Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Acrbp'

590346

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

OY-TES-1, sp32

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125026890-125040228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125030795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 272 (R272Q)

Ref Sequence

ENSEMBL: ENSMUSP00000085632 (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

possibly damaging
Transcript: ENSMUST00000088294
AA Change: R272Q

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: R272Q

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

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 damaging
Transcript: ENSMUST00000112414
AA Change: R272Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770
AA Change: R272Q

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Marchf4	T	G	1: 72,486,379 (GRCm39)	Q266H	probably damaging	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	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
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
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'- AGCTGCTGCAGTCATCCTTG -3'
(R):5'- GTATTTCCAAGGAAGGCCGC -3'

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

Posted On

2019-10-24