Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Phactr2'

294483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

13207717-13474412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13261828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

Ref Sequence

ENSEMBL: ENSMUSP00000101185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079698] [ENSMUST00000105543] [ENSMUST00000105545] [ENSMUST00000105546]

AlphaFold

B1AVP0

Predicted Effect

probably benign
Transcript: ENSMUST00000079698
AA Change: E120G

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: E120G

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
RPEL	60	85	7.44e-6	SMART
low complexity region	154	179	N/A	INTRINSIC
low complexity region	208	218	N/A	INTRINSIC
low complexity region	250	270	N/A	INTRINSIC
low complexity region	378	388	N/A	INTRINSIC
RPEL	403	428	5.81e-8	SMART
RPEL	441	466	1.36e-8	SMART
RPEL	479	504	1.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105543
AA Change: E131G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: E131G

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
RPEL	71	96	7.44e-6	SMART
low complexity region	165	190	N/A	INTRINSIC
low complexity region	219	229	N/A	INTRINSIC
low complexity region	261	281	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
RPEL	414	439	5.81e-8	SMART
RPEL	452	477	1.36e-8	SMART
RPEL	490	515	1.64e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105545
AA Change: E190G

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

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: E190G

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
RPEL	71	96	7.44e-6	SMART
low complexity region	157	182	N/A	INTRINSIC
low complexity region	211	221	N/A	INTRINSIC
low complexity region	253	273	N/A	INTRINSIC
low complexity region	381	391	N/A	INTRINSIC
RPEL	406	431	5.81e-8	SMART
RPEL	444	469	1.36e-8	SMART
RPEL	482	507	1.64e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105546
AA Change: E120G

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

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: E120G

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
RPEL	60	85	7.44e-6	SMART
low complexity region	133	144	N/A	INTRINSIC
low complexity region	149	184	N/A	INTRINSIC
low complexity region	199	213	N/A	INTRINSIC
low complexity region	226	251	N/A	INTRINSIC
low complexity region	280	290	N/A	INTRINSIC
low complexity region	322	342	N/A	INTRINSIC
low complexity region	450	460	N/A	INTRINSIC
RPEL	475	500	5.81e-8	SMART
RPEL	513	538	1.36e-8	SMART
RPEL	551	576	1.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105547
AA Change: E190G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: E190G

Domain	Start	End	E-Value	Type
low complexity region	12	36	N/A	INTRINSIC
low complexity region	50	65	N/A	INTRINSIC
low complexity region	109	124	N/A	INTRINSIC
RPEL	130	155	7.44e-6	SMART
low complexity region	224	249	N/A	INTRINSIC
low complexity region	278	288	N/A	INTRINSIC
low complexity region	320	340	N/A	INTRINSIC
low complexity region	448	458	N/A	INTRINSIC
RPEL	473	498	5.81e-8	SMART
RPEL	511	536	1.36e-8	SMART
RPEL	549	574	1.64e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Phactr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Phactr2	APN	10	13245535	missense	probably damaging	1.00
IGL01844:Phactr2	APN	10	13253437	missense	probably benign	0.05
IGL01893:Phactr2	APN	10	13247188	missense	probably benign	0.38
IGL02612:Phactr2	APN	10	13245423	missense	probably damaging	0.99
IGL02620:Phactr2	APN	10	13291888	missense	probably damaging	1.00
IGL03064:Phactr2	APN	10	13388713	utr 5 prime	probably benign
IGL03493:Phactr2	APN	10	13257669	missense	probably benign	0.02
R0973:Phactr2	UTSW	10	13247139	missense	possibly damaging	0.88
R0973:Phactr2	UTSW	10	13247139	missense	possibly damaging	0.88
R0974:Phactr2	UTSW	10	13247139	missense	possibly damaging	0.88
R1480:Phactr2	UTSW	10	13253792	missense	possibly damaging	0.74
R3115:Phactr2	UTSW	10	13261901	nonsense	probably null
R3116:Phactr2	UTSW	10	13261901	nonsense	probably null
R3713:Phactr2	UTSW	10	13388732	start gained	probably benign
R4367:Phactr2	UTSW	10	13253820	missense	probably damaging	1.00
R4368:Phactr2	UTSW	10	13253820	missense	probably damaging	1.00
R4371:Phactr2	UTSW	10	13253820	missense	probably damaging	1.00
R5344:Phactr2	UTSW	10	13253616	missense	possibly damaging	0.76
R5491:Phactr2	UTSW	10	13261846	missense	possibly damaging	0.91
R5617:Phactr2	UTSW	10	13474065	missense	possibly damaging	0.60
R5656:Phactr2	UTSW	10	13388703	missense	probably benign	0.34
R5895:Phactr2	UTSW	10	13245517	missense	probably damaging	1.00
R6051:Phactr2	UTSW	10	13261811	splice site	probably null	0.00
R6317:Phactr2	UTSW	10	13261882	missense	probably damaging	0.98
R7048:Phactr2	UTSW	10	13245424	missense	probably benign	0.28
R7101:Phactr2	UTSW	10	13247178	missense	probably benign	0.00
R7221:Phactr2	UTSW	10	13247039	missense	possibly damaging	0.58
R7868:Phactr2	UTSW	10	13232609	missense	probably damaging	1.00
R8408:Phactr2	UTSW	10	13253826	missense	probably damaging	1.00
R8865:Phactr2	UTSW	10	13253732	missense	probably benign	0.00
R9095:Phactr2	UTSW	10	13253642	missense	probably benign	0.26
R9443:Phactr2	UTSW	10	13247097	missense	probably benign	0.00
R9572:Phactr2	UTSW	10	13388817	unclassified	probably benign
R9695:Phactr2	UTSW	10	13474164	missense	unknown
RF023:Phactr2	UTSW	10	13245434	missense	probably benign	0.10
X0026:Phactr2	UTSW	10	13257634	nonsense	probably null

Posted On

2015-04-16