Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Arhgap12'

55350

Institutional Source

Beutler Lab

Gene Symbol

Arhgap12

Ensembl Gene

ENSMUSG00000041225

Gene Name

Rho GTPase activating protein 12

Synonyms

2810011M08Rik

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0600 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

6024448-6136102 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 6064433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8C0D4

Predicted Effect

probably benign
Transcript: ENSMUST00000062584

SMART Domains

Protein: ENSMUSP00000054209
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
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

probably benign
Transcript: ENSMUST00000077128

SMART Domains

Protein: ENSMUSP00000076376
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
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

probably benign
Transcript: ENSMUST00000182066

SMART Domains

Protein: ENSMUSP00000138496
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	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

probably benign
Transcript: ENSMUST00000182213

SMART Domains

Protein: ENSMUSP00000138464
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
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

probably benign
Transcript: ENSMUST00000182559

SMART Domains

Protein: ENSMUSP00000138585
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
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: ENSMUST00000182383

SMART Domains

Protein: ENSMUSP00000138444
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	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

noncoding transcript
Transcript: ENSMUST00000182322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182572

Predicted Effect

probably benign
Transcript: ENSMUST00000182921

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably damaging	Het

Other mutations in Arhgap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Arhgap12	APN	18	6,057,576 (GRCm39)	missense	probably benign	0.01
IGL01652:Arhgap12	APN	18	6,061,853 (GRCm39)	missense	possibly damaging	0.89
IGL01886:Arhgap12	APN	18	6,027,613 (GRCm39)	missense	probably damaging	1.00
IGL02716:Arhgap12	APN	18	6,111,857 (GRCm39)	missense	possibly damaging	0.95
IGL03195:Arhgap12	APN	18	6,031,766 (GRCm39)	missense	probably damaging	1.00
eelier	UTSW	18	6,061,930 (GRCm39)	missense	possibly damaging	0.80
eerie	UTSW	18	6,111,734 (GRCm39)	missense	probably damaging	1.00
IGL03134:Arhgap12	UTSW	18	6,111,936 (GRCm39)	missense	probably benign	0.22
R0312:Arhgap12	UTSW	18	6,061,982 (GRCm39)	intron	probably benign
R0330:Arhgap12	UTSW	18	6,039,382 (GRCm39)	missense	probably damaging	1.00
R0891:Arhgap12	UTSW	18	6,026,699 (GRCm39)	missense	probably damaging	1.00
R1123:Arhgap12	UTSW	18	6,031,822 (GRCm39)	missense	probably damaging	1.00
R1395:Arhgap12	UTSW	18	6,037,058 (GRCm39)	missense	probably benign	0.20
R1644:Arhgap12	UTSW	18	6,112,340 (GRCm39)	missense	probably benign	0.00
R2968:Arhgap12	UTSW	18	6,111,732 (GRCm39)	missense	probably damaging	1.00
R2970:Arhgap12	UTSW	18	6,111,732 (GRCm39)	missense	probably damaging	1.00
R3809:Arhgap12	UTSW	18	6,037,057 (GRCm39)	missense	probably benign	0.36
R3824:Arhgap12	UTSW	18	6,061,930 (GRCm39)	missense	possibly damaging	0.80
R4181:Arhgap12	UTSW	18	6,111,734 (GRCm39)	missense	probably damaging	1.00
R4182:Arhgap12	UTSW	18	6,111,734 (GRCm39)	missense	probably damaging	1.00
R4183:Arhgap12	UTSW	18	6,111,734 (GRCm39)	missense	probably damaging	1.00
R4497:Arhgap12	UTSW	18	6,111,774 (GRCm39)	missense	probably damaging	1.00
R4498:Arhgap12	UTSW	18	6,111,774 (GRCm39)	missense	probably damaging	1.00
R5456:Arhgap12	UTSW	18	6,112,170 (GRCm39)	nonsense	probably null
R5539:Arhgap12	UTSW	18	6,111,932 (GRCm39)	missense	probably benign	0.00
R5915:Arhgap12	UTSW	18	6,037,016 (GRCm39)	critical splice donor site	probably null
R6859:Arhgap12	UTSW	18	6,111,803 (GRCm39)	missense	probably damaging	1.00
R6960:Arhgap12	UTSW	18	6,111,901 (GRCm39)	missense	probably damaging	1.00
R7114:Arhgap12	UTSW	18	6,028,056 (GRCm39)	missense	probably damaging	1.00
R7285:Arhgap12	UTSW	18	6,111,920 (GRCm39)	missense	probably damaging	1.00
R7359:Arhgap12	UTSW	18	6,065,709 (GRCm39)	missense	possibly damaging	0.92
R8048:Arhgap12	UTSW	18	6,052,883 (GRCm39)	missense	probably benign	0.02
R8249:Arhgap12	UTSW	18	6,027,635 (GRCm39)	missense	probably damaging	1.00
R8523:Arhgap12	UTSW	18	6,111,976 (GRCm39)	missense	probably benign	0.12
R9110:Arhgap12	UTSW	18	6,034,539 (GRCm39)	missense	possibly damaging	0.94
R9444:Arhgap12	UTSW	18	6,052,909 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTAGGGAACCACGGGGTTGC -3'
(R):5'- TGTTCTCAGGATGTTTTAGACACTCTGC -3'

Sequencing Primer
(F):5'- cctggtctacatggggaac -3'
(R):5'- GGATGTTTTAGACACTCTGCTATACC -3'

Posted On

2013-07-11