Mutagenetix > Incidental Mutation

Incidental Mutation 'R8399:Mppe1'

647793

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

Pgap5

MMRRC Submission

067762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67358119-67378901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67358946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 341 (T341A)

Ref Sequence

ENSEMBL: ENSMUSP00000072808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000073054] [ENSMUST00000076605]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025402

SMART Domains

Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
G_alpha	89	447	1.18e-172	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073054
AA Change: T341A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: T341A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Metallophos	68	308	3.3e-13	PFAM
transmembrane domain	358	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076605

SMART Domains

Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
G_alpha	22	380	5.02e-176	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,637,289 (GRCm39)	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,104,832 (GRCm39)	T35N	probably benign	Het
Bcl6	T	C	16: 23,791,698 (GRCm39)	M219V	probably benign	Het
Bco2	T	A	9: 50,452,418 (GRCm39)	T217S	probably benign	Het
C1s1	C	T	6: 124,512,252 (GRCm39)	V277I	probably benign	Het
Ccdc162	T	A	10: 41,415,517 (GRCm39)	R2149W	probably damaging	Het
Cers6	T	C	2: 68,692,115 (GRCm39)	F46L	probably benign	Het
Chpf	T	C	1: 75,452,864 (GRCm39)	I359V	probably benign	Het
Chrnb4	A	C	9: 54,951,107 (GRCm39)	L52R	probably benign	Het
Cox6a1	T	C	5: 115,483,958 (GRCm39)	T95A	probably damaging	Het
Def8	T	A	8: 124,182,238 (GRCm39)	Y197*	probably null	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dnaaf3	C	T	7: 4,526,936 (GRCm39)		probably null	Het
Dnm1l	T	A	16: 16,139,536 (GRCm39)	H484L	probably damaging	Het
Eml1	G	A	12: 108,504,390 (GRCm39)	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Hck	A	C	2: 152,980,237 (GRCm39)	K355N	probably damaging	Het
Hexim2	G	T	11: 103,029,329 (GRCm39)	R127L	probably damaging	Het
Hivep2	T	C	10: 14,008,178 (GRCm39)	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,170,686 (GRCm39)	G305E	probably damaging	Het
Ifi207	G	A	1: 173,557,844 (GRCm39)	S298L	unknown	Het
Ighv1-11	A	G	12: 114,576,047 (GRCm39)	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,860,532 (GRCm39)	T12I	unknown	Het
Kctd14	T	C	7: 97,106,811 (GRCm39)	L22P	probably damaging	Het
Klra17	T	C	6: 129,851,900 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Maf	T	A	8: 116,433,251 (GRCm39)	I118F	unknown	Het
Mtmr2	T	A	9: 13,703,363 (GRCm39)	V186E	probably benign	Het
Nedd9	G	T	13: 41,471,950 (GRCm39)	Y176*	probably null	Het
Omd	A	G	13: 49,743,345 (GRCm39)	I132V	possibly damaging	Het
Or12e10	A	C	2: 87,640,568 (GRCm39)	M135L	probably damaging	Het
Or4a39	T	C	2: 89,237,028 (GRCm39)	T132A	probably benign	Het
Pcnx4	T	A	12: 72,620,985 (GRCm39)	M935K	probably benign	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Plcg2	T	C	8: 118,323,101 (GRCm39)	Y719H	probably damaging	Het
Plk4	C	T	3: 40,763,265 (GRCm39)	R479*	probably null	Het
Pms1	T	A	1: 53,307,091 (GRCm39)		probably null	Het
Raph1	C	T	1: 60,528,477 (GRCm39)	S928N	unknown	Het
Rtp4	G	T	16: 23,339,164 (GRCm39)		probably benign	Het
Skor1	C	T	9: 63,052,440 (GRCm39)	V510I	possibly damaging	Het
Smg1	T	C	7: 117,789,794 (GRCm39)	T699A	unknown	Het
Tcp11l1	T	C	2: 104,515,720 (GRCm39)	D381G	probably benign	Het
Tnik	T	A	3: 28,548,159 (GRCm39)	M56K	unknown	Het
Trappc9	G	A	15: 72,924,131 (GRCm39)	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870 (GRCm39)	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,011 (GRCm39)	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,689 (GRCm39)	C104*	probably null	Het
Vmn2r35	A	C	7: 7,819,897 (GRCm39)	S124R	probably benign	Het
Wdr62	T	C	7: 29,957,486 (GRCm39)	E547G	probably damaging	Het
Zfp68	A	T	5: 138,606,082 (GRCm39)	D80E	probably benign	Het

Other mutations in Mppe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Mppe1	APN	18	67,370,515 (GRCm39)	nonsense	probably null
IGL03028:Mppe1	APN	18	67,360,755 (GRCm39)	missense	probably damaging	1.00
R0087:Mppe1	UTSW	18	67,358,775 (GRCm39)	makesense	probably null
R0538:Mppe1	UTSW	18	67,370,548 (GRCm39)	missense	probably damaging	1.00
R0552:Mppe1	UTSW	18	67,370,419 (GRCm39)	critical splice donor site	probably null
R1170:Mppe1	UTSW	18	67,360,777 (GRCm39)	missense	probably damaging	1.00
R1970:Mppe1	UTSW	18	67,362,843 (GRCm39)	missense	probably benign	0.07
R2229:Mppe1	UTSW	18	67,361,082 (GRCm39)	critical splice donor site	probably null
R3874:Mppe1	UTSW	18	67,358,957 (GRCm39)	critical splice acceptor site	probably null
R4194:Mppe1	UTSW	18	67,361,139 (GRCm39)	missense	probably benign	0.27
R4775:Mppe1	UTSW	18	67,359,930 (GRCm39)	missense	possibly damaging	0.96
R4940:Mppe1	UTSW	18	67,361,095 (GRCm39)	missense	probably damaging	1.00
R4974:Mppe1	UTSW	18	67,361,133 (GRCm39)	missense	probably benign
R4979:Mppe1	UTSW	18	67,362,773 (GRCm39)	missense	probably damaging	1.00
R5768:Mppe1	UTSW	18	67,358,889 (GRCm39)	missense	possibly damaging	0.87
R5784:Mppe1	UTSW	18	67,361,098 (GRCm39)	missense	probably benign	0.12
R5895:Mppe1	UTSW	18	67,358,834 (GRCm39)	missense	probably benign	0.00
R6547:Mppe1	UTSW	18	67,362,059 (GRCm39)	missense	probably benign
R7161:Mppe1	UTSW	18	67,362,842 (GRCm39)	missense	probably benign	0.10
R7580:Mppe1	UTSW	18	67,370,488 (GRCm39)	missense	probably damaging	0.99
R7699:Mppe1	UTSW	18	67,358,775 (GRCm39)	makesense	probably null
R7700:Mppe1	UTSW	18	67,358,775 (GRCm39)	makesense	probably null
R7908:Mppe1	UTSW	18	67,362,055 (GRCm39)	missense	probably benign	0.01
R8896:Mppe1	UTSW	18	67,370,472 (GRCm39)	missense	probably damaging	1.00
R9002:Mppe1	UTSW	18	67,358,925 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAGTCACCGGCTCTTCATC -3'
(R):5'- TACAAGTCAGCATATCTTTGGCTTC -3'

Sequencing Primer
(F):5'- ATCTCCTCATGTGCAACCTG -3'
(R):5'- CTTTCTTTTGTCAGTACCTGTGTG -3'

Posted On

2020-09-02