Mutagenetix > Incidental Mutation

Incidental Mutation 'R6985:Arhgap1'

542888

Institutional Source

Beutler Lab

Gene Symbol

Arhgap1

Ensembl Gene

ENSMUSG00000027247

Gene Name

Rho GTPase activating protein 1

Synonyms

Cdc42GAP, B230365D05Rik, p50rhoGAP

MMRRC Submission

045092-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R6985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91480463-91502670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91498543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 147 (Y147N)

Ref Sequence

ENSEMBL: ENSMUSP00000106963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000111329] [ENSMUST00000111330] [ENSMUST00000111331]

AlphaFold

Q5FWK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000090614
AA Change: Y107N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
AA Change: Y107N

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
SEC14	64	215	5.08e-25	SMART
low complexity region	224	238	N/A	INTRINSIC
RhoGAP	257	428	1.06e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111329
AA Change: Y107N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
AA Change: Y107N

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
SEC14	64	215	5.08e-25	SMART
low complexity region	224	238	N/A	INTRINSIC
RhoGAP	257	428	1.06e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111330
AA Change: Y107N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247
AA Change: Y107N

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
SEC14	64	215	5.08e-25	SMART
low complexity region	224	238	N/A	INTRINSIC
RhoGAP	257	428	1.06e-61	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111331
AA Change: Y147N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: Y147N

Domain	Start	End	E-Value	Type
low complexity region	44	58	N/A	INTRINSIC
low complexity region	82	92	N/A	INTRINSIC
SEC14	104	255	5.08e-25	SMART
low complexity region	264	278	N/A	INTRINSIC
RhoGAP	297	468	1.06e-61	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

100% (66/66)

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 contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice display incomplete penetrance of postnatal lethality, increased apoptosis, and growth retardation. [provided by MGI curators]

Allele List at MGI

All alleles(28) : Targeted(1) Gene trapped(27)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin1	A	G	4: 123,630,649 (GRCm39)	*192R	probably null	Het
Ankar	A	C	1: 72,697,641 (GRCm39)	L836R	probably damaging	Het
Anxa7	G	T	14: 20,521,636 (GRCm39)	A20E	unknown	Het
Arid2	T	C	15: 96,268,029 (GRCm39)	V714A	probably benign	Het
Arrdc3	T	C	13: 81,031,776 (GRCm39)	L3P	probably damaging	Het
Bhmt2	T	C	13: 93,799,830 (GRCm39)	D202G	possibly damaging	Het
Bub1b	A	G	2: 118,437,095 (GRCm39)	R98G	probably damaging	Het
Capn10	T	C	1: 92,871,146 (GRCm39)	Y319H	probably damaging	Het
Cep95	T	C	11: 106,709,529 (GRCm39)	F115S	probably damaging	Het
Chsy3	A	T	18: 59,309,560 (GRCm39)		probably null	Het
Cnot1	T	C	8: 96,460,757 (GRCm39)	N1755S	probably benign	Het
Cntn4	A	G	6: 106,656,378 (GRCm39)	N893S	probably benign	Het
Ctsh	G	A	9: 89,936,657 (GRCm39)	A19T	possibly damaging	Het
Cttn	C	A	7: 144,006,324 (GRCm39)	E214*	probably null	Het
Des	A	G	1: 75,343,431 (GRCm39)	E438G	possibly damaging	Het
Dnaja4	T	C	9: 54,615,679 (GRCm39)	V109A	probably benign	Het
Dock1	A	G	7: 134,765,132 (GRCm39)	E1708G	possibly damaging	Het
Dst	T	C	1: 34,229,934 (GRCm39)	I2184T	probably benign	Het
Enc1	C	T	13: 97,381,628 (GRCm39)	T46I	possibly damaging	Het
Etaa1	A	G	11: 17,896,108 (GRCm39)	S670P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fbn2	A	T	18: 58,201,460 (GRCm39)	V1319E	probably damaging	Het
Fcrl1	T	A	3: 87,296,957 (GRCm39)	V302E	probably benign	Het
Fgfr3	G	C	5: 33,892,785 (GRCm39)	E744Q	probably null	Het
Gmps	T	A	3: 63,922,960 (GRCm39)	I641N	probably damaging	Het
Gpc2	T	A	5: 138,276,670 (GRCm39)	Y152F	probably damaging	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Herc2	A	G	7: 55,782,228 (GRCm39)	D1305G	probably damaging	Het
Ighv1-37	T	C	12: 114,860,252 (GRCm39)	T14A	probably benign	Het
Insr	T	A	8: 3,211,372 (GRCm39)	M1156L	possibly damaging	Het
Kirrel2	C	A	7: 30,154,731 (GRCm39)	G127C	probably damaging	Het
Krt10	T	C	11: 99,276,456 (GRCm39)	N65S	possibly damaging	Het
Lrig3	A	G	10: 125,850,738 (GRCm39)	I1101M	possibly damaging	Het
Lrrc55	T	G	2: 85,022,274 (GRCm39)	N306H	probably benign	Het
Map4k3	A	G	17: 80,944,161 (GRCm39)	S329P	probably damaging	Het
Mapkap1	T	G	2: 34,322,122 (GRCm39)	H13Q	probably damaging	Het
Mki67	A	G	7: 135,315,594 (GRCm39)	L60S	probably damaging	Het
Muc4	A	T	16: 32,570,817 (GRCm39)	M626L	probably benign	Het
Mycbp2	C	T	14: 103,444,117 (GRCm39)	V1914I	possibly damaging	Het
Myo5b	T	C	18: 74,786,432 (GRCm39)	F442L	possibly damaging	Het
Naa35	T	A	13: 59,775,757 (GRCm39)	M545K	probably benign	Het
Nrxn2	T	A	19: 6,531,275 (GRCm39)	V645E	probably damaging	Het
Or52z14	A	G	7: 103,252,875 (GRCm39)	T5A	probably benign	Het
Or5af2	T	C	11: 58,707,939 (GRCm39)	F35S	probably damaging	Het
Otx1	A	T	11: 21,946,615 (GRCm39)	Y231*	probably null	Het
Pcdhb19	A	G	18: 37,630,211 (GRCm39)	E2G	probably benign	Het
Pik3c2a	G	A	7: 116,017,223 (GRCm39)	T178I	probably damaging	Het
Plxna4	A	G	6: 32,214,643 (GRCm39)	S613P	probably damaging	Het
Pon1	T	G	6: 5,168,345 (GRCm39)	D354A	probably benign	Het
Prtg	T	G	9: 72,758,783 (GRCm39)	I379S	probably damaging	Het
Rbm17	T	G	2: 11,595,504 (GRCm39)	M234L	probably benign	Het
Rex1bd	T	C	8: 70,958,555 (GRCm39)	S71G	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Shank1	A	G	7: 43,994,337 (GRCm39)	I833V	unknown	Het
Slc35f1	C	A	10: 52,898,007 (GRCm39)	D139E	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Spata31d1d	T	A	13: 59,879,429 (GRCm39)	I36F	probably benign	Het
Sstr4	T	A	2: 148,238,169 (GRCm39)	M260K	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Trat1	A	G	16: 48,574,634 (GRCm39)	Y55H	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Vcan	T	C	13: 89,828,075 (GRCm39)	T3124A	probably damaging	Het
Wdfy4	A	T	14: 32,821,074 (GRCm39)	F1385Y	possibly damaging	Het
Xrcc3	T	C	12: 111,778,530 (GRCm39)	D7G	probably damaging	Het

Other mutations in Arhgap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Arhgap1	APN	2	91,480,564 (GRCm39)	splice site	probably null
IGL02283:Arhgap1	APN	2	91,501,121 (GRCm39)	missense	probably damaging	1.00
IGL02540:Arhgap1	APN	2	91,500,584 (GRCm39)	missense	probably damaging	1.00
P0012:Arhgap1	UTSW	2	91,500,608 (GRCm39)	missense	probably benign	0.00
P0041:Arhgap1	UTSW	2	91,499,738 (GRCm39)	missense	probably benign	0.03
R0049:Arhgap1	UTSW	2	91,500,514 (GRCm39)	missense	probably damaging	1.00
R0049:Arhgap1	UTSW	2	91,500,514 (GRCm39)	missense	probably damaging	1.00
R1385:Arhgap1	UTSW	2	91,501,176 (GRCm39)	missense	probably damaging	1.00
R4386:Arhgap1	UTSW	2	91,498,582 (GRCm39)	missense	probably damaging	1.00
R5774:Arhgap1	UTSW	2	91,484,453 (GRCm39)	missense	possibly damaging	0.91
R8855:Arhgap1	UTSW	2	91,499,744 (GRCm39)	missense	probably benign	0.01
R8866:Arhgap1	UTSW	2	91,499,744 (GRCm39)	missense	probably benign	0.01
Z1176:Arhgap1	UTSW	2	91,480,559 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCTTGATGCAAGCACTGGTTTC -3'
(R):5'- ACCACCCAGAGCTCAGAGTTAG -3'

Sequencing Primer
(F):5'- GCAAGCACTGGTTTCTATGGTAAC -3'
(R):5'- TCAGAGTTAGCCACCCTAGG -3'

Posted On

2018-11-28