Mutagenetix > Incidental Mutation

Incidental Mutation 'R6317:Phactr2'

510044

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

044417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6317 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13083461-13350156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13137626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 172 (M172K)

Ref Sequence

ENSEMBL: ENSMUSP00000101184 (fasta)

Gene Model

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

AlphaFold

B1AVP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079698
AA Change: M102K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: M102K

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

possibly damaging
Transcript: ENSMUST00000105543
AA Change: M113K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: M113K

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 damaging
Transcript: ENSMUST00000105545
AA Change: M172K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: M172K

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

possibly damaging
Transcript: ENSMUST00000105546
AA Change: M102K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: M102K

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

Meta Mutation Damage Score

0.0848

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,601,264 (GRCm39)	N206S	probably damaging	Het
Abcf2	A	T	5: 24,774,156 (GRCm39)	Y315*	probably null	Het
Adck1	T	G	12: 88,368,921 (GRCm39)	V133G	probably damaging	Het
Aoc2	T	C	11: 101,216,292 (GRCm39)	F125S	probably damaging	Het
As3mt	A	G	19: 46,713,410 (GRCm39)	D319G	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz1a	T	C	12: 55,001,585 (GRCm39)	Q145R	possibly damaging	Het
Bhlhe22	A	G	3: 18,109,778 (GRCm39)	E276G	probably damaging	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Ces1h	A	G	8: 94,084,046 (GRCm39)	F388S	unknown	Het
Col6a5	T	A	9: 105,766,266 (GRCm39)	N1885Y	probably damaging	Het
Corin	A	T	5: 72,496,388 (GRCm39)	C522S	probably damaging	Het
Csmd1	G	T	8: 16,760,658 (GRCm39)	T159K	possibly damaging	Het
Cspg4b	T	A	13: 113,504,802 (GRCm39)	L1977H	probably benign	Het
Cwc27	T	A	13: 104,940,769 (GRCm39)	K197*	probably null	Het
Cyp20a1	T	C	1: 60,391,283 (GRCm39)	S26P	probably damaging	Het
Daxx	T	A	17: 34,130,949 (GRCm39)	D321E	probably damaging	Het
Gria2	A	C	3: 80,648,311 (GRCm39)	Y142D	possibly damaging	Het
Gspt1	T	C	16: 11,041,072 (GRCm39)		probably null	Het
Ighv1-80	A	T	12: 115,876,265 (GRCm39)	V17D	probably damaging	Het
Ints4	T	A	7: 97,178,425 (GRCm39)	L675*	probably null	Het
Kif13a	C	T	13: 46,980,233 (GRCm39)	R173Q	probably damaging	Het
Map3k2	T	C	18: 32,336,086 (GRCm39)	I91T	probably damaging	Het
Map3k8	A	G	18: 4,348,979 (GRCm39)		probably null	Het
Mcemp1	G	A	8: 3,717,284 (GRCm39)	W101*	probably null	Het
Naca	T	C	10: 127,879,993 (GRCm39)	I1675T	probably benign	Het
Nol9	T	C	4: 152,125,514 (GRCm39)	F155S	probably damaging	Het
Obscn	C	A	11: 58,960,721 (GRCm39)	D3406Y	probably damaging	Het
Obsl1	A	G	1: 75,466,273 (GRCm39)	V1485A	possibly damaging	Het
Oga	A	T	19: 45,760,119 (GRCm39)		probably null	Het
Or8a1	T	C	9: 37,641,725 (GRCm39)	K185E	possibly damaging	Het
Otog	C	A	7: 45,950,639 (GRCm39)	P337H	probably damaging	Het
Patl1	T	C	19: 11,898,242 (GRCm39)	L140P	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Pex11g	G	T	8: 3,514,092 (GRCm39)	D23E	probably damaging	Het
Plce1	G	A	19: 38,512,974 (GRCm39)	W91*	probably null	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Podn	A	G	4: 107,884,357 (GRCm39)	F44S	probably damaging	Het
Polr3e	A	G	7: 120,527,205 (GRCm39)	D87G	possibly damaging	Het
Prmt2	T	A	10: 76,058,351 (GRCm39)	I153F	probably benign	Het
Prpf6	T	C	2: 181,273,229 (GRCm39)	V258A	probably benign	Het
Ptpn21	G	T	12: 98,655,521 (GRCm39)	A482E	probably damaging	Het
Qrich1	A	T	9: 108,411,491 (GRCm39)	N339Y	probably damaging	Het
Rabgap1	T	A	2: 37,432,659 (GRCm39)	V750D	possibly damaging	Het
Reg3d	G	A	6: 78,354,428 (GRCm39)	P58S	probably damaging	Het
Rp1	A	G	1: 4,112,212 (GRCm39)	L1213P	unknown	Het
Sema6b	A	G	17: 56,431,047 (GRCm39)	L872S	probably benign	Het
Serpinb7	T	C	1: 107,379,436 (GRCm39)	I281T	probably damaging	Het
Shank2	T	C	7: 143,838,821 (GRCm39)	V685A	possibly damaging	Het
Slc28a2	A	G	2: 122,284,980 (GRCm39)	I323V	possibly damaging	Het
Slc7a6	A	T	8: 106,919,099 (GRCm39)	I228F	probably damaging	Het
Slc9a9	A	G	9: 94,821,512 (GRCm39)	T300A	possibly damaging	Het
Spta1	A	G	1: 174,068,653 (GRCm39)	N2151S	probably damaging	Het
Sult2a1	T	A	7: 13,569,945 (GRCm39)	I96L	probably benign	Het
Tgm2	T	C	2: 157,966,070 (GRCm39)	D528G	probably benign	Het
Ubl7	T	C	9: 57,818,456 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,839,716 (GRCm39)	I983L	probably benign	Het
Vmn1r172	T	C	7: 23,359,742 (GRCm39)	L209P	probably damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn1r3	T	C	4: 3,184,993 (GRCm39)	S105G	probably benign	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	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
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
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'- CCTTGGATCTCAAAGTTGGGC -3'
(R):5'- TGCTTTCCTCAAGACCAAGAATTG -3'

Sequencing Primer
(F):5'- ATCTCAAAGTTGGGCTGTGCTAC -3'
(R):5'- AGACCAAGAATTGTATGCCTCTTTCC -3'

Posted On

2018-04-02