Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Phactr2'

164315

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

039533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1480 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13083461-13350156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13129536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 174 (P174L)

Ref Sequence

ENSEMBL: ENSMUSP00000078637 (fasta)

Gene Model

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

AlphaFold

B1AVP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079698
AA Change: P174L

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: P174L

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

probably benign
Transcript: ENSMUST00000105543
AA Change: P181L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: P181L

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: P244L

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: P244L

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

probably benign
Transcript: ENSMUST00000105546
AA Change: P250L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: P250L

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

probably benign
Transcript: ENSMUST00000105547
AA Change: P248L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: P248L

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
Agbl4	G	A	4: 111,423,914 (GRCm39)	M313I	possibly damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,545,752 (GRCm39)	I907V	unknown	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lias	T	A	5: 65,549,634 (GRCm39)	H39Q	probably benign	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prkcb	T	C	7: 122,193,865 (GRCm39)	W525R	probably damaging	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Serpinc1	A	G	1: 160,822,889 (GRCm39)	E210G	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	probably damaging	Het

Other mutations in Phactr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Phactr2	APN	10	13,121,279 (GRCm39)	missense	probably damaging	1.00
IGL01844:Phactr2	APN	10	13,129,181 (GRCm39)	missense	probably benign	0.05
IGL01893:Phactr2	APN	10	13,122,932 (GRCm39)	missense	probably benign	0.38
IGL02458:Phactr2	APN	10	13,137,572 (GRCm39)	missense	probably damaging	1.00
IGL02612:Phactr2	APN	10	13,121,167 (GRCm39)	missense	probably damaging	0.99
IGL02620:Phactr2	APN	10	13,167,632 (GRCm39)	missense	probably damaging	1.00
IGL03064:Phactr2	APN	10	13,264,457 (GRCm39)	utr 5 prime	probably benign
IGL03493:Phactr2	APN	10	13,133,413 (GRCm39)	missense	probably benign	0.02
R0973:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R0973:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R0974:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R3115:Phactr2	UTSW	10	13,137,645 (GRCm39)	nonsense	probably null
R3116:Phactr2	UTSW	10	13,137,645 (GRCm39)	nonsense	probably null
R3713:Phactr2	UTSW	10	13,264,476 (GRCm39)	start gained	probably benign
R4367:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R4368:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R4371:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R5344:Phactr2	UTSW	10	13,129,360 (GRCm39)	missense	possibly damaging	0.76
R5491:Phactr2	UTSW	10	13,137,590 (GRCm39)	missense	possibly damaging	0.91
R5617:Phactr2	UTSW	10	13,349,809 (GRCm39)	missense	possibly damaging	0.60
R5656:Phactr2	UTSW	10	13,264,447 (GRCm39)	missense	probably benign	0.34
R5895:Phactr2	UTSW	10	13,121,261 (GRCm39)	missense	probably damaging	1.00
R6051:Phactr2	UTSW	10	13,137,555 (GRCm39)	splice site	probably null	0.00
R6317:Phactr2	UTSW	10	13,137,626 (GRCm39)	missense	probably damaging	0.98
R7048:Phactr2	UTSW	10	13,121,168 (GRCm39)	missense	probably benign	0.28
R7101:Phactr2	UTSW	10	13,122,922 (GRCm39)	missense	probably benign	0.00
R7221:Phactr2	UTSW	10	13,122,783 (GRCm39)	missense	possibly damaging	0.58
R7868:Phactr2	UTSW	10	13,108,353 (GRCm39)	missense	probably damaging	1.00
R8408:Phactr2	UTSW	10	13,129,570 (GRCm39)	missense	probably damaging	1.00
R8865:Phactr2	UTSW	10	13,129,476 (GRCm39)	missense	probably benign	0.00
R9095:Phactr2	UTSW	10	13,129,386 (GRCm39)	missense	probably benign	0.26
R9443:Phactr2	UTSW	10	13,122,841 (GRCm39)	missense	probably benign	0.00
R9572:Phactr2	UTSW	10	13,264,561 (GRCm39)	unclassified	probably benign
R9695:Phactr2	UTSW	10	13,349,908 (GRCm39)	missense	unknown
RF023:Phactr2	UTSW	10	13,121,178 (GRCm39)	missense	probably benign	0.10
X0026:Phactr2	UTSW	10	13,133,378 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGAGGCTCTCTATCCCAGTGTC -3'
(R):5'- CACAGCCAGCTTGCCAAGAATG -3'

Sequencing Primer
(F):5'- CTATCCCAGTGTCTGAGAGC -3'
(R):5'- AGGTTTGACCATGCAGGTCAC -3'

Posted On

2014-03-28