Mutagenetix > Incidental Mutation

Incidental Mutation 'R2193:Acp4'

238266

Institutional Source

Beutler Lab

Gene Symbol

Acp4

Ensembl Gene

ENSMUSG00000012777

Gene Name

acid phosphatase 4

Synonyms

Acpt, EG546967

MMRRC Submission

040195-MU

Accession Numbers

Essential gene?

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

Stock #

R2193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43901572-43906802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43902993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 289 (R289G)

Ref Sequence

ENSEMBL: ENSMUSP00000012921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012921] [ENSMUST00000055858] [ENSMUST00000071296] [ENSMUST00000084937] [ENSMUST00000107945] [ENSMUST00000107948] [ENSMUST00000107949] [ENSMUST00000118216] [ENSMUST00000146155] [ENSMUST00000186606] [ENSMUST00000137702] [ENSMUST00000185481] [ENSMUST00000107950] [ENSMUST00000145653] [ENSMUST00000188111] [ENSMUST00000188382] [ENSMUST00000191537] [ENSMUST00000187524]

AlphaFold

D3YTS9

Predicted Effect

probably benign
Transcript: ENSMUST00000012921
AA Change: R289G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000012921
Gene: ENSMUSG00000012777
AA Change: R289G

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 benign
Transcript: ENSMUST00000107945
AA Change: R321G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103578
Gene: ENSMUSG00000012777
AA Change: R321G

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 benign
Transcript: ENSMUST00000118216
AA Change: R321G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112922
Gene: ENSMUSG00000012777
AA Change: R321G

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: ENSMUST00000137742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125318

Predicted Effect

probably benign
Transcript: ENSMUST00000146155

SMART Domains

Protein: ENSMUSP00000117318
Gene: ENSMUSG00000045411

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186606

SMART Domains

Protein: ENSMUSP00000139441
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137702

SMART Domains

Protein: ENSMUSP00000119445
Gene: ENSMUSG00000045411

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185481

SMART Domains

Protein: ENSMUSP00000139913
Gene: ENSMUSG00000045411

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

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: ENSMUST00000145653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188476

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191537

SMART Domains

Protein: ENSMUSP00000141077
Gene: ENSMUSG00000045411

Domain	Start	End	E-Value	Type
low complexity region	50	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187524

SMART Domains

Protein: ENSMUSP00000140017
Gene: ENSMUSG00000045411

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bfar	A	G	16: 13,515,335 (GRCm39)	N183D	probably benign	Het
Cdca3	A	G	6: 124,808,409 (GRCm39)	T69A	probably damaging	Het
Ces1b	A	T	8: 93,806,505 (GRCm39)	C14S	probably benign	Het
Clcn3	T	A	8: 61,382,221 (GRCm39)	I456F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcpp2	A	C	17: 24,119,393 (GRCm39)	D69A	probably damaging	Het
Dlgap2	T	A	8: 14,793,431 (GRCm39)	I475N	possibly damaging	Het
Dnah6	T	A	6: 73,115,623 (GRCm39)	M1592L	probably damaging	Het
Dscaml1	A	G	9: 45,596,532 (GRCm39)	Q792R	probably benign	Het
Eif2ak4	A	G	2: 118,252,747 (GRCm39)	I440V	probably benign	Het
Frrs1	T	C	3: 116,671,994 (GRCm39)	S31P	probably damaging	Het
Isoc2b	T	C	7: 4,853,823 (GRCm39)	H117R	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Klf5	C	T	14: 99,536,406 (GRCm39)		probably benign	Het
Ltn1	G	A	16: 87,224,535 (GRCm39)	S63F	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Oas1f	A	C	5: 120,989,648 (GRCm39)	T196P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Ocln	T	C	13: 100,676,412 (GRCm39)	D27G	probably damaging	Het
Or2av9	A	T	11: 58,380,732 (GRCm39)	M283K	probably damaging	Het
Or2y17	A	G	11: 49,231,770 (GRCm39)	H137R	possibly damaging	Het
Rasgrf2	A	C	13: 92,160,221 (GRCm39)		probably null	Het
Sars2	G	T	7: 28,448,422 (GRCm39)	V268L	probably damaging	Het
Sin3a	T	A	9: 57,024,761 (GRCm39)	S1040R	possibly damaging	Het
Vps9d1	A	T	8: 123,979,404 (GRCm39)	Y39N	probably damaging	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
R5120:Acp4	UTSW	7	43,906,395 (GRCm39)	missense	probably damaging	1.00
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'- TCATAAGAACCATGGCAGGG -3'
(R):5'- TGCCCAGTCACAATTTGCAC -3'

Sequencing Primer
(F):5'- CAGTCAGCTGCTGGAAGC -3'
(R):5'- CAGTCACAATTTGCACGTTTGGAC -3'

Posted On

2014-10-02