Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Arhgap12'

26014

Institutional Source

Beutler Lab

Gene Symbol

Arhgap12

Ensembl Gene

ENSMUSG00000041225

Gene Name

Rho GTPase activating protein 12

Synonyms

2810011M08Rik

MMRRC Submission

038539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6024448-6136102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6039382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 455 (D455V)

Ref Sequence

ENSEMBL: ENSMUSP00000138444 (fasta)

Gene Model

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

AlphaFold

Q8C0D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000062584
AA Change: D485V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: D485V

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 damaging
Transcript: ENSMUST00000077128
AA Change: D502V

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

SMART Domains

Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: D502V

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

probably damaging
Transcript: ENSMUST00000182066
AA Change: D480V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: D480V

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

probably damaging
Transcript: ENSMUST00000182213
AA Change: D532V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: D532V

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: ENSMUST00000182343

Predicted Effect

probably damaging
Transcript: ENSMUST00000182383
AA Change: D455V

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

SMART Domains

Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: D455V

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

probably damaging
Transcript: ENSMUST00000182559
AA Change: D527V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: D527V

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,038 (GRCm39)	N120S	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
AI661453	G	A	17: 47,757,571 (GRCm39)	R76Q	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Arhgef12	A	C	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,549,808 (GRCm39)	H592R	probably damaging	Het
BC049715	A	G	6: 136,817,035 (GRCm39)	T92A	possibly damaging	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Capn8	T	A	1: 182,457,703 (GRCm39)	I689N	probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cep57	G	A	9: 13,728,281 (GRCm39)	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Chd3	T	G	11: 69,247,159 (GRCm39)	D1003A	probably damaging	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,944,176 (GRCm39)	V3A	probably benign	Het
Col17a1	T	C	19: 47,658,871 (GRCm39)	T413A	probably benign	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fanca	A	T	8: 124,000,911 (GRCm39)	C1156*	probably null	Het
Flot2	T	A	11: 77,949,784 (GRCm39)	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,280,740 (GRCm39)	E518G	probably damaging	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Impg2	A	G	16: 56,072,627 (GRCm39)	Y353C	probably damaging	Het
Kank1	A	G	19: 25,401,677 (GRCm39)	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,648,569 (GRCm39)	C45Y	probably damaging	Het
Kif13b	A	G	14: 65,040,669 (GRCm39)	T1590A	probably benign	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrp1b	A	T	2: 40,591,773 (GRCm39)	C73*	probably null	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Med12l	A	G	3: 59,135,123 (GRCm39)	E757G	probably damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myof	A	C	19: 37,924,326 (GRCm39)	I1297S	probably damaging	Het
Nacad	A	G	11: 6,550,903 (GRCm39)	S763P	probably benign	Het
Nbea	A	G	3: 55,550,238 (GRCm39)	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Optn	A	T	2: 5,039,066 (GRCm39)	N352K	possibly damaging	Het
Or10k2	A	G	8: 84,268,142 (GRCm39)	Y123C	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7g16	A	G	9: 18,726,937 (GRCm39)	Y218H	probably damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Plaat5	T	A	19: 7,614,663 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,512,701 (GRCm39)	F1353Y	probably damaging	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pygo2	T	A	3: 89,340,461 (GRCm39)	N286K	possibly damaging	Het
Rttn	G	A	18: 89,004,204 (GRCm39)		probably null	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Sidt2	A	G	9: 45,866,200 (GRCm39)	I2T	probably benign	Het
Slc12a3	A	T	8: 95,072,974 (GRCm39)	N699I	possibly damaging	Het
Slc25a30	G	A	14: 76,000,112 (GRCm39)	Q285*	probably null	Het
Slc4a9	A	T	18: 36,668,592 (GRCm39)	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stac3	C	A	10: 127,343,616 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,446,566 (GRCm39)	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,049,555 (GRCm39)		probably null	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Trappc12	A	G	12: 28,797,259 (GRCm39)	V91A	probably benign	Het
Trim46	G	T	3: 89,143,820 (GRCm39)	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,769,698 (GRCm39)	I336L	probably benign	Het
Xylb	T	C	9: 119,210,653 (GRCm39)	S379P	probably damaging	Het
Zbtb37	T	C	1: 160,860,066 (GRCm39)	T80A	probably benign	Het
Zfhx3	A	G	8: 109,675,589 (GRCm39)	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,821,029 (GRCm39)	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,821,994 (GRCm39)	N356K	possibly 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
R0600:Arhgap12	UTSW	18	6,064,433 (GRCm39)	intron	probably benign
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'- AGCAGAGCAGCCATTCTCTCCTAC -3'
(R):5'- AGCCTTACCTTTGGAGCTTAGGACC -3'

Sequencing Primer
(F):5'- agccattcTCTCCTACAAAGCTG -3'
(R):5'- GGACCTGTTATTTTAAAGGCTCATC -3'

Posted On

2013-04-16