Mutagenetix > Incidental Mutation

Incidental Mutation 'R0483:Acrbp'

42112

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

OY-TES-1, sp32

MMRRC Submission

038683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R0483 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

125026890-125040228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125031759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 353 (F353L)

Ref Sequence

ENSEMBL: ENSMUSP00000085632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032481] [ENSMUST00000088294] [ENSMUST00000112413] [ENSMUST00000112414]

AlphaFold

Q3V140

Predicted Effect

probably benign
Transcript: ENSMUST00000032481

SMART Domains

Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	140	4.8e-78	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088294
AA Change: F353L

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: F353L

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	239	1.6e-139	PFAM
KAZAL	466	506	1.42e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112412

SMART Domains

Protein: ENSMUSP00000108031
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	87	6.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112413

SMART Domains

Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	169	6.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112414

SMART Domains

Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	239	1.9e-138	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140883

SMART Domains

Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	1e-34	PFAM
low complexity region	118	131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205110

Meta Mutation Damage Score

0.3052

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (89/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in delayed fertilization due to a delay in sperm penetration of the zona pellucida. Homozygous sperm also show reduced fertilization rates of oocytes with a thick or hardened zona pellucida. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009L16Rik	G	A	10: 83,595,502 (GRCm39)		probably benign	Het
1700048O20Rik	A	T	9: 121,769,769 (GRCm39)		noncoding transcript	Het
AA986860	A	G	1: 130,671,562 (GRCm39)	R595G	probably damaging	Het
Adamts20	T	A	15: 94,251,452 (GRCm39)	Q445L	probably benign	Het
Adgrg5	A	G	8: 95,660,136 (GRCm39)	D26G	possibly damaging	Het
Atad2b	A	T	12: 4,995,035 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,306,631 (GRCm39)	G1439C	probably damaging	Het
Atg2a	G	T	19: 6,306,632 (GRCm39)	G1439V	probably benign	Het
B3galt1	G	A	2: 67,948,932 (GRCm39)	V216I	probably benign	Het
Bmerb1	T	C	16: 13,913,803 (GRCm39)	*113R	probably null	Het
C2cd2	A	G	16: 97,660,788 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,564,025 (GRCm39)	V884M	probably damaging	Het
Cers5	C	A	15: 99,643,795 (GRCm39)	C22F	probably damaging	Het
Ces1d	C	A	8: 93,924,307 (GRCm39)	C14F	probably benign	Het
Cntn3	G	T	6: 102,180,927 (GRCm39)	P756Q	probably damaging	Het
Col4a1	T	C	8: 11,286,423 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,693,777 (GRCm39)		probably null	Het
Cox5b	G	A	1: 36,731,636 (GRCm39)		probably null	Het
Cwc27	C	A	13: 104,947,724 (GRCm39)		probably null	Het
Cyp27b1	A	C	10: 126,886,026 (GRCm39)	M260L	probably benign	Het
Ddx19b	A	T	8: 111,735,310 (GRCm39)	N465K	probably benign	Het
Depdc1b	T	C	13: 108,510,382 (GRCm39)	V298A	probably benign	Het
Dnaaf1	A	G	8: 120,317,405 (GRCm39)	I311M	possibly damaging	Het
Dnah17	T	C	11: 117,937,950 (GRCm39)	N3372S	probably benign	Het
Dus4l	G	A	12: 31,691,656 (GRCm39)	T184I	possibly damaging	Het
Dzip3	T	C	16: 48,768,076 (GRCm39)	K453E	possibly damaging	Het
Fhod3	C	T	18: 24,842,673 (GRCm39)	T3M	probably damaging	Het
Galnt10	T	C	11: 57,672,048 (GRCm39)	L446P	probably damaging	Het
Gfod1	T	A	13: 43,354,012 (GRCm39)	D321V	possibly damaging	Het
Glt8d2	C	A	10: 82,497,987 (GRCm39)		probably benign	Het
Gm11115	A	G	5: 88,301,948 (GRCm39)	M4T	unknown	Het
Gm11568	G	A	11: 99,749,209 (GRCm39)	C138Y	unknown	Het
Gm57859	C	T	11: 113,580,021 (GRCm39)	T472I	possibly damaging	Het
Gm9742	A	G	13: 8,085,052 (GRCm39)		noncoding transcript	Het
Gnrhr	G	T	5: 86,345,434 (GRCm39)	T84N	probably damaging	Het
Gpr176	C	A	2: 118,110,204 (GRCm39)	G352W	probably damaging	Het
Habp2	T	C	19: 56,304,864 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Inpp5j	C	G	11: 3,449,738 (GRCm39)	W681C	probably damaging	Het
Insl6	A	G	19: 29,298,968 (GRCm39)	M148T	probably benign	Het
Itgb1	T	G	8: 129,452,648 (GRCm39)	M771R	possibly damaging	Het
Kank1	G	T	19: 25,403,357 (GRCm39)		probably benign	Het
Kcnd3	T	C	3: 105,366,942 (GRCm39)	Y271H	probably damaging	Het
Kcnq4	C	A	4: 120,573,798 (GRCm39)	R221L	probably damaging	Het
Klk1b26	G	A	7: 43,665,772 (GRCm39)	V195I	probably benign	Het
Lactb	A	C	9: 66,878,145 (GRCm39)	V228G	possibly damaging	Het
Ldb3	T	C	14: 34,258,541 (GRCm39)	D649G	probably damaging	Het
Lilra6	T	A	7: 3,916,138 (GRCm39)	R240S	probably benign	Het
Lrp2	A	G	2: 69,338,145 (GRCm39)	Y1212H	probably damaging	Het
Mapk8ip1	A	T	2: 92,216,321 (GRCm39)		probably null	Het
Mctp1	C	T	13: 76,975,846 (GRCm39)	L483F	probably damaging	Het
Mmp16	T	C	4: 18,115,878 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,445,033 (GRCm39)	L360*	probably null	Het
Myh4	A	G	11: 67,143,123 (GRCm39)	E1017G	probably damaging	Het
Nell1	A	T	7: 49,879,928 (GRCm39)	M307L	probably benign	Het
Or10al3	C	T	17: 38,012,188 (GRCm39)	A209V	probably benign	Het
Or10d1	A	C	9: 39,484,139 (GRCm39)	C139G	probably damaging	Het
Or5m11	A	G	2: 85,781,587 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,752 (GRCm39)	V140A	probably benign	Het
Phc2	A	G	4: 128,617,100 (GRCm39)		probably benign	Het
Pp2d1	C	A	17: 53,814,999 (GRCm39)	C575F	probably benign	Het
Ptpra	T	A	2: 130,381,605 (GRCm39)	N364K	probably damaging	Het
R3hcc1l	A	G	19: 42,550,995 (GRCm39)		probably benign	Het
Rims1	A	G	1: 22,507,263 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,427,442 (GRCm39)		probably benign	Het
Sit1	T	A	4: 43,482,991 (GRCm39)	Q86L	possibly damaging	Het
Skint4	C	A	4: 111,975,136 (GRCm39)		probably benign	Het
Skint8	G	T	4: 111,796,020 (GRCm39)		probably benign	Het
Smim13	T	C	13: 41,426,186 (GRCm39)	I74T	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Spmap2l	A	G	5: 77,185,204 (GRCm39)		probably benign	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Synpo2	T	C	3: 122,907,981 (GRCm39)	D445G	probably damaging	Het
Tas2r102	A	T	6: 132,739,328 (GRCm39)	I79F	probably damaging	Het
Tmc4	A	G	7: 3,670,609 (GRCm39)	L494P	probably damaging	Het
Togaram1	G	T	12: 65,053,805 (GRCm39)	V1412F	probably damaging	Het
Topors	T	C	4: 40,261,952 (GRCm39)	D444G	probably damaging	Het
Trappc8	T	A	18: 20,978,658 (GRCm39)	I813F	possibly damaging	Het
Trim26	T	C	17: 37,163,598 (GRCm39)		probably benign	Het
Unc13a	T	C	8: 72,097,557 (GRCm39)	D1171G	probably damaging	Het
Usp7	A	G	16: 8,517,126 (GRCm39)	V245A	probably damaging	Het
Vmn1r38	T	A	6: 66,753,979 (GRCm39)	T46S	probably benign	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het
Zcchc14	T	A	8: 122,355,388 (GRCm39)		probably benign	Het
Zfp451	T	A	1: 33,809,991 (GRCm39)		probably benign	Het

Other mutations in Acrbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Acrbp	APN	6	125,027,477 (GRCm39)	missense	probably damaging	1.00
IGL01656:Acrbp	APN	6	125,030,675 (GRCm39)	missense	possibly damaging	0.88
IGL02095:Acrbp	APN	6	125,030,919 (GRCm39)	nonsense	probably null
IGL02186:Acrbp	APN	6	125,031,773 (GRCm39)	splice site	probably null
IGL02473:Acrbp	APN	6	125,031,661 (GRCm39)	missense	probably benign
IGL02831:Acrbp	APN	6	125,038,212 (GRCm39)	missense	possibly damaging	0.89
IGL03110:Acrbp	APN	6	125,039,436 (GRCm39)	missense	probably damaging	0.99
R0071:Acrbp	UTSW	6	125,027,915 (GRCm39)	unclassified	probably benign
R0071:Acrbp	UTSW	6	125,027,915 (GRCm39)	unclassified	probably benign
R0279:Acrbp	UTSW	6	125,030,917 (GRCm39)	critical splice donor site	probably null
R1017:Acrbp	UTSW	6	125,038,223 (GRCm39)	splice site	probably benign
R1486:Acrbp	UTSW	6	125,027,585 (GRCm39)	missense	probably damaging	1.00
R4679:Acrbp	UTSW	6	125,037,881 (GRCm39)	missense	probably damaging	0.96
R4898:Acrbp	UTSW	6	125,027,501 (GRCm39)	missense	probably damaging	0.97
R4987:Acrbp	UTSW	6	125,030,725 (GRCm39)	missense	probably benign	0.23
R5249:Acrbp	UTSW	6	125,037,885 (GRCm39)	missense	probably damaging	0.98
R5458:Acrbp	UTSW	6	125,027,013 (GRCm39)	unclassified	probably benign
R5579:Acrbp	UTSW	6	125,038,062 (GRCm39)	missense	probably benign	0.00
R6491:Acrbp	UTSW	6	125,028,442 (GRCm39)	unclassified	probably benign
R7643:Acrbp	UTSW	6	125,030,795 (GRCm39)	missense	possibly damaging	0.92
R8217:Acrbp	UTSW	6	125,037,921 (GRCm39)	missense	probably damaging	0.99
R9167:Acrbp	UTSW	6	125,039,942 (GRCm39)	missense	probably damaging	1.00
R9280:Acrbp	UTSW	6	125,039,938 (GRCm39)	missense	probably damaging	0.96
R9492:Acrbp	UTSW	6	125,038,062 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGTGGCTGTGGTTTTCCACC -3'
(R):5'- TGCTGCCCATTCCAGAATGAACTTG -3'

Sequencing Primer
(F):5'- GTGGTTTTCCACCCCAGC -3'
(R):5'- tgtgactcctttgtaacagcc -3'

Posted On

2013-05-23