Mutagenetix > Incidental Mutation

Incidental Mutation 'R6162:Phospho2'

489908

Institutional Source

Beutler Lab

Gene Symbol

Phospho2

Ensembl Gene

ENSMUSG00000027088

Gene Name

phosphatase, orphan 2

Synonyms

1700048E23Rik, Phos2

MMRRC Submission

044309-MU

Accession Numbers

Essential gene?

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

Stock #

R6162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69620081-69627567 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69626375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 177 (I177K)

Ref Sequence

ENSEMBL: ENSMUSP00000136471 (fasta)

Gene Model

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

AlphaFold

Q9D9M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028494
AA Change: I177K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028494
Gene: ENSMUSG00000027088
AA Change: I177K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112266
AA Change: I177K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107885
Gene: ENSMUSG00000027088
AA Change: I177K

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

probably damaging
Transcript: ENSMUST00000180290
AA Change: I177K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136471
Gene: ENSMUSG00000027088
AA Change: I177K

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,259,047 (GRCm39)	C2924W	probably damaging	Het
Adh4	T	A	3: 138,121,250 (GRCm39)		probably null	Het
Aox3	A	T	1: 58,198,890 (GRCm39)	D695V	possibly damaging	Het
Ccnj	A	G	19: 40,833,606 (GRCm39)	Y221C	probably damaging	Het
Cct2	T	A	10: 116,894,091 (GRCm39)	D221V	probably damaging	Het
Cd5	G	A	19: 10,703,244 (GRCm39)	T138M	probably damaging	Het
Cep78	A	T	19: 15,952,304 (GRCm39)	M307K	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dhrs11	C	T	11: 84,719,605 (GRCm39)	G40D	probably damaging	Het
Dnah10	A	G	5: 124,900,382 (GRCm39)	S3823G	probably benign	Het
Dnai3	T	A	3: 145,750,617 (GRCm39)	I821F	probably damaging	Het
Dock3	A	T	9: 106,841,998 (GRCm39)	Y944N	possibly damaging	Het
Dst	A	G	1: 34,045,318 (GRCm39)	D17G	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Fam20a	G	T	11: 109,573,696 (GRCm39)	S229*	probably null	Het
Fbn1	T	C	2: 125,202,147 (GRCm39)	D1242G	probably damaging	Het
Ggt5	T	A	10: 75,425,626 (GRCm39)	V28D	possibly damaging	Het
Gimap4	A	T	6: 48,667,655 (GRCm39)	I137F	probably damaging	Het
Git2	T	A	5: 114,899,717 (GRCm39)	H212L	probably damaging	Het
Gprc6a	T	A	10: 51,491,008 (GRCm39)	I739F	probably benign	Het
Il1rl2	A	G	1: 40,391,038 (GRCm39)	Y327C	probably damaging	Het
Lmf1	A	G	17: 25,831,368 (GRCm39)	I205V	probably benign	Het
Mipep	C	A	14: 61,024,853 (GRCm39)	P98Q	probably damaging	Het
Mroh2b	A	G	15: 4,944,707 (GRCm39)	D436G	probably damaging	Het
Mtcl2	T	A	2: 156,881,784 (GRCm39)	E756V	possibly damaging	Het
Myorg	A	G	4: 41,497,899 (GRCm39)	V577A	possibly damaging	Het
Notch1	C	T	2: 26,352,207 (GRCm39)	V2035I	probably benign	Het
Or1e28-ps1	T	A	11: 73,615,713 (GRCm39)	I46F	probably damaging	Het
Or2ag16	A	T	7: 106,352,227 (GRCm39)	Y123N	probably damaging	Het
Or4c118	G	T	2: 88,975,114 (GRCm39)	F84L	probably benign	Het
Oxa1l	A	G	14: 54,605,789 (GRCm39)	T395A	probably damaging	Het
Prpf40a	T	C	2: 53,049,317 (GRCm39)	T224A	probably benign	Het
Reln	T	A	5: 22,116,048 (GRCm39)	T2987S	probably damaging	Het
Scn5a	T	A	9: 119,351,621 (GRCm39)	I787F	probably damaging	Het
Sgsm2	A	T	11: 74,782,847 (GRCm39)	D36E	probably damaging	Het
Slc12a3	A	G	8: 95,072,401 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Top3a	T	C	11: 60,636,763 (GRCm39)	Y609C	probably damaging	Het
Trem2	A	G	17: 48,655,694 (GRCm39)	I84V	probably damaging	Het
Vmn2r12	A	G	5: 109,234,430 (GRCm39)	L594P	probably damaging	Het
Zdbf2	A	T	1: 63,319,977 (GRCm39)		probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
R2859:Phospho2	UTSW	2	69,626,195 (GRCm39)	missense	possibly damaging	0.59
R5020:Phospho2	UTSW	2	69,626,323 (GRCm39)	missense	probably damaging	1.00
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'- GTGTTTACCAATCCAGCATCC -3'
(R):5'- AGTTTTATGTTGCCGAGCCC -3'

Sequencing Primer
(F):5'- ATCCAGCATCCTTTGATAGCAGTGG -3'
(R):5'- ACACCTTTCAATTGTTGGCATATCAC -3'

Posted On

2017-10-10