Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Phlpp2'

227436

Institutional Source

Beutler Lab

Gene Symbol

Phlpp2

Ensembl Gene

ENSMUSG00000031732

Gene Name

PH domain and leucine rich repeat protein phosphatase 2

Synonyms

C130044A18Rik, Phlppl

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110595174-110671303 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110655124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 605 (S605P)

Ref Sequence

ENSEMBL: ENSMUSP00000034175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034175] [ENSMUST00000179721]

AlphaFold

Q8BXA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034175
AA Change: S605P

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

SMART Domains

Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: S605P

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Blast:PH	148	247	3e-61	BLAST
LRR	295	314	1.12e2	SMART
Pfam:LRR_7	319	335	3.5e-2	PFAM
LRR	341	363	2.82e0	SMART
LRR	364	387	9.75e0	SMART
LRR	456	479	2.68e1	SMART
LRR	498	517	1.35e1	SMART
LRR	521	540	5.59e1	SMART
LRR	544	563	2.79e1	SMART
LRR	569	589	1.62e1	SMART
LRR	590	609	1.67e1	SMART
LRR	616	641	1.33e2	SMART
LRR	640	659	1.4e1	SMART
LRR_TYP	664	687	6.78e-3	SMART
LRR	709	733	2.15e2	SMART
PP2Cc	772	1028	2.98e-30	SMART
low complexity region	1061	1095	N/A	INTRINSIC
Blast:PP2Cc	1109	1175	8e-15	BLAST
low complexity region	1297	1315	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179721
AA Change: S640P

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: S640P

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	75	92	N/A	INTRINSIC
Blast:PH	183	282	4e-61	BLAST
LRR	330	349	1.12e2	SMART
LRR	376	398	2.82e0	SMART
LRR	399	422	9.75e0	SMART
LRR	491	514	2.68e1	SMART
LRR	533	552	1.35e1	SMART
LRR	556	575	5.59e1	SMART
LRR	579	598	2.79e1	SMART
LRR	604	624	1.62e1	SMART
LRR	625	644	1.67e1	SMART
LRR	651	676	1.33e2	SMART
LRR	675	694	1.4e1	SMART
LRR_TYP	699	722	6.78e-3	SMART
LRR	744	768	2.15e2	SMART
PP2Cc	807	1063	2.98e-30	SMART
low complexity region	1096	1130	N/A	INTRINSIC
Blast:PP2Cc	1144	1210	8e-15	BLAST
low complexity region	1332	1350	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	C	T	11: 105,867,449 (GRCm39)	Q484*	probably null	Het
Ackr3	T	C	1: 90,141,703 (GRCm39)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,387,658 (GRCm39)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,794,559 (GRCm39)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,172,887 (GRCm39)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,480,981 (GRCm39)	I176V	probably benign	Het
Arhgap45	A	G	10: 79,863,014 (GRCm39)	Y730C	probably damaging	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Asxl2	A	G	12: 3,543,779 (GRCm39)	E316G	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Calu	A	G	6: 29,372,614 (GRCm39)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Cenpf	T	C	1: 189,389,098 (GRCm39)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,852,384 (GRCm39)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,243,797 (GRCm39)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dhx33	G	A	11: 70,890,669 (GRCm39)	R177W	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,891,738 (GRCm39)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,496,855 (GRCm39)	I3134V	probably benign	Het
Dock3	A	G	9: 106,870,662 (GRCm39)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,120,606 (GRCm39)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,396,264 (GRCm39)	F392S	probably benign	Het
Eogt	T	C	6: 97,108,337 (GRCm39)	T235A	probably benign	Het
Etv3	T	C	3: 87,443,526 (GRCm39)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,021,555 (GRCm39)	R466H	unknown	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,536,416 (GRCm39)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,895,303 (GRCm39)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gpbp1	A	T	13: 111,589,941 (GRCm39)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,337,536 (GRCm39)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,501,204 (GRCm39)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,788,733 (GRCm39)	D69G	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Mff	T	A	1: 82,729,421 (GRCm39)	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,740 (GRCm39)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,332,271 (GRCm39)	S21N	probably benign	Het
Obscn	G	C	11: 58,960,107 (GRCm39)	I3253M	probably damaging	Het
Obscn	T	C	11: 59,023,478 (GRCm39)	D633G	probably damaging	Het
Olr1	C	T	6: 129,479,057 (GRCm39)	V54I	probably benign	Het
Or10j3b	A	T	1: 173,043,377 (GRCm39)	D53V	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,216,402 (GRCm39)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,147,716 (GRCm39)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,794,099 (GRCm39)	E88G	probably benign	Het
Rpn1	T	A	6: 88,077,944 (GRCm39)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,781,332 (GRCm39)	I165N	probably damaging	Het
Sash1	A	G	10: 8,632,461 (GRCm39)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,371,207 (GRCm39)	N288K	probably benign	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Shank2	C	A	7: 143,963,277 (GRCm39)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,834,663 (GRCm39)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,354,800 (GRCm39)	I143T	probably null	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Spata31g1	A	T	4: 42,974,171 (GRCm39)	D1168V	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	C	10: 23,837,071 (GRCm39)	Q227P	probably benign	Het
Tasor	T	A	14: 27,183,170 (GRCm39)	I543K	probably benign	Het
Tecta	G	T	9: 42,248,575 (GRCm39)	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmem130	T	A	5: 144,692,084 (GRCm39)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,346,195 (GRCm39)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,435,644 (GRCm39)	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,745,461 (GRCm39)		probably null	Het
Trim43a	A	G	9: 88,468,147 (GRCm39)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,855,103 (GRCm39)	T1921A	probably damaging	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,553,316 (GRCm39)	N896T	probably benign	Het
Unc80	G	A	1: 66,718,903 (GRCm39)		probably null	Het
Upb1	A	G	10: 75,260,347 (GRCm39)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,780,180 (GRCm39)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,184,185 (GRCm39)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,207,462 (GRCm39)	H286Q	possibly damaging	Het

Other mutations in Phlpp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Phlpp2	APN	8	110,652,422 (GRCm39)	missense	probably benign	0.01
IGL01363:Phlpp2	APN	8	110,663,729 (GRCm39)	missense	probably benign	0.22
IGL01535:Phlpp2	APN	8	110,660,697 (GRCm39)	missense	possibly damaging	0.82
IGL01815:Phlpp2	APN	8	110,666,491 (GRCm39)	missense	probably benign
IGL02105:Phlpp2	APN	8	110,631,040 (GRCm39)	missense	probably damaging	1.00
IGL02257:Phlpp2	APN	8	110,646,731 (GRCm39)	missense	possibly damaging	0.88
IGL02318:Phlpp2	APN	8	110,666,505 (GRCm39)	missense	probably benign	0.04
IGL02500:Phlpp2	APN	8	110,640,250 (GRCm39)	missense	probably benign
IGL03356:Phlpp2	APN	8	110,662,249 (GRCm39)	missense	probably benign	0.00
IGL03366:Phlpp2	APN	8	110,667,467 (GRCm39)	missense	probably benign	0.44
R0142:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0144:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0374:Phlpp2	UTSW	8	110,634,145 (GRCm39)	missense	probably damaging	1.00
R0420:Phlpp2	UTSW	8	110,666,567 (GRCm39)	missense	probably damaging	0.99
R0426:Phlpp2	UTSW	8	110,655,095 (GRCm39)	missense	probably benign	0.01
R0477:Phlpp2	UTSW	8	110,622,138 (GRCm39)	critical splice acceptor site	probably null
R0529:Phlpp2	UTSW	8	110,603,603 (GRCm39)	missense	probably benign	0.00
R0605:Phlpp2	UTSW	8	110,659,843 (GRCm39)	missense	probably benign	0.00
R0655:Phlpp2	UTSW	8	110,622,219 (GRCm39)	missense	probably benign	0.00
R0833:Phlpp2	UTSW	8	110,663,738 (GRCm39)	missense	probably damaging	1.00
R0836:Phlpp2	UTSW	8	110,663,738 (GRCm39)	missense	probably damaging	1.00
R1394:Phlpp2	UTSW	8	110,603,662 (GRCm39)	nonsense	probably null
R1417:Phlpp2	UTSW	8	110,667,313 (GRCm39)	nonsense	probably null
R1602:Phlpp2	UTSW	8	110,660,655 (GRCm39)	missense	possibly damaging	0.96
R1650:Phlpp2	UTSW	8	110,660,587 (GRCm39)	splice site	probably benign
R1815:Phlpp2	UTSW	8	110,666,855 (GRCm39)	missense	probably damaging	1.00
R2045:Phlpp2	UTSW	8	110,634,232 (GRCm39)	missense	probably damaging	1.00
R2072:Phlpp2	UTSW	8	110,655,124 (GRCm39)	missense	possibly damaging	0.88
R2075:Phlpp2	UTSW	8	110,655,124 (GRCm39)	missense	possibly damaging	0.88
R2433:Phlpp2	UTSW	8	110,666,634 (GRCm39)	missense	probably damaging	1.00
R3028:Phlpp2	UTSW	8	110,634,245 (GRCm39)	missense	probably damaging	1.00
R4611:Phlpp2	UTSW	8	110,603,515 (GRCm39)	missense	possibly damaging	0.79
R4718:Phlpp2	UTSW	8	110,667,452 (GRCm39)	missense	probably benign	0.31
R4739:Phlpp2	UTSW	8	110,667,052 (GRCm39)	missense	probably damaging	1.00
R4857:Phlpp2	UTSW	8	110,603,642 (GRCm39)	missense	probably damaging	1.00
R5020:Phlpp2	UTSW	8	110,666,714 (GRCm39)	missense	probably damaging	1.00
R5047:Phlpp2	UTSW	8	110,640,251 (GRCm39)	missense	probably benign	0.04
R5074:Phlpp2	UTSW	8	110,652,461 (GRCm39)	missense	probably damaging	0.99
R5330:Phlpp2	UTSW	8	110,660,667 (GRCm39)	missense	probably damaging	0.99
R5663:Phlpp2	UTSW	8	110,630,976 (GRCm39)	missense	probably benign	0.01
R5668:Phlpp2	UTSW	8	110,655,205 (GRCm39)	missense	possibly damaging	0.67
R6433:Phlpp2	UTSW	8	110,661,317 (GRCm39)	missense	probably benign
R6470:Phlpp2	UTSW	8	110,663,826 (GRCm39)	missense	probably benign	0.45
R6804:Phlpp2	UTSW	8	110,655,197 (GRCm39)	missense	probably damaging	1.00
R7012:Phlpp2	UTSW	8	110,603,486 (GRCm39)	missense	possibly damaging	0.95
R7183:Phlpp2	UTSW	8	110,666,585 (GRCm39)	missense	probably damaging	1.00
R7257:Phlpp2	UTSW	8	110,666,820 (GRCm39)	missense	probably benign
R7312:Phlpp2	UTSW	8	110,666,785 (GRCm39)	missense	probably damaging	0.96
R7349:Phlpp2	UTSW	8	110,655,278 (GRCm39)	missense	probably damaging	0.98
R7801:Phlpp2	UTSW	8	110,652,474 (GRCm39)	missense	possibly damaging	0.56
R8059:Phlpp2	UTSW	8	110,622,189 (GRCm39)	missense	probably benign	0.00
R8174:Phlpp2	UTSW	8	110,595,321 (GRCm39)	missense	unknown
R8242:Phlpp2	UTSW	8	110,666,834 (GRCm39)	missense	probably benign	0.03
R8488:Phlpp2	UTSW	8	110,640,202 (GRCm39)	missense	probably benign
R8688:Phlpp2	UTSW	8	110,631,012 (GRCm39)	missense	probably damaging	1.00
R8843:Phlpp2	UTSW	8	110,652,431 (GRCm39)	missense	probably benign	0.18
R9154:Phlpp2	UTSW	8	110,666,590 (GRCm39)	missense	possibly damaging	0.82
R9556:Phlpp2	UTSW	8	110,666,758 (GRCm39)	missense	probably benign
R9737:Phlpp2	UTSW	8	110,663,714 (GRCm39)	missense	probably damaging	0.99
R9781:Phlpp2	UTSW	8	110,662,178 (GRCm39)	missense	possibly damaging	0.95
R9786:Phlpp2	UTSW	8	110,660,655 (GRCm39)	nonsense	probably null
X0018:Phlpp2	UTSW	8	110,639,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGCCATTACAGAATGCTAG -3'
(R):5'- TCACTCACTCACCTTGCAGG -3'

Sequencing Primer
(F):5'- GAAAAATAGCCATGCCTGTGTTCC -3'
(R):5'- TCACTCACCTTGCAGGGAAGG -3'

Posted On

2014-09-17