Mutagenetix > Incidental Mutations

Incidental Mutation 'R5491:Phactr2'

432087

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

043052-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13207717-13474412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13261846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 184 (N184S)

Ref Sequence

ENSEMBL: ENSMUSP00000101184 (fasta)

Gene Model

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

AlphaFold

B1AVP0

Predicted Effect

probably benign
Transcript: ENSMUST00000079698
AA Change: N114S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: N114S

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

possibly damaging
Transcript: ENSMUST00000105543
AA Change: N125S

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: N125S

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

possibly damaging
Transcript: ENSMUST00000105545
AA Change: N184S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: N184S

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

possibly damaging
Transcript: ENSMUST00000105546
AA Change: N114S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: N114S

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

possibly damaging
Transcript: ENSMUST00000105547
AA Change: N184S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: N184S

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

1x: 98.2%
3x: 97.2%
10x: 95.0%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	C	A	15: 84,406,510	V199L	probably benign	Het
A1cf	G	T	19: 31,918,062	A182S	possibly damaging	Het
Aldh1l2	A	T	10: 83,522,785	D2E	probably benign	Het
Bach2	G	T	4: 32,562,681	D383Y	probably damaging	Het
Cd248	T	C	19: 5,070,209	L695P	probably damaging	Het
Cela1	T	A	15: 100,682,980	N132Y	probably damaging	Het
Cisd2	A	T	3: 135,408,840	D123E	probably damaging	Het
Col6a6	T	A	9: 105,738,236	D1571V	probably damaging	Het
Fam71e2	T	C	7: 4,757,926	I596V	probably benign	Het
Fbxo48	C	T	11: 16,954,280	T144M	probably damaging	Het
Fbxo7	C	A	10: 86,048,026	P497Q	probably damaging	Het
Gm12695	T	A	4: 96,769,668	H88L	possibly damaging	Het
Gm8994	C	G	6: 136,329,557	R339G	probably damaging	Het
Gpat4	A	G	8: 23,180,664	I133T	probably benign	Het
Hmcn1	C	T	1: 150,609,825		probably null	Het
Ncaph	T	C	2: 127,123,675	T252A	probably benign	Het
Nebl	G	T	2: 17,434,972	Y163*	probably null	Het
Neurod4	C	T	10: 130,271,067	V113I	possibly damaging	Het
Olfr1305	T	A	2: 111,873,562	I98F	probably benign	Het
Olfr411	A	T	11: 74,346,914	H103Q	probably benign	Het
Olfr71	A	G	4: 43,705,990	S193P	probably damaging	Het
Pbxip1	T	A	3: 89,443,159	M37K	probably benign	Het
Phf20l1	C	T	15: 66,615,785	P480L	possibly damaging	Het
Psme4	T	C	11: 30,815,246	S538P	possibly damaging	Het
Rassf1	T	A	9: 107,561,415	M228K	possibly damaging	Het
Rpn2	A	G	2: 157,297,383	D231G	probably damaging	Het
She	A	T	3: 89,831,790	D96V	probably damaging	Het
Tmem260	T	A	14: 48,512,170		probably null	Het
Ttn	T	A	2: 76,732,358	I28751F	probably damaging	Het
Zfp60	T	G	7: 27,748,515		probably null	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
IGL02458:Phactr2	APN	10	13261828	missense	probably damaging	1.00
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
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
RF023:Phactr2	UTSW	10	13245434	missense	probably benign	0.10
X0026:Phactr2	UTSW	10	13257634	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAGGGCACACTATAACTGG -3'
(R):5'- ACGAACCTAGATCCTGCAGTC -3'

Sequencing Primer
(F):5'- GGGCACACTATAACTGGATGTCTC -3'
(R):5'- CTAGATCCTGCAGTCCTAGTGAATG -3'

Posted On

2016-10-05