Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Srgap1'

499925

Institutional Source

Beutler Lab

Gene Symbol

Srgap1

Ensembl Gene

ENSMUSG00000020121

Gene Name

SLIT-ROBO Rho GTPase activating protein 1

Synonyms

Arhgap13, 4930572H05Rik

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121780991-122047315 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121825636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 533 (Y533C)

Ref Sequence

ENSEMBL: ENSMUSP00000080389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020322] [ENSMUST00000081688] [ENSMUST00000161156]

AlphaFold

Q91Z69

Predicted Effect

probably damaging
Transcript: ENSMUST00000020322
AA Change: Y510C

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

SMART Domains

Protein: ENSMUSP00000020322
Gene: ENSMUSG00000020121
AA Change: Y510C

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	494	668	1.27e-64	SMART
SH3	723	778	1.57e-14	SMART
low complexity region	826	840	N/A	INTRINSIC
low complexity region	1004	1014	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081688
AA Change: Y533C

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

SMART Domains

Protein: ENSMUSP00000080389
Gene: ENSMUSG00000020121
AA Change: Y533C

Domain	Start	End	E-Value	Type
FCH	22	121	3.81e-16	SMART
low complexity region	173	193	N/A	INTRINSIC
coiled coil region	352	382	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
RhoGAP	517	691	1.27e-64	SMART
SH3	746	801	1.57e-14	SMART
low complexity region	849	863	N/A	INTRINSIC
low complexity region	1027	1037	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161156

SMART Domains

Protein: ENSMUSP00000125109
Gene: ENSMUSG00000020121

Domain	Start	End	E-Value	Type
Pfam:RhoGAP	1	68	2.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218664

Meta Mutation Damage Score

0.3487

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,325,971	D1292V	probably benign	Het
Adcy2	A	T	13: 68,642,569	V892D	probably damaging	Het
Adcy2	A	T	13: 68,620,819	C1063*	probably null	Het
Agtpbp1	T	C	13: 59,500,515	D497G	probably benign	Het
Anks1b	A	C	10: 90,914,711	I195L	probably benign	Het
Asmt	G	T	X: 170,678,016	S377I	unknown	Het
C1s1	T	A	6: 124,540,950	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,392,854		probably benign	Het
Ccndbp1	T	C	2: 121,014,702		probably benign	Het
Cct8	T	C	16: 87,488,821	I250V	probably benign	Het
Cmya5	T	C	13: 93,098,176	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,217,103		probably benign	Het
Crybg3	A	G	16: 59,559,166	M575T	probably benign	Het
Dmp1	C	T	5: 104,207,086		probably benign	Het
Emc1	G	T	4: 139,375,380	R950L	probably damaging	Het
Enpep	T	C	3: 129,299,094		probably null	Het
Eya1	G	A	1: 14,183,252	T500I	probably damaging	Het
Fam169a	T	C	13: 97,093,618	F54L	probably damaging	Het
Fbxo8	A	G	8: 56,591,517	K285R	probably damaging	Het
Galnt1	A	T	18: 24,272,750	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,233		probably null	Het
Gm10800	T	A	2: 98,666,620	Y196F	probably benign	Het
Gmpr	T	A	13: 45,539,020		probably null	Het
Jrkl	C	T	9: 13,244,382	E425K	probably benign	Het
Kl	T	G	5: 150,988,466	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,734,582	R356S	probably null	Het
Lrig2	C	T	3: 104,464,072		probably null	Het
Lrrc47	A	G	4: 154,015,683	T239A	probably benign	Het
Map4k2	T	C	19: 6,345,642		probably benign	Het
Mon2	A	G	10: 123,008,239	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,990,002		probably null	Het
Mvk	G	T	5: 114,450,765	G144V	probably damaging	Het
Nasp	T	A	4: 116,605,805		probably benign	Het
Ndst4	A	C	3: 125,438,609	N276H	possibly damaging	Het
Nsmf	C	T	2: 25,056,067	P189S	probably damaging	Het
Nt5m	T	G	11: 59,852,823	D92E	probably benign	Het
Olfr1198	A	T	2: 88,746,750	I46N	probably damaging	Het
Olfr1285	T	C	2: 111,408,688		noncoding transcript	Het
Olfr981	T	G	9: 40,022,435	L14R	probably damaging	Het
Pan3	T	A	5: 147,455,172	I119N	probably damaging	Het
Pard6b	A	T	2: 168,098,626	S178C	probably damaging	Het
Parl	A	G	16: 20,287,978		probably benign	Het
Pdk2	A	G	11: 95,029,025		probably benign	Het
Prag1	A	G	8: 36,146,813	E1173G	probably benign	Het
Prph2	T	A	17: 46,923,465	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,693,669	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,105,707	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 88,806,484		noncoding transcript	Het
Rps8	G	C	4: 117,155,155		probably benign	Het
Samd4	A	G	14: 47,016,565	N61S	probably benign	Het
Sfrp2	G	A	3: 83,766,839	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc6a13	A	G	6: 121,302,741	T25A	probably benign	Het
Sntg1	C	A	1: 8,463,443	R329L	possibly damaging	Het
Sorbs2	T	C	8: 45,775,632	F285L	probably damaging	Het
Speg	T	C	1: 75,419,129		probably null	Het
Supt5	C	A	7: 28,317,763	S668I	probably benign	Het
Taf6l	T	G	19: 8,773,312	I133L	probably benign	Het
Tcrg-C1	A	T	13: 19,216,559	I153F	unknown	Het
Thrap3	G	A	4: 126,180,486		probably benign	Het
Tmem115	A	G	9: 107,534,855	N126S	probably benign	Het
Tspoap1	T	A	11: 87,777,126	I1192N	probably damaging	Het
Vcan	T	C	13: 89,678,134	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,215,680	T224M	probably benign	Het
Zc3h13	A	T	14: 75,331,960	R1416*	probably null	Het
Zmynd12	T	A	4: 119,441,901	Y193N	probably damaging	Het

Other mutations in Srgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01964:Srgap1	APN	10	121804966	missense	possibly damaging	0.81
IGL02106:Srgap1	APN	10	121785693	missense	possibly damaging	0.95
IGL02927:Srgap1	APN	10	121855462	missense	probably damaging	0.99
IGL03088:Srgap1	APN	10	121825693	missense	possibly damaging	0.94
IGL03208:Srgap1	APN	10	121792266	missense	possibly damaging	0.89
IGL03251:Srgap1	APN	10	121804921	splice site	probably null
PIT1430001:Srgap1	UTSW	10	121896753	splice site	probably benign
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0052:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R0356:Srgap1	UTSW	10	121855536	splice site	probably null
R0361:Srgap1	UTSW	10	122047192	start codon destroyed	probably null	0.89
R0365:Srgap1	UTSW	10	121785705	missense	possibly damaging	0.80
R0675:Srgap1	UTSW	10	121792235	missense	probably damaging	1.00
R0801:Srgap1	UTSW	10	121807875	missense	probably damaging	0.96
R0815:Srgap1	UTSW	10	121785474	missense	probably damaging	0.99
R1034:Srgap1	UTSW	10	121785445	missense	possibly damaging	0.69
R1160:Srgap1	UTSW	10	121855477	missense	probably benign	0.01
R1454:Srgap1	UTSW	10	121896738	missense	probably damaging	0.99
R1624:Srgap1	UTSW	10	121855373	missense	probably benign	0.03
R1628:Srgap1	UTSW	10	121870339	missense	probably benign	0.15
R1816:Srgap1	UTSW	10	121925971	nonsense	probably null
R1933:Srgap1	UTSW	10	121925903	missense	possibly damaging	0.89
R2034:Srgap1	UTSW	10	121792746	missense	probably damaging	0.98
R2211:Srgap1	UTSW	10	121853740	missense	possibly damaging	0.55
R2295:Srgap1	UTSW	10	121794760	missense	probably benign	0.03
R2368:Srgap1	UTSW	10	121829289	missense	probably benign	0.05
R3796:Srgap1	UTSW	10	122047132	missense	probably benign	0.06
R4083:Srgap1	UTSW	10	121785690	missense	probably damaging	1.00
R4172:Srgap1	UTSW	10	121855363	missense	probably benign	0.00
R4322:Srgap1	UTSW	10	121869806	missense	probably damaging	1.00
R4401:Srgap1	UTSW	10	121804921	splice site	probably null
R4513:Srgap1	UTSW	10	121870326	critical splice donor site	probably null
R4698:Srgap1	UTSW	10	121792487	missense	probably benign	0.22
R4776:Srgap1	UTSW	10	121792351	missense	probably benign	0.03
R4951:Srgap1	UTSW	10	121785552	missense	probably benign	0.20
R5116:Srgap1	UTSW	10	121792379	missense	possibly damaging	0.77
R5232:Srgap1	UTSW	10	121840911	missense	probably benign	0.00
R5237:Srgap1	UTSW	10	121807883	missense	probably damaging	1.00
R5335:Srgap1	UTSW	10	121785377	utr 3 prime	probably benign
R5402:Srgap1	UTSW	10	121785760	missense	probably benign	0.06
R5432:Srgap1	UTSW	10	121869823	missense	probably damaging	1.00
R5456:Srgap1	UTSW	10	121869811	missense	probably benign	0.45
R5669:Srgap1	UTSW	10	121804850	missense	probably benign	0.00
R5682:Srgap1	UTSW	10	121805014	missense	probably damaging	1.00
R5773:Srgap1	UTSW	10	121896709	missense	probably benign	0.02
R5832:Srgap1	UTSW	10	121840914	missense	probably damaging	1.00
R6028:Srgap1	UTSW	10	121828730	missense	probably null
R6240:Srgap1	UTSW	10	122047156	missense	probably benign	0.06
R6336:Srgap1	UTSW	10	121925941	missense	probably benign	0.01
R6435:Srgap1	UTSW	10	121800827	missense	possibly damaging	0.94
R6597:Srgap1	UTSW	10	121792371	missense	probably benign	0.11
R6798:Srgap1	UTSW	10	121925904	missense	probably damaging	1.00
R6807:Srgap1	UTSW	10	121828726	splice site	probably null
R6897:Srgap1	UTSW	10	121785618	missense	probably damaging	0.96
R7057:Srgap1	UTSW	10	121804953	missense	probably benign	0.20
R7196:Srgap1	UTSW	10	121840848	missense	probably benign	0.00
R7247:Srgap1	UTSW	10	121869790	missense	probably damaging	0.98
R7404:Srgap1	UTSW	10	121785745	missense	probably benign	0.18
R7467:Srgap1	UTSW	10	121855439	nonsense	probably null
R7792:Srgap1	UTSW	10	121925967	missense	probably damaging	0.98
R7846:Srgap1	UTSW	10	121785492	missense	probably damaging	0.97
R7896:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R7912:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R8127:Srgap1	UTSW	10	121855366	missense	probably null	0.04
R8233:Srgap1	UTSW	10	121825436	missense	probably damaging	1.00
R8248:Srgap1	UTSW	10	121804817	missense	probably damaging	0.99
R8362:Srgap1	UTSW	10	121855478	missense	possibly damaging	0.46
R8885:Srgap1	UTSW	10	121925640	intron	probably benign
R9074:Srgap1	UTSW	10	121792352	missense	probably damaging	0.99
R9134:Srgap1	UTSW	10	122047222	start gained	probably benign
R9338:Srgap1	UTSW	10	121853553	critical splice donor site	probably benign
R9437:Srgap1	UTSW	10	121800872	missense	probably benign	0.18
R9629:Srgap1	UTSW	10	121869841	missense	probably benign	0.06
R9747:Srgap1	UTSW	10	121792674	missense	probably benign
R9747:Srgap1	UTSW	10	121925866	missense	probably damaging	1.00
X0063:Srgap1	UTSW	10	121785412	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GACACTCTGAAAATCCCCTGG -3'
(R):5'- ACCACCTGGAGCCTTCTTATG -3'

Sequencing Primer
(F):5'- TCTGAAAATCCCCTGGTGCTGAAG -3'
(R):5'- CACCTGGAGCCTTCTTATGGTAAATG -3'

Posted On

2017-11-28