Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Phactr4'

376570

Institutional Source

Beutler Lab

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

C330013F19Rik, 3110001B12Rik

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132083233-132149759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132105759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 102 (S102R)

Ref Sequence

ENSEMBL: ENSMUSP00000119767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084170] [ENSMUST00000084249] [ENSMUST00000102568] [ENSMUST00000136711] [ENSMUST00000152271]

AlphaFold

Q501J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000084170
AA Change: S102R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: S102R

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	88	103	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC
low complexity region	157	182	N/A	INTRINSIC
low complexity region	194	233	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	298	322	N/A	INTRINSIC
low complexity region	471	481	N/A	INTRINSIC
low complexity region	488	497	N/A	INTRINSIC
Blast:RPEL	511	535	8e-7	BLAST
RPEL	548	573	2.53e-8	SMART
RPEL	586	611	2.17e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084249
AA Change: S139R

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: S139R

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
RPEL	73	98	1.35e-3	SMART
low complexity region	125	140	N/A	INTRINSIC
low complexity region	172	186	N/A	INTRINSIC
low complexity region	194	219	N/A	INTRINSIC
low complexity region	231	270	N/A	INTRINSIC
low complexity region	291	301	N/A	INTRINSIC
low complexity region	335	359	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
low complexity region	525	534	N/A	INTRINSIC
Blast:RPEL	548	572	9e-7	BLAST
RPEL	585	610	2.53e-8	SMART
RPEL	623	648	2.17e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102568
AA Change: S129R

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: S129R

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
RPEL	63	88	1.35e-3	SMART
low complexity region	115	130	N/A	INTRINSIC
low complexity region	162	176	N/A	INTRINSIC
low complexity region	184	209	N/A	INTRINSIC
low complexity region	221	260	N/A	INTRINSIC
low complexity region	281	291	N/A	INTRINSIC
low complexity region	325	349	N/A	INTRINSIC
low complexity region	498	508	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
Blast:RPEL	538	562	9e-7	BLAST
RPEL	575	600	2.53e-8	SMART
RPEL	613	638	2.17e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136711
AA Change: S112R

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122194
Gene: ENSMUSG00000066043
AA Change: S112R

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000152271
AA Change: S102R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: S102R

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	88	103	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC
low complexity region	157	182	N/A	INTRINSIC
low complexity region	194	233	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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 (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality, exencephaly, neural tube defects, coloboma, and altered cell cycles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,457,078 (GRCm39)	T270A	probably null	Het
Adgrv1	A	T	13: 81,681,241 (GRCm39)		probably benign	Het
Aldh1b1	A	T	4: 45,803,383 (GRCm39)	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,153,065 (GRCm39)	C220*	probably null	Het
Ank2	T	C	3: 126,753,444 (GRCm39)	Y279C	probably damaging	Het
Anks1	T	C	17: 28,210,351 (GRCm39)	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968 (GRCm39)	T383K	probably benign	Het
Asphd1	G	T	7: 126,547,747 (GRCm39)	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,613,748 (GRCm39)	I9F	probably damaging	Het
Bcl2l11	T	C	2: 127,970,961 (GRCm39)		probably benign	Het
C2cd3	T	G	7: 100,062,581 (GRCm39)	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,274,929 (GRCm39)	V156A	probably damaging	Het
Cdh8	G	C	8: 99,757,536 (GRCm39)	N687K	probably damaging	Het
Cdk19	A	G	10: 40,352,232 (GRCm39)	D338G	probably benign	Het
Cenpf	A	G	1: 189,390,728 (GRCm39)	C1035R	probably damaging	Het
Cep290	A	G	10: 100,384,776 (GRCm39)	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,224,650 (GRCm39)	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,262,300 (GRCm39)		probably benign	Het
Clasrp	T	C	7: 19,324,173 (GRCm39)	D234G	possibly damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddr2	A	G	1: 169,832,340 (GRCm39)	V150A	probably benign	Het
Dennd10	A	G	19: 60,819,252 (GRCm39)	E120G	probably damaging	Het
Dnah7b	T	C	1: 46,120,604 (GRCm39)	S74P	probably benign	Het
Dnttip2	C	A	3: 122,078,750 (GRCm39)	A743E	probably damaging	Het
Dysf	A	T	6: 84,044,005 (GRCm39)	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,462,905 (GRCm39)	E610G	probably damaging	Het
Edem3	T	G	1: 151,679,982 (GRCm39)		probably null	Het
Ext1	G	T	15: 52,955,773 (GRCm39)	N441K	probably benign	Het
Fam118a	A	G	15: 84,942,969 (GRCm39)	R333G	probably damaging	Het
Fat4	C	T	3: 38,945,754 (GRCm39)	T1549I	probably damaging	Het
Fbxo4	A	G	15: 4,005,394 (GRCm39)	V162A	probably damaging	Het
Fgd2	A	G	17: 29,592,223 (GRCm39)	H385R	possibly damaging	Het
Garnl3	A	T	2: 32,977,100 (GRCm39)	M1K	probably null	Het
Gm37267	T	G	1: 180,338,083 (GRCm39)		noncoding transcript	Het
Gpbar1	C	T	1: 74,318,702 (GRCm39)	A315V	probably damaging	Het
Grm2	T	C	9: 106,524,844 (GRCm39)	I624V	probably benign	Het
Hmcn1	T	C	1: 150,468,836 (GRCm39)	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,716,448 (GRCm39)	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,385,241 (GRCm39)	S240P	unknown	Het
Igkv4-91	A	G	6: 68,745,604 (GRCm39)	I98T	probably damaging	Het
Krt72	T	C	15: 101,694,469 (GRCm39)	N142S	probably damaging	Het
Kynu	T	A	2: 43,569,830 (GRCm39)	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,434,898 (GRCm39)		probably benign	Het
Man1a2	C	A	3: 100,524,372 (GRCm39)	V359F	probably damaging	Het
Mast1	T	C	8: 85,647,287 (GRCm39)	I623M	probably damaging	Het
Mb	A	G	15: 76,906,687 (GRCm39)		probably null	Het
Mcm4	A	C	16: 15,452,374 (GRCm39)	L113*	probably null	Het
Mcub	C	T	3: 129,710,685 (GRCm39)	W249*	probably null	Het
Mme	T	A	3: 63,247,453 (GRCm39)	V246E	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	A	G	11: 116,025,098 (GRCm39)	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,455,420 (GRCm39)	M89K	probably benign	Het
Notch4	A	G	17: 34,796,536 (GRCm39)	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,652,941 (GRCm39)	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Or12d12	T	A	17: 37,611,095 (GRCm39)	T73S	probably benign	Het
Or12d14-ps1	A	T	17: 37,673,337 (GRCm39)	I107L	probably benign	Het
Or14a259	A	T	7: 86,012,692 (GRCm39)	N284K	probably damaging	Het
Or5m12	T	A	2: 85,734,715 (GRCm39)	I228F	probably benign	Het
Or8b36	G	T	9: 37,937,822 (GRCm39)	C240F	probably damaging	Het
Or8k28	A	T	2: 86,286,153 (GRCm39)	I154N	possibly damaging	Het
Palld	A	T	8: 62,002,815 (GRCm39)		probably benign	Het
Pcdhga10	T	C	18: 37,881,253 (GRCm39)	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,890,459 (GRCm39)	Y489C	probably damaging	Het
Pgm2	T	C	5: 64,261,237 (GRCm39)	Y244H	probably benign	Het
Plekha5	A	G	6: 140,471,636 (GRCm39)	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,696,013 (GRCm39)	D255G	probably benign	Het
Rgs3	T	C	4: 62,549,532 (GRCm39)	V438A	probably benign	Het
Rnf186	A	G	4: 138,695,254 (GRCm39)	T265A	probably benign	Het
Ror1	T	C	4: 100,283,195 (GRCm39)	F420S	probably benign	Het
Rtkn2	A	G	10: 67,841,463 (GRCm39)	K204E	probably damaging	Het
Rundc1	A	G	11: 101,324,874 (GRCm39)	T527A	probably benign	Het
Samd4	T	C	14: 47,303,920 (GRCm39)	S301P	probably damaging	Het
Scaf1	G	A	7: 44,655,303 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,217,210 (GRCm39)	V1034A	probably benign	Het
Stab2	T	C	10: 86,778,099 (GRCm39)	D743G	probably damaging	Het
Stim1	A	T	7: 102,003,779 (GRCm39)	I71F	probably damaging	Het
Stk17b	T	C	1: 53,796,693 (GRCm39)	D358G	probably benign	Het
Sun2	A	G	15: 79,611,765 (GRCm39)	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,845,091 (GRCm39)	T41S	probably benign	Het
Tead3	T	A	17: 28,552,589 (GRCm39)	E268V	probably damaging	Het
Tead3	A	G	17: 28,553,962 (GRCm39)	S131P	probably benign	Het
Tepsin	A	T	11: 119,982,351 (GRCm39)	M505K	possibly damaging	Het
Trbv28	A	G	6: 41,248,668 (GRCm39)	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,749,142 (GRCm39)	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Uaca	T	C	9: 60,753,283 (GRCm39)	V76A	probably damaging	Het
Vwf	A	T	6: 125,663,425 (GRCm39)	T2789S	probably benign	Het
Yipf4	T	C	17: 74,801,089 (GRCm39)	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp804b	A	T	5: 6,926,479 (GRCm39)	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,538,183 (GRCm39)	G969R	probably damaging	Het

Other mutations in Phactr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Phactr4	APN	4	132,098,303 (GRCm39)	missense	possibly damaging	0.94
IGL01106:Phactr4	APN	4	132,098,116 (GRCm39)	missense	probably benign	0.09
IGL01962:Phactr4	APN	4	132,091,086 (GRCm39)	missense	probably damaging	0.99
IGL02382:Phactr4	APN	4	132,098,152 (GRCm39)	missense	probably damaging	1.00
IGL02466:Phactr4	APN	4	132,104,483 (GRCm39)	splice site	probably benign
IGL02891:Phactr4	APN	4	132,114,334 (GRCm39)	missense	probably damaging	1.00
P0027:Phactr4	UTSW	4	132,098,401 (GRCm39)	missense	probably damaging	1.00
R0317:Phactr4	UTSW	4	132,114,241 (GRCm39)	missense	probably damaging	1.00
R0961:Phactr4	UTSW	4	132,105,731 (GRCm39)	missense	probably benign
R1435:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1441:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1443:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1960:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1961:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R2145:Phactr4	UTSW	4	132,098,095 (GRCm39)	missense	probably damaging	0.98
R3077:Phactr4	UTSW	4	132,125,307 (GRCm39)	start codon destroyed	probably null	0.53
R3423:Phactr4	UTSW	4	132,097,058 (GRCm39)	missense	probably benign	0.38
R3782:Phactr4	UTSW	4	132,095,178 (GRCm39)	splice site	probably null
R3871:Phactr4	UTSW	4	132,104,560 (GRCm39)	missense	probably benign	0.00
R4427:Phactr4	UTSW	4	132,114,352 (GRCm39)	missense	possibly damaging	0.90
R4672:Phactr4	UTSW	4	132,098,017 (GRCm39)	missense	probably damaging	1.00
R5264:Phactr4	UTSW	4	132,098,293 (GRCm39)	missense	probably damaging	0.99
R5558:Phactr4	UTSW	4	132,105,766 (GRCm39)	missense	probably damaging	1.00
R5955:Phactr4	UTSW	4	132,114,220 (GRCm39)	missense	probably damaging	1.00
R6953:Phactr4	UTSW	4	132,104,662 (GRCm39)	missense	possibly damaging	0.66
R7210:Phactr4	UTSW	4	132,085,582 (GRCm39)	makesense	probably null
R7286:Phactr4	UTSW	4	132,104,489 (GRCm39)	critical splice donor site	probably null
R7823:Phactr4	UTSW	4	132,088,930 (GRCm39)	nonsense	probably null
R7826:Phactr4	UTSW	4	132,105,752 (GRCm39)	missense	possibly damaging	0.94
R8696:Phactr4	UTSW	4	132,091,105 (GRCm39)	critical splice acceptor site	probably null
R8841:Phactr4	UTSW	4	132,092,884 (GRCm39)	critical splice donor site	probably null
R9228:Phactr4	UTSW	4	132,097,874 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GTGGAGGTTGACACGATCCTAC -3'
(R):5'- CCTTACCAGGAGAAAGGAGC -3'

Sequencing Primer
(F):5'- GGTTGACACGATCCTACAAAAG -3'
(R):5'- CCATCTAGTTGTTGAGGACCCATG -3'

Posted On

2016-03-17