Mutagenetix > Incidental Mutation

Incidental Mutation 'R0974:Phactr2'

83029

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

039103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0974 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

13083461-13350156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13122883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 343 (D343G)

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: D343G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: D343G

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: D350G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: D350G

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

probably benign
Transcript: ENSMUST00000105545
AA Change: D413G

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: D413G

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: D419G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: D419G

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: D417G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: D417G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.5%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	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
R1480:Phactr2	UTSW	10	13,129,536 (GRCm39)	missense	possibly damaging	0.74
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'- AGTGCATAGCAGGTAGCTCTCCTC -3'
(R):5'- CAGAGCACTTCCGTGTTGCATTTC -3'

Sequencing Primer
(F):5'- AGGTAGCTCTCCTCCTACTATG -3'
(R):5'- GCATTTCTCCCTTTCCCATGAAG -3'

Posted On

2013-11-08