Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Acp7'

444337

Institutional Source

Beutler Lab

Gene Symbol

Acp7

Ensembl Gene

ENSMUSG00000037469

Gene Name

acid phosphatase 7, tartrate resistant

Synonyms

C330005M16Rik, Papl

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28306701-28330757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28315968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 206 (K206M)

Ref Sequence

ENSEMBL: ENSMUSP00000045437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040112] [ENSMUST00000159418] [ENSMUST00000159560]

AlphaFold

Q8BX37

Predicted Effect

probably benign
Transcript: ENSMUST00000040112
AA Change: K206M

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045437
Gene: ENSMUSG00000037469
AA Change: K206M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159418

Predicted Effect

probably benign
Transcript: ENSMUST00000159560

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,751,456 (GRCm39)	A1103S	probably benign	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	probably null	Het

Other mutations in Acp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Acp7	APN	7	28,314,122 (GRCm39)	missense	possibly damaging	0.79
IGL00808:Acp7	APN	7	28,314,377 (GRCm39)	missense	probably damaging	1.00
IGL01085:Acp7	APN	7	28,310,478 (GRCm39)	missense	probably damaging	1.00
IGL02123:Acp7	APN	7	28,328,914 (GRCm39)	missense	probably benign
IGL02250:Acp7	APN	7	28,329,135 (GRCm39)	splice site	probably benign
IGL02255:Acp7	APN	7	28,314,148 (GRCm39)	missense	probably damaging	1.00
IGL02904:Acp7	APN	7	28,307,428 (GRCm39)	missense	probably benign	0.11
IGL03110:Acp7	APN	7	28,310,464 (GRCm39)	missense	probably benign	0.25
R0172:Acp7	UTSW	7	28,314,549 (GRCm39)	missense	possibly damaging	0.95
R0360:Acp7	UTSW	7	28,310,553 (GRCm39)	splice site	probably benign
R0364:Acp7	UTSW	7	28,310,553 (GRCm39)	splice site	probably benign
R1616:Acp7	UTSW	7	28,310,503 (GRCm39)	missense	probably damaging	1.00
R1973:Acp7	UTSW	7	28,307,414 (GRCm39)	missense	probably damaging	1.00
R2077:Acp7	UTSW	7	28,328,907 (GRCm39)	missense	probably damaging	1.00
R2125:Acp7	UTSW	7	28,328,974 (GRCm39)	missense	probably damaging	0.99
R2256:Acp7	UTSW	7	28,313,838 (GRCm39)	missense	probably damaging	0.98
R2257:Acp7	UTSW	7	28,313,838 (GRCm39)	missense	probably damaging	0.98
R2696:Acp7	UTSW	7	28,314,001 (GRCm39)	missense	probably benign	0.00
R3103:Acp7	UTSW	7	28,310,409 (GRCm39)	critical splice donor site	probably null
R3753:Acp7	UTSW	7	28,316,085 (GRCm39)	missense	probably damaging	1.00
R3833:Acp7	UTSW	7	28,314,519 (GRCm39)	missense	probably benign	0.00
R4622:Acp7	UTSW	7	28,313,822 (GRCm39)	missense	probably damaging	1.00
R4849:Acp7	UTSW	7	28,314,877 (GRCm39)	missense	possibly damaging	0.82
R5364:Acp7	UTSW	7	28,310,448 (GRCm39)	missense	probably benign	0.25
R5382:Acp7	UTSW	7	28,314,844 (GRCm39)	missense	possibly damaging	0.80
R5688:Acp7	UTSW	7	28,315,920 (GRCm39)	missense	probably benign	0.20
R7278:Acp7	UTSW	7	28,330,307 (GRCm39)	missense	unknown
R7295:Acp7	UTSW	7	28,328,955 (GRCm39)	missense	possibly damaging	0.83
R7384:Acp7	UTSW	7	28,314,513 (GRCm39)	missense	possibly damaging	0.89
R7875:Acp7	UTSW	7	28,314,152 (GRCm39)	missense	probably damaging	1.00
R8227:Acp7	UTSW	7	28,316,073 (GRCm39)	missense	probably damaging	1.00
R8772:Acp7	UTSW	7	28,315,909 (GRCm39)	missense	probably damaging	0.99
R8969:Acp7	UTSW	7	28,307,382 (GRCm39)	missense	probably damaging	1.00
R9053:Acp7	UTSW	7	28,316,616 (GRCm39)	missense	possibly damaging	0.81
R9199:Acp7	UTSW	7	28,316,591 (GRCm39)	missense	probably benign	0.45
R9668:Acp7	UTSW	7	28,314,562 (GRCm39)	critical splice acceptor site	probably null
RF006:Acp7	UTSW	7	28,314,204 (GRCm39)	missense	possibly damaging	0.94
X0018:Acp7	UTSW	7	28,307,406 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTATAGGAACCTCACATCTGGG -3'
(R):5'- GCTCTTCTGTGTGGAACAAGG -3'

Sequencing Primer
(F):5'- GAACCTCACATCTGGGTCCAG -3'
(R):5'- TCATCCTGGGCTACGTAGAAAGTC -3'

Posted On

2016-11-09