Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Arhgap12'

571236

Institutional Source

Beutler Lab

Gene Symbol

Arhgap12

Ensembl Gene

ENSMUSG00000041225

Gene Name

Rho GTPase activating protein 12

Synonyms

2810011M08Rik

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6024448-6136102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6065709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 359 (E359G)

Ref Sequence

ENSEMBL: ENSMUSP00000076376 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000077128
AA Change: E359G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: E359G

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: ENSMUST00000182038
AA Change: E359G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138150
Gene: ENSMUSG00000041225
AA Change: E359G

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

probably damaging
Transcript: ENSMUST00000182213
AA Change: E359G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: E359G

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: 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

probably damaging
Transcript: ENSMUST00000182559
AA Change: E359G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: E359G

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: ENSMUST00000182921

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Phf23	T	A	11: 69,889,467 (GRCm39)	V167E	possibly damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	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
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
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'- TGCTATGAGGAATACTTCTCATGAG -3'
(R):5'- ATAACCATTGTTAGTTGTACCTCAC -3'

Sequencing Primer
(F):5'- GAGCTTTGCTGATCAGTCAAGAC -3'
(R):5'- AGTCTTTTTAGATTCTCACTCACTGC -3'

Posted On

2019-09-13