Mutagenetix > Incidental Mutation

Incidental Mutation 'R2859:Phospho2'

252622

Institutional Source

Beutler Lab

Gene Symbol

Phospho2

Ensembl Gene

ENSMUSG00000027088

Gene Name

phosphatase, orphan 2

Synonyms

1700048E23Rik, Phos2

MMRRC Submission

040449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R2859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69620081-69627567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69626195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 117 (V117A)

Ref Sequence

ENSEMBL: ENSMUSP00000136471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028494] [ENSMUST00000112266] [ENSMUST00000151298] [ENSMUST00000180290]

AlphaFold

Q9D9M5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028494
AA Change: V117A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028494
Gene: ENSMUSG00000027088
AA Change: V117A

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	3	239	1.2e-98	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112266
AA Change: V117A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107885
Gene: ENSMUSG00000027088
AA Change: V117A

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	3	239	9.3e-99	PFAM
Pfam:HAD_2	5	128	8.9e-7	PFAM
Pfam:HAD	5	187	3.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131100

Predicted Effect

probably benign
Transcript: ENSMUST00000151298

SMART Domains

Protein: ENSMUSP00000118021
Gene: ENSMUSG00000027088

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	3	51	2.9e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180290
AA Change: V117A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136471
Gene: ENSMUSG00000027088
AA Change: V117A

Domain	Start	End	E-Value	Type
Pfam:Put_Phosphatase	3	239	9.3e-99	PFAM
Pfam:HAD_2	5	128	8.9e-7	PFAM
Pfam:HAD	5	187	3.2e-15	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,500,288 (GRCm39)	Y1301C	possibly damaging	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Cadm3	A	G	1: 173,174,112 (GRCm39)	S34P	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Fibin	C	T	2: 110,192,542 (GRCm39)	R200H	probably damaging	Het
Fmo9	A	C	1: 166,501,236 (GRCm39)	F237C	probably damaging	Het
Garin3	T	C	11: 46,296,039 (GRCm39)	I137T	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Ism2	T	C	12: 87,346,437 (GRCm39)	M15V	unknown	Het
Itk	T	G	11: 46,235,662 (GRCm39)		probably benign	Het
Mastl	C	A	2: 23,029,979 (GRCm39)	C249F	probably damaging	Het
Mink1	T	C	11: 70,503,334 (GRCm39)	V1143A	probably damaging	Het
Mrgprb4	T	A	7: 47,848,084 (GRCm39)	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Ntmt1	A	G	2: 30,712,377 (GRCm39)	H140R	probably damaging	Het
Or1j12	T	C	2: 36,343,142 (GRCm39)	S182P	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or3a1b	T	C	11: 74,012,808 (GRCm39)	I231T	probably damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Parm1	A	G	5: 91,742,165 (GRCm39)	T178A	possibly damaging	Het
Patl1	T	C	19: 11,901,195 (GRCm39)	F282L	probably damaging	Het
Ppp4r3a	T	C	12: 101,008,906 (GRCm39)		probably null	Het
Pramel29	A	G	4: 143,936,192 (GRCm39)	S23P	probably benign	Het
Rbm17	A	G	2: 11,595,515 (GRCm39)	F230S	possibly damaging	Het
Robo3	C	A	9: 37,339,400 (GRCm39)	G196*	probably null	Het
Samhd1	A	G	2: 156,948,149 (GRCm39)		probably null	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Thbs4	A	G	13: 92,927,216 (GRCm39)	F91S	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Ulk1	A	G	5: 110,942,495 (GRCm39)	L255P	probably damaging	Het
Vmn2r104	T	A	17: 20,268,455 (GRCm39)	I5F	possibly damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Zswim3	T	C	2: 164,662,309 (GRCm39)	L263P	probably damaging	Het

Other mutations in Phospho2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0715:Phospho2	UTSW	2	69,626,540 (GRCm39)	missense	possibly damaging	0.90
R2192:Phospho2	UTSW	2	69,626,451 (GRCm39)	nonsense	probably null
R5020:Phospho2	UTSW	2	69,626,323 (GRCm39)	missense	probably damaging	1.00
R6162:Phospho2	UTSW	2	69,626,375 (GRCm39)	missense	probably damaging	0.99
R9324:Phospho2	UTSW	2	69,625,913 (GRCm39)	missense	probably damaging	0.98
R9629:Phospho2	UTSW	2	69,626,295 (GRCm39)	missense	probably damaging	1.00
X0023:Phospho2	UTSW	2	69,626,159 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGACAGAATTTATGGGCAGAG -3'
(R):5'- TGGGCAGACATCATTTCCACC -3'

Sequencing Primer
(F):5'- GGGCAGAGTCTTTAAATATTTGAGAG -3'
(R):5'- GGCAGACATCATTTCCACCATCAC -3'

Posted On

2014-12-04