Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Arhgap12'

275309

Institutional Source

Beutler Lab

Gene Symbol

Arhgap12

Ensembl Gene

ENSMUSG00000041225

Gene Name

Rho GTPase activating protein 12

Synonyms

2810011M08Rik

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6024427-6136098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6061930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 402 (R402G)

Ref Sequence

ENSEMBL: ENSMUSP00000138585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062584] [ENSMUST00000077128] [ENSMUST00000182038] [ENSMUST00000182066] [ENSMUST00000182213] [ENSMUST00000182383] [ENSMUST00000182559]

AlphaFold

Q8C0D4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062584
AA Change: R355G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: R355G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	356	388	1.06e1	SMART
PH	456	569	9.56e-11	SMART
low complexity region	571	580	N/A	INTRINSIC
low complexity region	588	602	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
RhoGAP	659	833	5.47e-64	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077128
AA Change: R402G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: R402G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	356	388	1.06e1	SMART
PH	431	544	9.56e-11	SMART
low complexity region	546	555	N/A	INTRINSIC
low complexity region	563	577	N/A	INTRINSIC
low complexity region	591	602	N/A	INTRINSIC
RhoGAP	634	808	5.47e-64	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181989

Predicted Effect

probably benign
Transcript: ENSMUST00000182038

SMART Domains

Protein: ENSMUSP00000138150
Gene: ENSMUSG00000041225

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	356	388	1.06e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182066
AA Change: R355G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: R355G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	309	341	5.5e0	SMART
PH	409	522	9.56e-11	SMART
low complexity region	524	533	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
RhoGAP	612	786	5.47e-64	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182178

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182213
AA Change: R402G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: R402G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	356	388	1.06e1	SMART
PH	461	574	9.56e-11	SMART
low complexity region	576	585	N/A	INTRINSIC
low complexity region	593	607	N/A	INTRINSIC
low complexity region	621	632	N/A	INTRINSIC
RhoGAP	664	838	5.47e-64	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182322

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182383
AA Change: R355G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: R355G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	309	341	5.5e0	SMART
PH	384	497	9.56e-11	SMART
low complexity region	499	508	N/A	INTRINSIC
low complexity region	516	530	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC
RhoGAP	587	761	5.47e-64	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182559
AA Change: R402G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: R402G

Domain	Start	End	E-Value	Type
SH3	13	71	1.53e-3	SMART
low complexity region	208	224	N/A	INTRINSIC
WW	264	296	3.39e-6	SMART
WW	356	388	1.06e1	SMART
PH	456	569	9.56e-11	SMART
low complexity region	571	580	N/A	INTRINSIC
low complexity region	588	602	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
RhoGAP	659	833	5.47e-64	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182614

Predicted Effect

probably benign
Transcript: ENSMUST00000182921

Meta Mutation Damage Score

0.1727

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: A null gene trap mutation resulted in no notable phenotype in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Arhgap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Arhgap12	APN	18	6057576	missense	probably benign	0.01
IGL01652:Arhgap12	APN	18	6061853	missense	possibly damaging	0.89
IGL01886:Arhgap12	APN	18	6027613	missense	probably damaging	1.00
IGL02716:Arhgap12	APN	18	6111857	missense	possibly damaging	0.95
IGL03195:Arhgap12	APN	18	6031766	missense	probably damaging	1.00
eelier	UTSW	18	6061930	missense	possibly damaging	0.80
eerie	UTSW	18	6111734	missense	probably damaging	1.00
IGL03134:Arhgap12	UTSW	18	6111936	missense	probably benign	0.22
R0312:Arhgap12	UTSW	18	6061982	intron	probably benign
R0330:Arhgap12	UTSW	18	6039382	missense	probably damaging	1.00
R0600:Arhgap12	UTSW	18	6064433	intron	probably benign
R0891:Arhgap12	UTSW	18	6026699	missense	probably damaging	1.00
R1123:Arhgap12	UTSW	18	6031822	missense	probably damaging	1.00
R1395:Arhgap12	UTSW	18	6037058	missense	probably benign	0.20
R1644:Arhgap12	UTSW	18	6112340	missense	probably benign	0.00
R2968:Arhgap12	UTSW	18	6111732	missense	probably damaging	1.00
R2970:Arhgap12	UTSW	18	6111732	missense	probably damaging	1.00
R3809:Arhgap12	UTSW	18	6037057	missense	probably benign	0.36
R4181:Arhgap12	UTSW	18	6111734	missense	probably damaging	1.00
R4182:Arhgap12	UTSW	18	6111734	missense	probably damaging	1.00
R4183:Arhgap12	UTSW	18	6111734	missense	probably damaging	1.00
R4497:Arhgap12	UTSW	18	6111774	missense	probably damaging	1.00
R4498:Arhgap12	UTSW	18	6111774	missense	probably damaging	1.00
R5456:Arhgap12	UTSW	18	6112170	nonsense	probably null
R5539:Arhgap12	UTSW	18	6111932	missense	probably benign	0.00
R5915:Arhgap12	UTSW	18	6037016	critical splice donor site	probably null
R6859:Arhgap12	UTSW	18	6111803	missense	probably damaging	1.00
R6960:Arhgap12	UTSW	18	6111901	missense	probably damaging	1.00
R7114:Arhgap12	UTSW	18	6028056	missense	probably damaging	1.00
R7285:Arhgap12	UTSW	18	6111920	missense	probably damaging	1.00
R7359:Arhgap12	UTSW	18	6065709	missense	possibly damaging	0.92
R8048:Arhgap12	UTSW	18	6052883	missense	probably benign	0.02
R8249:Arhgap12	UTSW	18	6027635	missense	probably damaging	1.00
R8523:Arhgap12	UTSW	18	6111976	missense	probably benign	0.12
R9110:Arhgap12	UTSW	18	6034539	missense	possibly damaging	0.94
R9444:Arhgap12	UTSW	18	6052909	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGCCAACATTATTTTGTACTTGCTC -3'
(R):5'- CTGCTCAGGAAGAAGGCTGAC -3'

Sequencing Primer
(F):5'- TTCCCAAGCACTTGCCA -3'
(R):5'- CTGACATGAGACAGCTCTTGG -3'

Posted On

2015-04-02