Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Acp7'

174256

Institutional Source

Beutler Lab

Gene Symbol

Acp7

Ensembl Gene

ENSMUSG00000037469

Gene Name

acid phosphatase 7, tartrate resistant

Synonyms

Papl, C330005M16Rik

MMRRC Submission

039653-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

R1616 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

28607634-28631332 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28611078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 445 (W445R)

Ref Sequence

ENSEMBL: ENSMUSP00000045437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040112]

AlphaFold

Q8BX37

Predicted Effect

probably damaging
Transcript: ENSMUST00000040112
AA Change: W445R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: W445R

Domain	Start	End	E-Value	Type
Pfam:Pur_ac_phosph_N	90	183	2.2e-19	PFAM
Pfam:Metallophos	192	395	6.4e-27	PFAM
Pfam:Metallophos_C	420	482	4.5e-22	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,311,341		probably benign	Het
A1cf	A	G	19: 31,934,775	E430G	probably damaging	Het
Aacs	T	A	5: 125,484,526		probably null	Het
Acot12	G	A	13: 91,772,767	V331I	probably benign	Het
Actl11	C	A	9: 107,931,936	Q1153K	probably benign	Het
Actr8	A	G	14: 29,982,644	T34A	possibly damaging	Het
Ahnak	A	G	19: 9,008,987	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,472,236	Y388C	probably benign	Het
Apol7a	C	T	15: 77,389,606	G219S	probably damaging	Het
Arid1b	T	A	17: 5,339,294	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,808,715	Q2669R	probably benign	Het
Braf	A	T	6: 39,643,133	S504T	probably benign	Het
Cbl	A	T	9: 44,152,900	Y780N	probably damaging	Het
Cd86	T	C	16: 36,628,976	I20V	probably benign	Het
Cep290	T	G	10: 100,568,836	D2353E	probably benign	Het
Ckmt2	G	A	13: 91,859,209	R289C	probably benign	Het
Col3a1	T	C	1: 45,328,488		probably null	Het
Cyp4f16	T	A	17: 32,542,968	Y163*	probably null	Het
Dimt1	T	C	13: 106,953,450	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,100,112	M2338K	probably benign	Het
Dock4	T	G	12: 40,669,045	I274S	probably damaging	Het
Enthd1	T	C	15: 80,452,385	D616G	probably damaging	Het
Fignl2	T	C	15: 101,054,116	E95G	probably damaging	Het
Foxn1	A	G	11: 78,358,866	M611T	probably benign	Het
Foxs1	T	C	2: 152,932,639	S165G	probably benign	Het
Fzd3	G	T	14: 65,235,507	Q271K	probably benign	Het
Hadhb	A	T	5: 30,166,715	I55F	probably damaging	Het
Hipk3	G	A	2: 104,433,745	Q824*	probably null	Het
Hps1	G	A	19: 42,767,185	R201W	probably damaging	Het
Kif21b	T	C	1: 136,171,685	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,157,246		probably null	Het
Krt90	T	C	15: 101,560,591	E172G	possibly damaging	Het
Lama4	T	G	10: 39,075,450	F1064V	probably damaging	Het
Leng9	A	G	7: 4,148,903	V258A	probably benign	Het
Lgi2	A	C	5: 52,546,638	V217G	probably benign	Het
Lpgat1	T	C	1: 191,763,629	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,746,967	Y374C	probably damaging	Het
Magi2	C	A	5: 20,609,326	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,135,509	I221T	probably benign	Het
Mydgf	A	G	17: 56,179,415	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,776,315	N624S	probably damaging	Het
Myo5c	T	A	9: 75,296,017	M1465K	probably damaging	Het
Nek4	A	T	14: 30,987,137	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,529,037	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,384,437	D572E	probably benign	Het
Nop14	G	T	5: 34,650,413	Q402K	possibly damaging	Het
Npy5r	C	G	8: 66,681,400	C247S	probably damaging	Het
Nrap	T	A	19: 56,389,823	I19F	probably damaging	Het
Olfr1189	A	G	2: 88,592,008	D68G	probably damaging	Het
Olfr1336	T	G	7: 6,460,745	S79A	probably damaging	Het
Olfr574	T	A	7: 102,948,514	N16K	probably damaging	Het
Pcdh9	A	T	14: 93,886,969	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,260,867	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,688,310	H261L	probably benign	Het
Ptch1	G	T	13: 63,539,842	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,565,237	N1742I	possibly damaging	Het
Rab33a	C	T	X: 48,519,644	S15L	probably benign	Het
Ralb	T	C	1: 119,478,014	Y75C	probably damaging	Het
Rassf7	T	A	7: 141,216,732	V2D	probably damaging	Het
Rbm10	A	G	X: 20,645,991	N397S	probably benign	Het
Rbm15	T	C	3: 107,330,881	T734A	probably benign	Het
Rbm8a	G	T	3: 96,631,730		probably benign	Het
Rock2	T	C	12: 16,972,985	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,303	T328S	probably damaging	Het
Sec31a	T	A	5: 100,386,195	K505N	possibly damaging	Het
Selenof	A	G	3: 144,596,881	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,381,441	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,754,481	D522G	probably benign	Het
Slc2a1	T	C	4: 119,136,306	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,128	C319S	probably null	Het
Smad4	T	C	18: 73,640,262	D551G	probably benign	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Stab2	A	T	10: 86,885,718		probably null	Het
Tanc1	A	G	2: 59,785,387	D246G	probably damaging	Het
Tekt3	T	G	11: 63,087,198		probably null	Het
Them5	G	A	3: 94,346,260		probably null	Het
Tlr4	T	A	4: 66,839,480	F170Y	probably damaging	Het
Tmem214	T	G	5: 30,871,563	Y165*	probably null	Het
Tmem94	T	C	11: 115,796,145		probably null	Het
Tom1l1	A	G	11: 90,656,351	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,982,712	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,256,693	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,244	R160*	probably null	Het
Vcan	G	A	13: 89,705,663	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,472,058	T274I	probably damaging	Het
Xylt2	C	T	11: 94,668,209	S445N	probably damaging	Het
Zfp457	A	G	13: 67,296,311	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,832,646	M455L	probably benign	Het

Other mutations in Acp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acp7	APN	7	28614697	missense	possibly damaging	0.79
IGL00808:Acp7	APN	7	28614952	missense	probably damaging	1.00
IGL01085:Acp7	APN	7	28611053	missense	probably damaging	1.00
IGL02123:Acp7	APN	7	28629489	missense	probably benign
IGL02250:Acp7	APN	7	28629710	splice site	probably benign
IGL02255:Acp7	APN	7	28614723	missense	probably damaging	1.00
IGL02904:Acp7	APN	7	28608003	missense	probably benign	0.11
IGL03110:Acp7	APN	7	28611039	missense	probably benign	0.25
R0172:Acp7	UTSW	7	28615124	missense	possibly damaging	0.95
R0360:Acp7	UTSW	7	28611128	splice site	probably benign
R0364:Acp7	UTSW	7	28611128	splice site	probably benign
R1973:Acp7	UTSW	7	28607989	missense	probably damaging	1.00
R2077:Acp7	UTSW	7	28629482	missense	probably damaging	1.00
R2125:Acp7	UTSW	7	28629549	missense	probably damaging	0.99
R2256:Acp7	UTSW	7	28614413	missense	probably damaging	0.98
R2257:Acp7	UTSW	7	28614413	missense	probably damaging	0.98
R2696:Acp7	UTSW	7	28614576	missense	probably benign	0.00
R3103:Acp7	UTSW	7	28610984	critical splice donor site	probably null
R3753:Acp7	UTSW	7	28616660	missense	probably damaging	1.00
R3833:Acp7	UTSW	7	28615094	missense	probably benign	0.00
R4622:Acp7	UTSW	7	28614397	missense	probably damaging	1.00
R4849:Acp7	UTSW	7	28615452	missense	possibly damaging	0.82
R5364:Acp7	UTSW	7	28611023	missense	probably benign	0.25
R5382:Acp7	UTSW	7	28615419	missense	possibly damaging	0.80
R5665:Acp7	UTSW	7	28616543	missense	probably benign	0.31
R5688:Acp7	UTSW	7	28616495	missense	probably benign	0.20
R7278:Acp7	UTSW	7	28630882	missense	unknown
R7295:Acp7	UTSW	7	28629530	missense	possibly damaging	0.83
R7384:Acp7	UTSW	7	28615088	missense	possibly damaging	0.89
R7875:Acp7	UTSW	7	28614727	missense	probably damaging	1.00
R8227:Acp7	UTSW	7	28616648	missense	probably damaging	1.00
R8772:Acp7	UTSW	7	28616484	missense	probably damaging	0.99
R8969:Acp7	UTSW	7	28607957	missense	probably damaging	1.00
R9053:Acp7	UTSW	7	28617191	missense	possibly damaging	0.81
R9199:Acp7	UTSW	7	28617166	missense	probably benign	0.45
R9668:Acp7	UTSW	7	28615137	critical splice acceptor site	probably null
RF006:Acp7	UTSW	7	28614779	missense	possibly damaging	0.94
X0018:Acp7	UTSW	7	28607981	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTTGAGTCCCACATACCCTGAACTA -3'
(R):5'- TGTGTGTTATCATGCCATGCTCTTAACC -3'

Sequencing Primer
(F):5'- TACCCTGAACTAAGCTGTGC -3'
(R):5'- tcctcctgtaacaacctccc -3'

Posted On

2014-04-24