Mutagenetix > Incidental Mutation

Incidental Mutation 'R4987:Acrbp'

385911

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

OY-TES-1, sp32

MMRRC Submission

042581-MU

Accession Numbers

Essential gene?

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

Stock #

R4987 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125026890-125040228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125030725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 249 (S249P)

Ref Sequence

ENSEMBL: ENSMUSP00000108033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000032481] [ENSMUST00000088294] [ENSMUST00000112413] [ENSMUST00000112414] [ENSMUST00000112417] [ENSMUST00000140131]

AlphaFold

Q3V140

Predicted Effect

probably benign
Transcript: ENSMUST00000032480

SMART Domains

Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	5.5e-35	PFAM
low complexity region	118	131	N/A	INTRINSIC
PHD	197	242	3.67e-12	SMART

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

probably benign
Transcript: ENSMUST00000088294
AA Change: S249P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: S249P

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
AA Change: S249P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770
AA Change: S249P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112417

SMART Domains

Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	6.5e-35	PFAM
low complexity region	118	126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205110

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: ENSMUST00000151125

SMART Domains

Protein: ENSMUSP00000119709
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	1.4e-34	PFAM
low complexity region	118	131	N/A	INTRINSIC
PDB:1WEU\|A	167	216	3e-32	PDB
SCOP:d1fp0a1	190	216	2e-3	SMART
Blast:PHD	197	215	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000140131

SMART Domains

Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	6	107	2.1e-35	PFAM
low complexity region	114	139	N/A	INTRINSIC
PHD	198	243	3.67e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.3%

Validation Efficiency

98% (44/45)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	G	14: 56,010,934 (GRCm39)	V661A	probably benign	Het
Ahdc1	T	G	4: 132,791,631 (GRCm39)	H957Q	possibly damaging	Het
Atp10b	A	G	11: 43,042,440 (GRCm39)		probably benign	Het
B3gnt5	A	T	16: 19,587,952 (GRCm39)	N57I	probably damaging	Het
Brms1l	T	A	12: 55,912,800 (GRCm39)	D264E	probably benign	Het
Camk1g	T	A	1: 193,030,783 (GRCm39)	N309Y	probably damaging	Het
Chl1	A	G	6: 103,651,938 (GRCm39)	T285A	probably damaging	Het
Cspg4b	T	C	13: 113,454,635 (GRCm39)	V227A	probably benign	Het
Dennd1c	G	T	17: 57,380,852 (GRCm39)	T200K	probably damaging	Het
Dpysl3	C	A	18: 43,461,492 (GRCm39)	M566I	probably benign	Het
Dscam	A	T	16: 96,498,721 (GRCm39)	D985E	probably benign	Het
Fmo5	T	C	3: 97,542,894 (GRCm39)	M68T	probably benign	Het
Gm26996	A	G	6: 130,567,959 (GRCm39)		unknown	Het
Gm9991	A	T	1: 90,603,138 (GRCm39)		noncoding transcript	Het
Gzmc	T	A	14: 56,468,997 (GRCm39)	I241L	probably damaging	Het
Hibadh	A	T	6: 52,599,880 (GRCm39)	S105R	probably damaging	Het
Krt87	A	G	15: 101,384,890 (GRCm39)	I402T	probably benign	Het
Krtap31-2	A	G	11: 99,827,396 (GRCm39)	D76G	possibly damaging	Het
Lin9	A	G	1: 180,496,329 (GRCm39)	S249G	probably damaging	Het
Lpcat1	T	A	13: 73,637,222 (GRCm39)		probably null	Het
Mfap4	A	G	11: 61,376,908 (GRCm39)	I46V	probably benign	Het
Nos1	T	C	5: 118,064,598 (GRCm39)		probably null	Het
Nostrin	A	G	2: 68,986,775 (GRCm39)	M107V	probably benign	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or8k33	A	C	2: 86,383,579 (GRCm39)	D296E	probably null	Het
Pcdha12	T	A	18: 37,154,604 (GRCm39)	V441E	probably damaging	Het
Plcd4	A	G	1: 74,587,118 (GRCm39)		probably benign	Het
Plscr1l1	T	C	9: 92,236,637 (GRCm39)	S175P	probably damaging	Het
Ppme1	T	C	7: 99,994,278 (GRCm39)	D145G	probably benign	Het
Rbm25	T	C	12: 83,724,630 (GRCm39)	V793A	probably damaging	Het
Rlbp1	A	T	7: 79,029,879 (GRCm39)	V118E	probably damaging	Het
Serinc2	C	T	4: 130,156,820 (GRCm39)		probably null	Het
Slc25a32	A	G	15: 38,963,414 (GRCm39)	C136R	possibly damaging	Het
Smco2	A	G	6: 146,757,590 (GRCm39)	D48G	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Ubr1	A	T	2: 120,794,047 (GRCm39)	L46I	probably benign	Het
Wdsub1	A	G	2: 59,700,737 (GRCm39)		probably benign	Het
Zp3	T	A	5: 136,016,359 (GRCm39)	C320*	probably null	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
R0483:Acrbp	UTSW	6	125,031,759 (GRCm39)	missense	possibly damaging	0.61
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
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'- GCTCAACAACAACGTGGAGG -3'
(R):5'- TCTCCAGGAGTCATCATACAGTTC -3'

Sequencing Primer
(F):5'- AGTCATCCTTGTCCCTGGGAG -3'
(R):5'- CATTCATTTCATCCATTTCCTGGG -3'

Posted On

2016-05-10