Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Phactr3'

477892

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R3110 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

177760768-177980285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 177920810 bp (GRCm39)

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: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acads	T	C	5: 115,255,757 (GRCm39)	H26R	probably benign	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	177,920,855 (GRCm39)	missense	probably benign	0.00
IGL01432:Phactr3	APN	2	177,924,893 (GRCm39)	missense	probably benign	0.05
IGL01580:Phactr3	APN	2	177,911,297 (GRCm39)	splice site	probably benign
IGL02688:Phactr3	APN	2	177,920,792 (GRCm39)	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	177,817,250 (GRCm39)	missense	probably benign
PIT4151001:Phactr3	UTSW	2	177,975,861 (GRCm39)	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	177,924,940 (GRCm39)	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	177,925,759 (GRCm39)	missense	probably benign	0.14
R3112:Phactr3	UTSW	2	177,920,810 (GRCm39)	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	177,973,411 (GRCm39)	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	177,924,945 (GRCm39)	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	177,924,902 (GRCm39)	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4245:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4397:Phactr3	UTSW	2	177,817,199 (GRCm39)	intron	probably benign
R4433:Phactr3	UTSW	2	177,924,925 (GRCm39)	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	177,924,965 (GRCm39)	missense	probably damaging	1.00
R4772:Phactr3	UTSW	2	177,925,729 (GRCm39)	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	177,925,811 (GRCm39)	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	177,973,412 (GRCm39)	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	177,784,254 (GRCm39)	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	177,920,694 (GRCm39)	missense	probably benign
R5816:Phactr3	UTSW	2	177,944,586 (GRCm39)	missense	probably damaging	1.00
R6276:Phactr3	UTSW	2	177,920,812 (GRCm39)	missense	probably damaging	0.99
R6668:Phactr3	UTSW	2	177,974,657 (GRCm39)	missense	probably damaging	1.00
R7144:Phactr3	UTSW	2	177,944,529 (GRCm39)	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	177,975,854 (GRCm39)	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	177,925,703 (GRCm39)	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	177,974,737 (GRCm39)	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	177,944,589 (GRCm39)	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	177,897,935 (GRCm39)	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	177,925,819 (GRCm39)	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	177,974,758 (GRCm39)	splice site	probably benign
R9153:Phactr3	UTSW	2	177,925,739 (GRCm39)	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	177,925,856 (GRCm39)	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	177,925,837 (GRCm39)	nonsense	probably null
R9721:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	177,975,896 (GRCm39)	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	177,924,805 (GRCm39)	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	177,911,167 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

Posted On

2017-05-15