Mutagenetix > Incidental Mutation

Incidental Mutation 'R5120:Acp4'

392925

Institutional Source

Beutler Lab

Gene Symbol

Acp4

Ensembl Gene

ENSMUSG00000012777

Gene Name

acid phosphatase 4

Synonyms

Acpt, EG546967

MMRRC Submission

042708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43901572-43906802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43906395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 52 (D52E)

Ref Sequence

ENSEMBL: ENSMUSP00000103578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000118216] [ENSMUST00000124863] [ENSMUST00000107950] [ENSMUST00000188111] [ENSMUST00000188382]

AlphaFold

D3YTS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000012921
AA Change: D52E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777
AA Change: D52E

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	338	3.2e-53	PFAM
transmembrane domain	391	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055858

SMART Domains

Protein: ENSMUSP00000103583
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071296

SMART Domains

Protein: ENSMUSP00000071265
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084937

SMART Domains

Protein: ENSMUSP00000095894
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107945
AA Change: D52E

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

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: D52E

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	324	2.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107948

SMART Domains

Protein: ENSMUSP00000103581
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107949

SMART Domains

Protein: ENSMUSP00000103582
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118216
AA Change: D52E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
AA Change: D52E

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:His_Phos_2	30	338	3.2e-53	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187314

Predicted Effect

probably benign
Transcript: ENSMUST00000124863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147088

Predicted Effect

probably benign
Transcript: ENSMUST00000107950

SMART Domains

Protein: ENSMUSP00000103584
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188111

SMART Domains

Protein: ENSMUSP00000139694
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188382

SMART Domains

Protein: ENSMUSP00000140200
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	53	66	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

100% (97/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,101,061 (GRCm39)	H225R	probably benign	Het
Abcc9	T	A	6: 142,602,344 (GRCm39)	I690F	probably benign	Het
Adam17	T	C	12: 21,393,020 (GRCm39)		probably benign	Het
Adamts15	T	C	9: 30,832,872 (GRCm39)	E221G	probably damaging	Het
Aoc2	A	G	11: 101,216,540 (GRCm39)	T208A	probably benign	Het
Apoa4	T	G	9: 46,154,035 (GRCm39)	I212S	probably damaging	Het
Bptf	A	T	11: 106,964,211 (GRCm39)	M1598K	probably damaging	Het
Camsap3	G	A	8: 3,650,680 (GRCm39)	R209Q	probably damaging	Het
Ccdc171	C	A	4: 83,476,763 (GRCm39)		probably benign	Het
Celsr2	G	C	3: 108,300,436 (GRCm39)	P2875A	probably benign	Het
Cenpb	A	G	2: 131,021,738 (GRCm39)	V20A	probably benign	Het
Cfap61	A	T	2: 145,985,080 (GRCm39)	K975*	probably null	Het
Cfhr4	T	C	1: 139,680,841 (GRCm39)	S226G	probably benign	Het
Col9a2	G	T	4: 120,896,969 (GRCm39)	A20S	unknown	Het
Crnn	A	T	3: 93,056,203 (GRCm39)	I330F	probably benign	Het
Csf3r	C	A	4: 125,929,620 (GRCm39)	P381Q	probably benign	Het
Csmd3	G	A	15: 48,536,891 (GRCm39)	Q104*	probably null	Het
Ctnna1	G	A	18: 35,315,607 (GRCm39)		probably null	Het
Cwf19l2	C	T	9: 3,418,761 (GRCm39)	Q183*	probably null	Het
Ddx60	T	C	8: 62,398,940 (GRCm39)	Y220H	probably benign	Het
Dhh	T	C	15: 98,796,038 (GRCm39)	Q39R	probably benign	Het
Dynlrb2	T	A	8: 117,242,437 (GRCm39)	I89N	possibly damaging	Het
Dytn	T	C	1: 63,662,202 (GRCm39)	E645G	probably benign	Het
Efcab7	A	G	4: 99,754,688 (GRCm39)	T287A	probably damaging	Het
Eogt	A	G	6: 97,111,276 (GRCm39)	V195A	probably benign	Het
Ep400	G	T	5: 110,904,224 (GRCm39)	P125Q	probably damaging	Het
Fasn	A	G	11: 120,702,217 (GRCm39)	V1815A	probably benign	Het
Gm5866	T	C	5: 52,740,224 (GRCm39)		noncoding transcript	Het
Gm8674	C	A	13: 50,055,984 (GRCm39)		noncoding transcript	Het
Gpat4	G	T	8: 23,670,218 (GRCm39)	H270Q	possibly damaging	Het
Grik5	A	G	7: 24,710,065 (GRCm39)	L890P	probably damaging	Het
Gsap	A	G	5: 21,474,934 (GRCm39)	N500S	probably damaging	Het
H2-M10.1	T	C	17: 36,636,048 (GRCm39)	D173G	probably benign	Het
Igfn1	T	A	1: 135,901,240 (GRCm39)	I413F	possibly damaging	Het
Ighv1-52	G	T	12: 115,109,406 (GRCm39)	H17N	probably benign	Het
Kcnu1	T	A	8: 26,424,516 (GRCm39)	D270E	possibly damaging	Het
Kif16b	A	C	2: 142,690,259 (GRCm39)	N274K	probably damaging	Het
Klk1b11	C	T	7: 43,648,446 (GRCm39)	T151I	probably benign	Het
Krtap13	A	G	16: 88,548,458 (GRCm39)	F10S	probably damaging	Het
Large1	A	T	8: 73,585,969 (GRCm39)	I379N	probably damaging	Het
Lhx8	T	C	3: 154,017,332 (GRCm39)	H301R	probably damaging	Het
Lrriq3	T	C	3: 154,835,021 (GRCm39)	V252A	probably benign	Het
Lysmd3	T	A	13: 81,817,311 (GRCm39)	I96N	probably damaging	Het
Mpeg1	C	T	19: 12,438,793 (GRCm39)	Q84*	probably null	Het
Myoz1	C	T	14: 20,700,722 (GRCm39)	G165D	probably benign	Het
Myt1	G	A	2: 181,439,413 (GRCm39)	V312I	probably benign	Het
Ndufb7	T	C	8: 84,293,606 (GRCm39)		probably benign	Het
Numa1	C	T	7: 101,626,644 (GRCm39)	T10M	probably damaging	Het
Or10d1b	T	A	9: 39,613,366 (GRCm39)	H233L	probably benign	Het
Or1e30	A	C	11: 73,677,790 (GRCm39)	I9L	probably benign	Het
Or2g7	A	T	17: 38,378,157 (GRCm39)	I32F	probably damaging	Het
Or4f14d	A	T	2: 111,960,903 (GRCm39)	D84E	probably damaging	Het
Or4k39	T	C	2: 111,239,585 (GRCm39)		noncoding transcript	Het
Osmr	A	T	15: 6,856,756 (GRCm39)	S464T	probably benign	Het
Pak5	G	A	2: 135,925,149 (GRCm39)	H718Y	probably damaging	Het
Pan2	T	A	10: 128,150,864 (GRCm39)		probably null	Het
Pik3r4	T	C	9: 105,546,208 (GRCm39)	S853P	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Polr3gl	T	A	3: 96,485,795 (GRCm39)		probably benign	Het
Psd2	G	A	18: 36,112,863 (GRCm39)	R186Q	possibly damaging	Het
Psd4	T	C	2: 24,295,450 (GRCm39)	V868A	probably benign	Het
Ralgapa2	G	T	2: 146,254,004 (GRCm39)	T852K	probably benign	Het
Rbm43	T	C	2: 51,822,435 (GRCm39)		probably benign	Het
Rps6kl1	C	A	12: 85,186,122 (GRCm39)	G329C	probably damaging	Het
Scaf11	T	C	15: 96,317,423 (GRCm39)	T714A	probably benign	Het
Selenoo	C	A	15: 88,978,508 (GRCm39)	N310K	possibly damaging	Het
Sepsecs	T	C	5: 52,818,003 (GRCm39)	Q258R	probably damaging	Het
Sgcz	T	C	8: 37,993,420 (GRCm39)	S226G	probably benign	Het
Slfn5	A	G	11: 82,851,754 (GRCm39)	K627E	probably damaging	Het
Sos1	A	T	17: 80,715,677 (GRCm39)	F1027I	probably damaging	Het
Ssh1	C	G	5: 114,095,459 (GRCm39)	V228L	possibly damaging	Het
Sugp1	C	A	8: 70,501,317 (GRCm39)	P65T	probably benign	Het
Tas2r106	T	A	6: 131,655,779 (GRCm39)	N24I	probably damaging	Het
Tex10	T	C	4: 48,459,272 (GRCm39)	E534G	possibly damaging	Het
Tmem182	C	T	1: 40,894,061 (GRCm39)	T192I	possibly damaging	Het
Traf7	T	A	17: 24,737,718 (GRCm39)	K51*	probably null	Het
Trap1	C	A	16: 3,861,952 (GRCm39)	R604L	probably damaging	Het
Trim6	T	A	7: 103,877,447 (GRCm39)	L179Q	probably damaging	Het
Ubfd1	T	C	7: 121,670,973 (GRCm39)	S264P	probably damaging	Het
Upk3bl	T	C	5: 136,093,045 (GRCm39)		probably benign	Het
Wdfy3	T	A	5: 102,015,972 (GRCm39)	Q2601L	possibly damaging	Het
Wdr89	A	G	12: 75,679,412 (GRCm39)	Y281H	probably damaging	Het
Zfp286	A	T	11: 62,671,551 (GRCm39)	M174K	probably benign	Het
Zmym1	T	C	4: 126,945,230 (GRCm39)		probably null	Het

Other mutations in Acp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Acp4	APN	7	43,902,875 (GRCm39)	missense	possibly damaging	0.56
IGL01067:Acp4	APN	7	43,902,876 (GRCm39)	missense	probably benign	0.08
IGL01739:Acp4	APN	7	43,906,210 (GRCm39)	nonsense	probably null
IGL02013:Acp4	APN	7	43,904,505 (GRCm39)	missense	probably benign	0.13
IGL02225:Acp4	APN	7	43,906,165 (GRCm39)	splice site	probably null
IGL02648:Acp4	APN	7	43,904,414 (GRCm39)	unclassified	probably benign
R0764:Acp4	UTSW	7	43,901,738 (GRCm39)	unclassified	probably benign
R1328:Acp4	UTSW	7	43,906,516 (GRCm39)	splice site	probably null
R1411:Acp4	UTSW	7	43,906,267 (GRCm39)	unclassified	probably benign
R1754:Acp4	UTSW	7	43,904,428 (GRCm39)	missense	probably benign	0.09
R2163:Acp4	UTSW	7	43,905,400 (GRCm39)	missense	probably damaging	1.00
R2193:Acp4	UTSW	7	43,902,993 (GRCm39)	missense	probably benign	0.01
R7890:Acp4	UTSW	7	43,903,528 (GRCm39)	missense	probably damaging	1.00
R8557:Acp4	UTSW	7	43,905,272 (GRCm39)	critical splice donor site	probably null
R8915:Acp4	UTSW	7	43,903,751 (GRCm39)	missense	possibly damaging	0.64
R8959:Acp4	UTSW	7	43,906,399 (GRCm39)	missense	possibly damaging	0.95
R9685:Acp4	UTSW	7	43,906,733 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCGGCCCAGTTCTAGCTG -3'
(R):5'- CTCTCTGTGGAAATGGCTGAG -3'

Sequencing Primer
(F):5'- CCAGTTCTAGCTGCTGGC -3'
(R):5'- ACACCGTCGGACCCTTG -3'

Posted On

2016-06-15