Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Phactr3'

263722

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R3112 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

178118975-178338492 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 178279017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 180 (L180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]

AlphaFold

Q8BYK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103065
AA Change: L180Q

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: L180Q

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
RPEL	52	77	2.08e0	SMART
low complexity region	187	206	N/A	INTRINSIC
RPEL	360	385	5.1e-4	SMART
low complexity region	387	397	N/A	INTRINSIC
RPEL	398	423	3.24e-6	SMART
RPEL	436	461	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103066
AA Change: L220Q

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: L220Q

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
RPEL	92	117	2.08e0	SMART
low complexity region	227	246	N/A	INTRINSIC
RPEL	400	425	5.1e-4	SMART
low complexity region	427	437	N/A	INTRINSIC
RPEL	438	463	3.24e-6	SMART
RPEL	476	501	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108915
AA Change: L221Q

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: L221Q

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
RPEL	93	118	2.08e0	SMART
low complexity region	228	247	N/A	INTRINSIC
RPEL	401	426	5.1e-4	SMART
low complexity region	428	438	N/A	INTRINSIC
RPEL	439	464	3.24e-6	SMART
RPEL	477	502	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108916
AA Change: L216Q

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: L216Q

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	434	459	3.24e-6	SMART
RPEL	472	497	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108917
AA Change: L216Q

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: L216Q

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	436	458	2.74e-4	SMART
RPEL	471	496	9.82e-6	SMART

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	178279062	missense	probably benign	0.00
IGL01432:Phactr3	APN	2	178283100	missense	probably benign	0.05
IGL01580:Phactr3	APN	2	178269504	splice site	probably benign
IGL02688:Phactr3	APN	2	178278999	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	178175457	missense	probably benign
PIT4151001:Phactr3	UTSW	2	178334068	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	178283147	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	178283966	missense	probably benign	0.14
R3110:Phactr3	UTSW	2	178279017	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	178331618	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	178283152	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	178283109	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	178283189	splice site	probably null
R4245:Phactr3	UTSW	2	178283189	splice site	probably null
R4397:Phactr3	UTSW	2	178175406	intron	probably benign
R4433:Phactr3	UTSW	2	178283132	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	178283172	missense	probably damaging	1.00
R4772:Phactr3	UTSW	2	178283936	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	178284018	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	178331619	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	178142461	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	178278901	missense	probably benign
R5816:Phactr3	UTSW	2	178302793	missense	probably damaging	1.00
R6276:Phactr3	UTSW	2	178279019	missense	probably damaging	0.99
R6668:Phactr3	UTSW	2	178332864	missense	probably damaging	1.00
R7144:Phactr3	UTSW	2	178302736	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	178334061	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	178283910	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	178332944	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	178302796	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	178256142	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	178284026	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	178332965	splice site	probably benign
R9153:Phactr3	UTSW	2	178283946	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	178284063	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	178284044	nonsense	probably null
R9721:Phactr3	UTSW	2	178256250	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	178256250	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	178334103	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	178283012	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	178269374	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGATCAGTGTCTTCCCACC -3'
(R):5'- TGCTGAGGCAATGACAAGAGTC -3'

Sequencing Primer
(F):5'- GATCAGTGTCTTCCCACCATCAAG -3'
(R):5'- CAAGAGTCAGCCTGGAGC -3'

Posted On

2015-02-05