Capsl	A	T	15: 9,457,772	I26F	possibly damaging	Het
Card10	A	T	15: 78,781,524	V673E	possibly damaging	Het
Ccar1	A	G	10: 62,753,218	S829P	unknown	Het
Cdc42bpa	T	C	1: 180,144,635	M1334T	possibly damaging	Het
Ceacam2	C	T	7: 25,520,832	C267Y	probably benign	Het
Cep68	G	A	11: 20,239,239	T591M	probably benign	Het
Chil4	T	C	3: 106,204,144	K218R	probably benign	Het
Cldn14	G	T	16: 93,919,859	T33K	possibly damaging	Het
Copa	T	A	1: 172,092,276	C140S	probably benign	Het
Coq6	T	C	12: 84,372,296	L358P	probably damaging	Het
Cyfip1	C	T	7: 55,872,068	P40L	probably damaging	Het
Dennd2a	A	C	6: 39,497,159	S414A	probably benign	Het
Dpm1	T	C	2: 168,217,759	N139S	probably benign	Het
Dpp7	T	A	2: 25,352,758		probably null	Het
Ednrb	T	C	14: 103,820,011	I372V	possibly damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Fam135a	G	A	1: 24,024,253	Q1087*	probably null	Het
Fancg	T	C	4: 43,006,866	T275A	probably benign	Het
Fbn1	T	A	2: 125,309,774	H2520L	probably damaging	Het
Fmn2	T	C	1: 174,581,961	S587P	unknown	Het
Foxr2	A	G	X: 153,130,316	Q61R	probably damaging	Het
Frrs1	A	G	3: 116,902,416	*124W	probably null	Het
Gm16432	A	G	1: 178,103,949	Y478C	unknown	Het
Gm7535	T	A	17: 17,911,071		probably benign	Het
Gm884	T	C	11: 103,614,872	H2090R	probably benign	Het
Gm996	G	A	2: 25,579,747	R51C	possibly damaging	Het
Herc3	T	C	6: 58,887,499	V706A	probably damaging	Het
Hist1h4a	T	C	13: 23,760,952	D69G	probably damaging	Het
Hivep3	A	G	4: 120,122,934	E1723G	probably damaging	Het
Igsf9b	A	G	9: 27,322,650	I382V	probably benign	Het
Ints1	G	T	5: 139,771,156	T467N	possibly damaging	Het
Iqca	G	A	1: 90,045,701	T783M	probably damaging	Het
Kng1	A	G	16: 23,067,698	K131R	possibly damaging	Het
Krt35	T	C	11: 100,093,130	Y348C	probably damaging	Het
Ldlrad3	A	G	2: 102,113,536	C64R	probably damaging	Het
Lilr4b	C	T	10: 51,484,520	A272V	possibly damaging	Het
Ltn1	A	T	16: 87,398,809	C1276*	probably null	Het
Matn1	G	A	4: 130,952,114	A360T	probably benign	Het
Minpp1	G	A	19: 32,498,384	V306I	probably benign	Het
Mkx	G	A	18: 6,992,904	R127W	probably damaging	Het
Mrpl48	G	T	7: 100,546,409		probably benign	Het
Ms4a2	A	G	19: 11,618,429	L166S	possibly damaging	Het
Mtus2	T	A	5: 148,077,103	Y235*	probably null	Het
Myh4	G	T	11: 67,241,054	W113C	probably damaging	Het
Nav2	T	A	7: 49,548,434	C1270*	probably null	Het
Ncoa5	A	G	2: 165,002,150	L111P	probably damaging	Het
Nup107	T	C	10: 117,770,478	Y453C	probably damaging	Het
Oca2	C	T	7: 56,330,358	Q604*	probably null	Het
Olfr116	A	T	17: 37,623,891	V248D	probably damaging	Het
Olfr1339	A	C	4: 118,734,688	H53P	probably benign	Het
Olfr482	T	A	7: 108,095,096	N158I	probably benign	Het
Olfr525	T	C	7: 140,323,101	M134T	probably benign	Het
Olfr952	T	C	9: 39,426,235	T279A	possibly damaging	Het
Pde3a	G	T	6: 141,470,942	G514V	possibly damaging	Het
Pik3cb	A	T	9: 99,101,328	C76S	probably damaging	Het
Plk1	T	C	7: 122,168,605	V411A	probably damaging	Het
Pole	C	T	5: 110,324,753	P1600L	probably damaging	Het
Prr36	T	C	8: 4,210,881	T979A	probably benign	Het
Rdh7	T	A	10: 127,885,721	T229S	probably benign	Het
Rnpepl1	A	T	1: 92,915,113	T140S	probably damaging	Het
Rps6kc1	A	T	1: 190,798,694	S947T	probably benign	Het
Rtl1	A	G	12: 109,591,704	F1234L	probably damaging	Het
Sdc1	G	A	12: 8,791,708	M279I	probably damaging	Het
Siae	T	C	9: 37,627,800	L169P	possibly damaging	Het
Slc22a22	C	T	15: 57,249,752	V364I	probably benign	Het
Sltm	G	T	9: 70,588,978	V932F	probably damaging	Het
Smad1	A	G	8: 79,349,752	L279P	probably damaging	Het
Spag17	G	T	3: 100,050,831	G935V	probably damaging	Het
Stxbp5	T	C	10: 9,809,100	I519V	probably benign	Het
Syt16	A	T	12: 74,129,386	I10F	probably damaging	Het
Trim43b	C	G	9: 89,091,312	G123R	probably damaging	Het
Ubr3	T	C	2: 70,013,131	Y1572H	probably damaging	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Vmn2r44	A	T	7: 8,377,986	W303R	probably benign	Het
Wdr93	T	C	7: 79,785,774	Y684H	probably damaging	Het
Wnk2	G	A	13: 49,071,002	R268C	probably damaging	Het
Zfp438	C	T	18: 5,213,776	C394Y	possibly damaging	Het

Other mutations in Srgap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Srgap3	APN	6	112739397	missense	probably damaging	0.98
IGL01325:Srgap3	APN	6	112775686	missense	probably damaging	1.00
IGL01608:Srgap3	APN	6	112946478	missense	probably benign	0.00
IGL01626:Srgap3	APN	6	112773648	missense	probably damaging	0.98
IGL01787:Srgap3	APN	6	112723022	missense	probably benign	0.00
IGL02698:Srgap3	APN	6	112746928	missense	probably damaging	0.98
IGL02805:Srgap3	APN	6	112727263	missense	probably damaging	0.99
IGL02813:Srgap3	APN	6	112731480	missense	probably damaging	1.00
IGL02876:Srgap3	APN	6	112771453	missense	probably damaging	1.00
IGL03264:Srgap3	APN	6	112816675	missense	probably damaging	1.00
IGL03342:Srgap3	APN	6	112775687	missense	probably damaging	1.00
R0007:Srgap3	UTSW	6	112829512	missense	probably damaging	1.00
R0371:Srgap3	UTSW	6	112771471	missense	probably damaging	0.99
R0607:Srgap3	UTSW	6	112723119	missense	probably damaging	1.00
R1628:Srgap3	UTSW	6	112739370	missense	probably damaging	0.99
R1669:Srgap3	UTSW	6	112722904	missense	probably benign	0.36
R1858:Srgap3	UTSW	6	112771518	missense	probably damaging	1.00
R1876:Srgap3	UTSW	6	112775566	missense	probably damaging	0.98
R1896:Srgap3	UTSW	6	112738997	missense	probably benign	0.11
R2159:Srgap3	UTSW	6	112771378	missense	probably damaging	0.99
R2221:Srgap3	UTSW	6	112946493	missense	probably damaging	0.98
R2862:Srgap3	UTSW	6	112722972	missense	probably damaging	0.99
R3160:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R3162:Srgap3	UTSW	6	112729658	missense	probably benign	0.00
R4092:Srgap3	UTSW	6	112723084	missense	probably benign	0.00
R4561:Srgap3	UTSW	6	112781054	missense	probably damaging	0.98
R4781:Srgap3	UTSW	6	112757425	intron	probably benign
R4825:Srgap3	UTSW	6	112727310	missense	probably benign
R5304:Srgap3	UTSW	6	112766939	missense	probably damaging	1.00
R5556:Srgap3	UTSW	6	112739078	missense	probably damaging	0.99
R5672:Srgap3	UTSW	6	112775561	missense	probably benign
R5879:Srgap3	UTSW	6	112722846	missense	possibly damaging	0.67
R5944:Srgap3	UTSW	6	112795814	missense	possibly damaging	0.89
R6277:Srgap3	UTSW	6	112739383	missense	probably benign	0.02
R6298:Srgap3	UTSW	6	112816610	missense	probably damaging	0.98
R6407:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6408:Srgap3	UTSW	6	112723006	missense	probably damaging	0.99
R6797:Srgap3	UTSW	6	112829542	missense	probably damaging	1.00
R6852:Srgap3	UTSW	6	112816661	missense	probably damaging	1.00
R6965:Srgap3	UTSW	6	112723129	missense	probably damaging	1.00
R7055:Srgap3	UTSW	6	112746963	missense	probably damaging	0.97
R7067:Srgap3	UTSW	6	112757305	intron	probably benign
R7361:Srgap3	UTSW	6	112746921	missense	probably damaging	0.99
R7479:Srgap3	UTSW	6	112735833	critical splice donor site	probably null
R7606:Srgap3	UTSW	6	112739376	missense	probably benign	0.00
R7731:Srgap3	UTSW	6	112766897	missense	probably benign	0.36
R7787:Srgap3	UTSW	6	112775559	missense	probably benign	0.02
R7934:Srgap3	UTSW	6	112731489	missense	probably damaging	1.00
R8026:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8040:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8066:Srgap3	UTSW	6	112771378	missense	probably damaging	0.99
R8067:Srgap3	UTSW	6	112739364	missense	probably benign	0.00
R8090:Srgap3	UTSW	6	112781035	nonsense	probably null
R8151:Srgap3	UTSW	6	112816667	missense	probably damaging	1.00
R8248:Srgap3	UTSW	6	112723143	missense	probably damaging	1.00
R8365:Srgap3	UTSW	6	112816734	missense	probably damaging	1.00
R8369:Srgap3	UTSW	6	112722818	missense	probably benign
R8444:Srgap3	UTSW	6	112775548	missense	possibly damaging	0.56
R8509:Srgap3	UTSW	6	112731336	nonsense	probably null
R8772:Srgap3	UTSW	6	112766945	missense	probably damaging	1.00
R8827:Srgap3	UTSW	6	112739341	missense	probably damaging	1.00
R8881:Srgap3	UTSW	6	112723137	missense	probably benign
R9002:Srgap3	UTSW	6	112780893	missense	possibly damaging	0.76
R9041:Srgap3	UTSW	6	112777093	missense	probably damaging	0.99
R9198:Srgap3	UTSW	6	112766904	missense	probably damaging	1.00
R9404:Srgap3	UTSW	6	112729655	missense	probably benign	0.04
R9616:Srgap3	UTSW	6	112771563	missense	probably damaging	1.00
X0062:Srgap3	UTSW	6	112795786	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATTAGGAACATTTAGCCTGTG -3'
(R):5'- AGGAGCTTGTCACCAGGAAC -3'

Sequencing Primer
(F):5'- CAGCTACCATCAGGATGTCTTGG -3'
(R):5'- GAGCTTGTCACCAGGAACAACTG -3'

Posted On

2016-03-17