Mutagenetix > Incidental Mutation

Incidental Mutation 'R8048:Arhgap12'

618905

Institutional Source

Beutler Lab

Gene Symbol

Arhgap12

Ensembl Gene

ENSMUSG00000041225

Gene Name

Rho GTPase activating protein 12

Synonyms

2810011M08Rik

MMRRC Submission

067485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8048 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

6024448-6136102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6052883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 443 (T443I)

Ref Sequence

ENSEMBL: ENSMUSP00000076376 (fasta)

Gene Model

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

AlphaFold

Q8C0D4

Predicted Effect

probably benign
Transcript: ENSMUST00000062584
AA Change: T426I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054209
Gene: ENSMUSG00000041225
AA Change: T426I

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
AA Change: T443I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000076376
Gene: ENSMUSG00000041225
AA Change: T443I

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 benign
Transcript: ENSMUST00000182066
AA Change: T421I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138496
Gene: ENSMUSG00000041225
AA Change: T421I

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 benign
Transcript: ENSMUST00000182213
AA Change: T473I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138464
Gene: ENSMUSG00000041225
AA Change: T473I

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
AA Change: T396I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138444
Gene: ENSMUSG00000041225
AA Change: T396I

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 benign
Transcript: ENSMUST00000182559
AA Change: T468I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138585
Gene: ENSMUSG00000041225
AA Change: T468I

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

unknown
Transcript: ENSMUST00000182921
AA Change: T112I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,228,708 (GRCm39)	L318F	probably damaging	Het
Alms1	T	A	6: 85,618,316 (GRCm39)	S2318R	probably benign	Het
Arhgap29	C	T	3: 121,786,550 (GRCm39)	R372W	probably damaging	Het
Astn1	T	C	1: 158,516,208 (GRCm39)	I1266T	probably benign	Het
Bsg	T	C	10: 79,545,580 (GRCm39)	V164A	probably benign	Het
C1qa	G	T	4: 136,623,921 (GRCm39)	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,862 (GRCm39)	V92A	probably benign	Het
Ccdc187	T	A	2: 26,183,526 (GRCm39)	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,989,838 (GRCm39)	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,758,706 (GRCm39)	A285V	probably null	Het
Dsg1c	A	T	18: 20,407,824 (GRCm39)	K390M	probably damaging	Het
Dst	T	C	1: 34,229,717 (GRCm39)	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,533,959 (GRCm39)		probably null	Het
Fez2	T	C	17: 78,694,482 (GRCm39)	I303V	probably benign	Het
Ffar1	A	T	7: 30,560,003 (GRCm39)	I298N	probably benign	Het
Hpx	C	T	7: 105,244,685 (GRCm39)	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,098,786 (GRCm39)	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903 (GRCm38)	D99G	probably benign	Het
Ivl	T	A	3: 92,479,231 (GRCm39)	K278M	probably damaging	Het
Lyst	A	G	13: 13,862,230 (GRCm39)	T2589A	probably benign	Het
Madd	A	T	2: 90,984,793 (GRCm39)	M1359K	probably damaging	Het
Nav3	T	C	10: 109,600,779 (GRCm39)	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,156,661 (GRCm39)	C439*	probably null	Het
Nebl	T	C	2: 17,429,333 (GRCm39)	D266G	probably benign	Het
Oas1f	G	T	5: 120,985,602 (GRCm39)	G49V	probably damaging	Het
Oas1f	A	T	5: 120,986,479 (GRCm39)	Q144L	possibly damaging	Het
Or11g7	T	C	14: 50,691,373 (GRCm39)	L288P	possibly damaging	Het
Or2ab1	A	G	11: 58,488,233 (GRCm39)	I6V	unknown	Het
Or2n1	T	C	17: 38,486,419 (GRCm39)	V148A	probably benign	Het
Or5an6	A	G	19: 12,371,719 (GRCm39)	I31V	not run	Het
Or5j3	C	T	2: 86,128,672 (GRCm39)	P171S	probably benign	Het
Or5m3	T	G	2: 85,838,524 (GRCm39)	S135A	probably damaging	Het
Or5t18	T	A	2: 86,636,515 (GRCm39)	Y276F	probably damaging	Het
Or6b6	C	T	7: 106,571,671 (GRCm39)		probably benign	Het
Or8b52	C	T	9: 38,577,108 (GRCm39)	E11K	probably benign	Het
Or8j3c	T	A	2: 86,253,651 (GRCm39)	Y123F	probably damaging	Het
Pard3b	T	A	1: 62,193,148 (GRCm39)	V217E	probably damaging	Het
Pcdha2	T	A	18: 37,072,513 (GRCm39)	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,120,991 (GRCm39)	F1248L		Het
Plekha2	A	T	8: 25,554,005 (GRCm39)		probably benign	Het
Plpp4	C	T	7: 128,981,201 (GRCm39)	R151C	unknown	Het
Pramel14	T	A	4: 143,718,177 (GRCm39)	Y422F	probably benign	Het
Prdm16	A	G	4: 154,405,339 (GRCm39)	L1245P	probably damaging	Het
Prob1	G	A	18: 35,786,604 (GRCm39)	A550V	probably benign	Het
Prok1	T	C	3: 107,144,408 (GRCm39)	H65R	probably benign	Het
Ptcd1	A	G	5: 145,091,887 (GRCm39)	V404A	probably benign	Het
Sbf2	T	C	7: 109,914,289 (GRCm39)	E1631G	probably benign	Het
Sdad1	C	A	5: 92,447,948 (GRCm39)	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,794,272 (GRCm39)	A547S	probably benign	Het
Sptb	T	C	12: 76,675,333 (GRCm39)	D227G	probably benign	Het
Tbx1	A	G	16: 18,406,769 (GRCm39)	M1T	probably null	Het
Tespa1	T	A	10: 130,183,208 (GRCm39)	V51D	probably damaging	Het
Tmc7	T	C	7: 118,165,468 (GRCm39)	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476 (GRCm39)	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,493 (GRCm39)	T23S	probably damaging	Het
Trib3	A	T	2: 152,180,553 (GRCm39)	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,013,981 (GRCm39)	V178A	probably benign	Het
Virma	T	A	4: 11,539,918 (GRCm39)	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,691,762 (GRCm39)	T254A	probably benign	Het
Vps13d	A	G	4: 144,882,137 (GRCm39)	V1152A		Het
Wdr47	T	C	3: 108,526,284 (GRCm39)	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,561,977 (GRCm39)	D676E	unknown	Het
Zc3h6	T	A	2: 128,858,934 (GRCm39)	S988R	probably benign	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
R7359:Arhgap12	UTSW	18	6,065,709 (GRCm39)	missense	possibly damaging	0.92
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'- ATAGGACCTGACATGAGAACAC -3'
(R):5'- ATAGTGCTGTGATAAAAGGTGTGC -3'

Sequencing Primer
(F):5'- TGACATGAGAACACACAGCCG -3'
(R):5'- GCTGTGATAAAAGGTGTGCTATTTAC -3'

Posted On

2020-01-23