Mutagenetix > Incidental Mutation

Incidental Mutation 'R6547:Mppe1'

521327

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

Pgap5

MMRRC Submission

044672-MU

Accession Numbers

Essential gene?

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

Stock #

R6547 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67358119-67378901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67362059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 169 (I169V)

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: I169V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: I169V

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: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,490,251 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,224,757 (GRCm39)	V490E	probably benign	Het
Abca2	G	T	2: 25,323,350 (GRCm39)	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,957,000 (GRCm39)	T276A	probably benign	Het
Anxa7	A	G	14: 20,519,461 (GRCm39)	V119A	probably benign	Het
Arl9	A	G	5: 77,158,257 (GRCm39)		probably null	Het
Atm	T	C	9: 53,351,457 (GRCm39)	Y2964C	probably damaging	Het
Bbs9	T	C	9: 22,425,365 (GRCm39)	Y140H	probably benign	Het
Calcr	A	T	6: 3,717,177 (GRCm39)	D94E	probably damaging	Het
Celsr3	T	A	9: 108,706,327 (GRCm39)	Y937N	probably damaging	Het
Cemip2	A	T	19: 21,822,195 (GRCm39)	T1197S	probably benign	Het
Clca3a1	C	T	3: 144,442,708 (GRCm39)	A779T	probably damaging	Het
Clec9a	T	A	6: 129,393,339 (GRCm39)	V94D	probably benign	Het
Colec12	G	T	18: 9,840,351 (GRCm39)	L57F	probably damaging	Het
Fa2h	T	C	8: 112,074,652 (GRCm39)	Y317C	probably damaging	Het
Flnc	A	G	6: 29,448,607 (GRCm39)	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Hcn2	G	T	10: 79,552,986 (GRCm39)	V162L	probably benign	Het
Hycc1	T	C	5: 24,170,098 (GRCm39)	N417S	probably benign	Het
Kbtbd11	T	A	8: 15,077,641 (GRCm39)	V80E	possibly damaging	Het
Lama4	A	G	10: 38,949,652 (GRCm39)	D915G	probably damaging	Het
Limch1	A	T	5: 67,186,117 (GRCm39)	E806V	probably damaging	Het
Msc	A	C	1: 14,825,969 (GRCm39)	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,319,348 (GRCm39)		probably null	Het
Nr3c2	A	T	8: 77,635,438 (GRCm39)	I180F	possibly damaging	Het
Nrap	G	T	19: 56,339,998 (GRCm39)	H840N	probably benign	Het
Or8a1	T	A	9: 37,641,791 (GRCm39)	M163L	probably benign	Het
Pate13	T	A	9: 35,819,781 (GRCm39)	M15K	probably null	Het
Pdlim1	G	A	19: 40,211,564 (GRCm39)	T243I	probably damaging	Het
Pfkl	T	A	10: 77,831,188 (GRCm39)	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,661,099 (GRCm39)	R426L	probably damaging	Het
Ric1	A	G	19: 29,572,226 (GRCm39)	N674D	probably damaging	Het
Rp1	G	A	1: 4,240,528 (GRCm39)	T875I	unknown	Het
Rtn1	G	T	12: 72,355,535 (GRCm39)	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,546,241 (GRCm39)	I935V	probably benign	Het
Serpina1a	C	T	12: 103,822,180 (GRCm39)	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,000,621 (GRCm39)	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,737,981 (GRCm39)		probably null	Het
Slc2a5	T	A	4: 150,220,076 (GRCm39)	V164D	possibly damaging	Het
Slc4a1	T	A	11: 102,247,561 (GRCm39)	T441S	probably damaging	Het
Stk33	T	C	7: 108,920,042 (GRCm39)	I366V	possibly damaging	Het
Syt14	G	T	1: 192,584,177 (GRCm39)	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,643,531 (GRCm39)	V77D	probably benign	Het
Tefm	T	G	11: 80,031,210 (GRCm39)		probably null	Het
Tekt3	T	A	11: 62,961,304 (GRCm39)	S158T	possibly damaging	Het
Tspan11	T	A	6: 127,926,766 (GRCm39)	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,495,780 (GRCm39)	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612 (GRCm39)	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,880,647 (GRCm39)	Q3495K	probably damaging	Het
Zbtb10	G	A	3: 9,316,763 (GRCm39)	A192T	probably benign	Het
Zfp316	A	T	5: 143,239,952 (GRCm39)	V689D	probably damaging	Het
Zswim1	A	G	2: 164,666,716 (GRCm39)		probably benign	Het
Zswim5	T	C	4: 116,844,100 (GRCm39)	L1046P	probably damaging	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
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
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'- ACACAGTTCAGTGGAAGGGC -3'
(R):5'- GTTACTTATTGCTCCACTGGGG -3'

Sequencing Primer
(F):5'- CCGTAGGCTCTGAGCTTCAC -3'
(R):5'- CCAGGGAGCTAAGTAATTTGCCC -3'

Posted On

2018-06-06