Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Arhgap10'

389371

Institutional Source

Beutler Lab

Gene Symbol

Arhgap10

Ensembl Gene

ENSMUSG00000037148

Gene Name

Rho GTPase activating protein 10

Synonyms

PSGAP-s, A930033B01Rik, PSGAP-m

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77976995-78244582 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78109386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 399 (L399H)

Ref Sequence

ENSEMBL: ENSMUSP00000147485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076316] [ENSMUST00000210519] [ENSMUST00000210922]

AlphaFold

Q6Y5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076316
AA Change: L399H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148
AA Change: L399H

Domain	Start	End	E-Value	Type
Pfam:BAR_3	6	249	3.3e-91	PFAM
PH	266	374	1.93e-6	SMART
RhoGAP	393	571	1.66e-63	SMART
low complexity region	633	649	N/A	INTRINSIC
SH3	731	786	1.91e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210519

Predicted Effect

probably damaging
Transcript: ENSMUST00000210922
AA Change: L399H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit paraparesis, ataxic hindlimbs and splaying of hindlimbs. [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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cfap46	C	A	7: 139,183,776 (GRCm39)	L90F	probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Dym	A	G	18: 75,252,232 (GRCm39)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
F13a1	A	C	13: 37,172,830 (GRCm39)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,050,125 (GRCm39)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Kel	A	T	6: 41,675,989 (GRCm39)	Y234N	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	probably benign	Het

Other mutations in Arhgap10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Arhgap10	APN	8	78,072,920 (GRCm39)	missense	possibly damaging	0.80
IGL01689:Arhgap10	APN	8	78,137,763 (GRCm39)	splice site	probably benign
IGL01802:Arhgap10	APN	8	78,146,714 (GRCm39)	missense	probably damaging	0.99
IGL01832:Arhgap10	APN	8	77,985,758 (GRCm39)	missense	probably benign	0.00
IGL02291:Arhgap10	APN	8	78,109,344 (GRCm39)	splice site	probably benign
IGL02834:Arhgap10	APN	8	78,091,729 (GRCm39)	missense	probably damaging	1.00
IGL02928:Arhgap10	APN	8	77,977,539 (GRCm39)	unclassified	probably benign
IGL03149:Arhgap10	APN	8	78,136,167 (GRCm39)	splice site	probably benign
IGL03215:Arhgap10	APN	8	78,003,781 (GRCm39)	missense	probably benign
IGL03331:Arhgap10	APN	8	78,146,711 (GRCm39)	missense	probably damaging	0.99
R0276:Arhgap10	UTSW	8	78,140,210 (GRCm39)	missense	probably benign	0.11
R0376:Arhgap10	UTSW	8	78,177,453 (GRCm39)	splice site	probably benign
R0454:Arhgap10	UTSW	8	77,977,594 (GRCm39)	missense	probably damaging	0.97
R0714:Arhgap10	UTSW	8	78,078,316 (GRCm39)	splice site	probably benign
R1033:Arhgap10	UTSW	8	77,983,976 (GRCm39)	missense	possibly damaging	0.80
R1036:Arhgap10	UTSW	8	78,037,398 (GRCm39)	missense	probably damaging	0.98
R1083:Arhgap10	UTSW	8	78,244,378 (GRCm39)	missense	probably damaging	1.00
R1596:Arhgap10	UTSW	8	78,177,326 (GRCm39)	missense	possibly damaging	0.93
R1710:Arhgap10	UTSW	8	78,085,216 (GRCm39)	nonsense	probably null
R1918:Arhgap10	UTSW	8	77,985,708 (GRCm39)	missense	probably benign
R1937:Arhgap10	UTSW	8	78,071,282 (GRCm39)	missense	probably damaging	1.00
R1959:Arhgap10	UTSW	8	78,136,255 (GRCm39)	missense	possibly damaging	0.78
R2348:Arhgap10	UTSW	8	78,177,555 (GRCm39)	splice site	probably benign
R3703:Arhgap10	UTSW	8	77,985,685 (GRCm39)	critical splice donor site	probably null
R3979:Arhgap10	UTSW	8	78,147,354 (GRCm39)	missense	probably benign	0.01
R4854:Arhgap10	UTSW	8	78,146,718 (GRCm39)	nonsense	probably null
R4855:Arhgap10	UTSW	8	78,159,367 (GRCm39)	critical splice donor site	probably null
R4928:Arhgap10	UTSW	8	78,152,957 (GRCm39)	critical splice donor site	probably null
R5532:Arhgap10	UTSW	8	78,146,701 (GRCm39)	missense	probably benign	0.19
R5644:Arhgap10	UTSW	8	78,137,684 (GRCm39)	missense	probably benign	0.00
R5781:Arhgap10	UTSW	8	78,177,336 (GRCm39)	missense	possibly damaging	0.56
R5824:Arhgap10	UTSW	8	78,085,181 (GRCm39)	nonsense	probably null
R5861:Arhgap10	UTSW	8	78,037,393 (GRCm39)	missense	probably damaging	1.00
R5872:Arhgap10	UTSW	8	78,071,267 (GRCm39)	critical splice donor site	probably null
R6360:Arhgap10	UTSW	8	77,985,831 (GRCm39)	nonsense	probably null
R6423:Arhgap10	UTSW	8	78,244,386 (GRCm39)	missense	probably damaging	1.00
R6694:Arhgap10	UTSW	8	78,137,692 (GRCm39)	missense	probably benign	0.00
R6900:Arhgap10	UTSW	8	78,037,491 (GRCm39)	missense	probably damaging	1.00
R6936:Arhgap10	UTSW	8	78,037,376 (GRCm39)	nonsense	probably null
R7001:Arhgap10	UTSW	8	78,091,717 (GRCm39)	missense	possibly damaging	0.51
R7150:Arhgap10	UTSW	8	77,977,583 (GRCm39)	missense	probably damaging	1.00
R7461:Arhgap10	UTSW	8	78,115,326 (GRCm39)	missense	probably damaging	0.99
R7525:Arhgap10	UTSW	8	78,146,699 (GRCm39)	critical splice donor site	probably null
R8051:Arhgap10	UTSW	8	78,244,309 (GRCm39)	missense	probably damaging	0.97
R8081:Arhgap10	UTSW	8	78,109,375 (GRCm39)	missense	possibly damaging	0.68
R8175:Arhgap10	UTSW	8	78,037,471 (GRCm39)	missense	probably benign	0.03
R8262:Arhgap10	UTSW	8	78,037,468 (GRCm39)	missense	probably benign
R8702:Arhgap10	UTSW	8	77,985,732 (GRCm39)	missense	probably benign
R8778:Arhgap10	UTSW	8	78,140,240 (GRCm39)	missense	probably damaging	1.00
R9015:Arhgap10	UTSW	8	77,985,687 (GRCm39)	missense	probably benign
R9113:Arhgap10	UTSW	8	77,985,701 (GRCm39)	missense	probably damaging	1.00
R9275:Arhgap10	UTSW	8	78,137,665 (GRCm39)	missense	probably damaging	1.00
R9457:Arhgap10	UTSW	8	78,111,415 (GRCm39)	missense	probably benign	0.43
R9623:Arhgap10	UTSW	8	77,985,786 (GRCm39)	missense	probably benign
Z1176:Arhgap10	UTSW	8	78,159,434 (GRCm39)	missense	probably damaging	0.97
Z1176:Arhgap10	UTSW	8	78,003,804 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCAGGAGTAACTGACCATG -3'
(R):5'- CATCTTGGTATGCATCGTGGAG -3'

Sequencing Primer
(F):5'- CAGGAGTAACTGACCATGCTCTG -3'
(R):5'- CCGTCTATGTCGGTTACACGG -3'

Posted On

2016-06-06