Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Phactr4'

560987

Institutional Source

Beutler Lab

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

C330013F19Rik, 3110001B12Rik

MMRRC Submission

045239-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132083233-132149759 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 132085582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 695 (*695R)

Ref Sequence

ENSEMBL: ENSMUSP00000099628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084170] [ENSMUST00000084249] [ENSMUST00000102568] [ENSMUST00000155129]

AlphaFold

Q501J7

Predicted Effect

probably null
Transcript: ENSMUST00000084170
AA Change: *668R

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: *668R

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 null
Transcript: ENSMUST00000084249
AA Change: *705R

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: *705R

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

probably null
Transcript: ENSMUST00000102568
AA Change: *695R

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: *695R

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: ENSMUST00000155129

SMART Domains

Protein: ENSMUSP00000120701
Gene: ENSMUSG00000028896

Domain	Start	End	E-Value	Type
low complexity region	19	26	N/A	INTRINSIC
Pfam:RCC1	34	82	3.9e-13	PFAM
Pfam:RCC1_2	69	98	5.2e-7	PFAM
Pfam:RCC1	85	116	5.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
Aspn	A	G	13: 49,719,967 (GRCm39)	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Btbd3	A	T	2: 138,125,664 (GRCm39)	R283W	probably damaging	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,744,246 (GRCm39)	D362V	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,736,244 (GRCm39)	R81L	probably damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sox2	T	C	3: 34,705,306 (GRCm39)	S248P	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	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
R4871:Phactr4	UTSW	4	132,105,759 (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
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'- TCTTCTCTAAGGGGAGCACAAG -3'
(R):5'- AGCATCATAGTGCTAATCCCAGC -3'

Sequencing Primer
(F):5'- AGGACACGCGTACAAGC -3'
(R):5'- TCATAGTGCTAATCCCAGCTAGAG -3'

Posted On

2019-06-26