Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Mppe1'

557616

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

Pgap5

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

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

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67358119-67378901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67362842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 131 (A131V)

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: A131V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: A131V

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,964,968 (GRCm39)	Q443L	probably benign	Het
Acad12	A	T	5: 121,745,436 (GRCm39)	M285K	probably damaging	Het
Afdn	T	A	17: 14,109,208 (GRCm39)	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,155,535 (GRCm39)	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,456,534 (GRCm39)	E526G	probably damaging	Het
Car13	A	G	3: 14,710,268 (GRCm39)	D70G	probably benign	Het
Castor2	C	A	5: 134,164,029 (GRCm39)	T75N	probably damaging	Het
Ccdc127	A	T	13: 74,500,996 (GRCm39)	L4F	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ccr10	A	G	11: 101,065,104 (GRCm39)	I142T	probably benign	Het
Cep126	C	T	9: 8,087,400 (GRCm39)	V1005M	probably benign	Het
Chil6	A	G	3: 106,301,728 (GRCm39)	I124T	probably benign	Het
Coq8a	A	G	1: 179,997,906 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,476 (GRCm39)	K174N	probably damaging	Het
Dapk1	T	C	13: 60,844,209 (GRCm39)	V76A	possibly damaging	Het
Disp1	A	G	1: 182,869,189 (GRCm39)	M1077T	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnah9	T	A	11: 65,746,198 (GRCm39)	K3972*	probably null	Het
Dnai4	G	A	4: 102,953,813 (GRCm39)	P129S	probably benign	Het
Dusp7	T	A	9: 106,246,114 (GRCm39)	S40T	unknown	Het
Emg1	T	C	6: 124,682,712 (GRCm39)	T88A	probably benign	Het
Fbxo5	A	G	10: 5,752,043 (GRCm39)	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,055,048 (GRCm39)	D167A	probably damaging	Het
Fes	A	T	7: 80,030,609 (GRCm39)	V562E	probably damaging	Het
Foxj1	C	G	11: 116,223,234 (GRCm39)	G190R	probably damaging	Het
Gdf15	T	G	8: 71,083,992 (GRCm39)	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,314,579 (GRCm39)	V355F	probably damaging	Het
Herc4	T	A	10: 63,144,194 (GRCm39)	Y776N	probably benign	Het
Hspg2	G	A	4: 137,242,030 (GRCm39)	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,192,762 (GRCm39)	Y56*	probably null	Het
Itpr1	C	T	6: 108,363,601 (GRCm39)	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,103,677 (GRCm39)	I519K	probably benign	Het
Kcnh5	T	A	12: 74,944,483 (GRCm39)	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,755,323 (GRCm39)	Y103H	probably damaging	Het
Knl1	A	G	2: 118,901,266 (GRCm39)	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,102,200 (GRCm39)	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,655,809 (GRCm39)	P138L	probably benign	Het
Lhx1	G	A	11: 84,410,698 (GRCm39)	P300S	probably damaging	Het
Neb	A	T	2: 52,161,604 (GRCm39)	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,708,546 (GRCm39)	F740L	probably benign	Het
Nop10	A	G	2: 112,092,391 (GRCm39)	N8S	probably benign	Het
Opalin	T	A	19: 41,058,374 (GRCm39)	T20S	possibly damaging	Het
Or8h7	A	C	2: 86,720,993 (GRCm39)	H175Q	probably benign	Het
Pask	C	T	1: 93,238,627 (GRCm39)	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,948,716 (GRCm39)	E44V	probably damaging	Het
Pde1a	A	G	2: 79,695,558 (GRCm39)	M463T	probably benign	Het
Pde6a	A	T	18: 61,414,596 (GRCm39)	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,033,850 (GRCm39)	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,050,658 (GRCm39)	N234S	probably damaging	Het
Ptprm	T	A	17: 67,116,622 (GRCm39)	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,288,064 (GRCm39)	D30Y	probably benign	Het
Rassf10	A	T	7: 112,553,707 (GRCm39)	I103F	probably damaging	Het
Rfc4	A	G	16: 22,934,183 (GRCm39)	I206T	probably benign	Het
Rhcg	A	G	7: 79,267,189 (GRCm39)	F29S	probably damaging	Het
Sec11c	A	G	18: 65,945,803 (GRCm39)	I89V	probably benign	Het
Serac1	T	C	17: 6,115,351 (GRCm39)	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,200,892 (GRCm39)	N175S	probably null	Het
Slc25a19	C	T	11: 115,507,373 (GRCm39)	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,307,303 (GRCm39)	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,534,126 (GRCm39)		probably benign	Het
Spats1	T	A	17: 45,760,095 (GRCm39)	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,689 (GRCm39)	T219A	probably benign	Het
Spink13	A	G	18: 62,748,026 (GRCm39)	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581 (GRCm39)	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859 (GRCm39)	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,300,633 (GRCm39)	*439Q	probably null	Het
Tmed2	T	A	5: 124,684,983 (GRCm39)	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,637,470 (GRCm39)	Y370*	probably null	Het
Ttn	A	G	2: 76,642,588 (GRCm39)	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,253,292 (GRCm39)	M381K	probably damaging	Het
Wdr26	A	G	1: 181,030,695 (GRCm39)	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,309,143 (GRCm39)	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,223,251 (GRCm39)	L173P	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
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
R8399:Mppe1	UTSW	18	67,358,946 (GRCm39)	missense	probably benign	0.17
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'- GGTTGCAAGTTTGAGGCCAG -3'
(R):5'- AACTCTACTGTATTTACCACAGCTG -3'

Sequencing Primer
(F):5'- TCAGCCAGGTCTGCATAGTGAG -3'
(R):5'- ACCACAGCTGCTAATTGGATGTG -3'

Posted On

2019-06-26