Mutagenetix > Incidental Mutation

Incidental Mutation 'R4855:Arhgap10'

374546

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

042466-MU

Accession Numbers

Essential gene?

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

Stock #

R4855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77976995-78244582 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 78159367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147485 (fasta)

Gene Model

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

AlphaFold

Q6Y5D8

Predicted Effect

probably null
Transcript: ENSMUST00000076316

SMART Domains

Protein: ENSMUSP00000075658
Gene: ENSMUSG00000037148

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 null
Transcript: ENSMUST00000210519

Predicted Effect

probably null
Transcript: ENSMUST00000210922

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (93/95)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adad1	G	T	3: 37,139,260 (GRCm39)	L443F	probably damaging	Het
Amph	T	A	13: 19,268,378 (GRCm39)	M70K	probably damaging	Het
Ankra2	T	A	13: 98,409,919 (GRCm39)	L306H	probably damaging	Het
Arc	A	C	15: 74,543,592 (GRCm39)	D210E	probably benign	Het
Atp8b5	T	A	4: 43,344,449 (GRCm39)	N445K	probably benign	Het
C1qc	G	T	4: 136,617,746 (GRCm39)	Q117K	probably benign	Het
Cadps	T	A	14: 12,822,449 (GRCm38)	E97V	unknown	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cdk13	A	T	13: 17,895,868 (GRCm39)	W1014R	probably damaging	Het
Cltb	C	T	13: 54,746,908 (GRCm39)	E23K	probably damaging	Het
Clvs2	A	T	10: 33,498,642 (GRCm39)	I96N	probably damaging	Het
Cwf19l1	A	G	19: 44,103,006 (GRCm39)	V403A	probably damaging	Het
Ddr2	A	T	1: 169,816,066 (GRCm39)	L547Q	possibly damaging	Het
Ebf1	A	T	11: 44,863,735 (GRCm39)	K354*	probably null	Het
Fat4	A	G	3: 38,942,466 (GRCm39)	Q453R	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gata6	A	G	18: 11,054,497 (GRCm39)	E142G	possibly damaging	Het
Gm14221	T	C	2: 160,416,600 (GRCm39)		noncoding transcript	Het
Gm42791	C	A	5: 148,896,247 (GRCm39)		probably benign	Het
Gm6370	G	T	5: 146,430,621 (GRCm39)	V269L	probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpt	A	T	15: 76,583,485 (GRCm39)	E206V	probably damaging	Het
Grm3	G	A	5: 9,620,047 (GRCm39)	A399V	probably damaging	Het
Helq	A	T	5: 100,931,025 (GRCm39)	V575E	possibly damaging	Het
Herc4	A	G	10: 63,151,437 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,557,381 (GRCm39)	N452K	probably damaging	Het
Ikbke	A	G	1: 131,184,848 (GRCm39)		probably null	Het
Kbtbd2	A	G	6: 56,756,687 (GRCm39)	F350L	probably benign	Het
Kmt2c	A	G	5: 25,519,555 (GRCm39)	V2185A	probably benign	Het
Lgi2	T	C	5: 52,695,849 (GRCm39)	Q362R	probably damaging	Het
Lrit1	G	A	14: 36,783,773 (GRCm39)	G367E	possibly damaging	Het
Lrp1	G	A	10: 127,446,311 (GRCm39)	H78Y	probably benign	Het
Matk	A	G	10: 81,098,720 (GRCm39)		probably benign	Het
Med21	G	A	6: 146,549,690 (GRCm39)	G24S	probably damaging	Het
Met	G	T	6: 17,558,796 (GRCm39)	L1141F	probably damaging	Het
Mroh3	A	T	1: 136,128,677 (GRCm39)		probably null	Het
Mrpl15	T	C	1: 4,844,683 (GRCm39)	I203V	probably benign	Het
Naip1	T	C	13: 100,559,728 (GRCm39)		probably null	Het
Ndufa9	A	C	6: 126,804,505 (GRCm39)	Y298*	probably null	Het
Neb	T	C	2: 52,188,906 (GRCm39)	E808G	probably damaging	Het
Nol4l	C	T	2: 153,253,726 (GRCm39)	G616S	probably benign	Het
Oprm1	T	A	10: 6,788,468 (GRCm39)	C408S	probably benign	Het
Or2ag18	T	C	7: 106,405,463 (GRCm39)	M69V	probably benign	Het
Or4f14	A	G	2: 111,742,444 (GRCm39)	V277A	probably benign	Het
Or4k42	T	G	2: 111,320,293 (GRCm39)	D70A	probably damaging	Het
Or52e7	T	A	7: 104,684,858 (GRCm39)	I151N	probably damaging	Het
Or5ak20	T	C	2: 85,183,793 (GRCm39)	N159S	possibly damaging	Het
Paqr3	A	G	5: 97,256,053 (GRCm39)	I107T	possibly damaging	Het
Pex5l	G	A	3: 33,196,989 (GRCm39)		probably benign	Het
Phf8-ps	C	T	17: 33,285,713 (GRCm39)	S363N	probably benign	Het
Pik3ap1	T	C	19: 41,316,284 (GRCm39)	D326G	probably benign	Het
Plaa	G	T	4: 94,474,645 (GRCm39)	D252E	probably damaging	Het
Plxna2	G	A	1: 194,480,040 (GRCm39)	V1404I	probably benign	Het
Ppargc1a	G	A	5: 51,631,564 (GRCm39)	A355V	possibly damaging	Het
Primpol	A	G	8: 47,039,726 (GRCm39)	S350P	probably benign	Het
Prlr	T	C	15: 10,328,883 (GRCm39)	S453P	probably benign	Het
Psmd5	T	C	2: 34,742,564 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,768,079 (GRCm39)	V571E	probably damaging	Het
Sbspon	A	T	1: 15,929,264 (GRCm39)	S176T	possibly damaging	Het
Scyl2	G	A	10: 89,476,325 (GRCm39)		probably benign	Het
Sema3e	T	A	5: 14,280,144 (GRCm39)	V341E	probably damaging	Het
Serpinb3b	A	T	1: 107,082,270 (GRCm39)	F331L	possibly damaging	Het
Setd2	A	G	9: 110,401,022 (GRCm39)	H1736R	probably benign	Het
Sidt2	A	T	9: 45,863,327 (GRCm39)	D180E	probably benign	Het
Skint9	A	T	4: 112,248,208 (GRCm39)	Y179N	probably benign	Het
Slc27a5	T	C	7: 12,722,560 (GRCm39)	N638S	probably benign	Het
Slc6a4	T	A	11: 76,904,135 (GRCm39)	W197R	probably damaging	Het
Spag17	A	T	3: 99,970,649 (GRCm39)	M1278L	probably benign	Het
Sptbn1	T	A	11: 30,092,353 (GRCm39)	I471F	probably damaging	Het
Tasor2	A	T	13: 3,616,680 (GRCm39)		probably null	Het
Teddm1a	A	G	1: 153,768,382 (GRCm39)	Q282R	probably benign	Het
Tex35	A	G	1: 156,927,295 (GRCm39)	L160P	probably damaging	Het
Tfap2c	T	C	2: 172,393,438 (GRCm39)	Y118H	probably damaging	Het
Tpp1	T	C	7: 105,395,930 (GRCm39)	Q533R	probably benign	Het
Ttc13	C	T	8: 125,401,174 (GRCm39)	D730N	probably damaging	Het
Ufc1	A	G	1: 171,122,375 (GRCm39)		probably benign	Het
Vcpip1	A	G	1: 9,817,589 (GRCm39)	W265R	probably damaging	Het
Wdr11	C	G	7: 129,202,158 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,341,408 (GRCm39)	I1216M	possibly damaging	Het
Zswim2	A	G	2: 83,747,187 (GRCm39)		probably null	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
R4928:Arhgap10	UTSW	8	78,152,957 (GRCm39)	critical splice donor site	probably null
R5033:Arhgap10	UTSW	8	78,109,386 (GRCm39)	missense	probably damaging	0.99
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'- CTGCCCATCCAGGTGTTTTG -3'
(R):5'- ACTCAGTTGTTGCATTGGCG -3'

Sequencing Primer
(F):5'- CCCATCCAGGTGTTTTGTTTTG -3'
(R):5'- AAACAGCCAAGTGTGTTGTTG -3'

Posted On

2016-03-16