Mutagenetix > Incidental Mutation

Incidental Mutation 'R4898:Acrbp'

375896

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

OY-TES-1, sp32

MMRRC Submission

042502-MU

Accession Numbers

Essential gene?

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

Stock #

R4898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125026890-125040228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125027501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 50 (T50P)

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
AA Change: T50P

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770
AA Change: T50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088294
AA Change: T50P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: T50P

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
AA Change: T50P

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770
AA Change: T50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112414
AA Change: T50P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770
AA Change: T50P

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: ENSMUST00000128277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152574

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: ENSMUST00000156091

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,639,111 (GRCm39)	Y944C	probably damaging	Het
Acacb	T	C	5: 114,370,999 (GRCm39)	V1747A	probably benign	Het
Acad8	C	T	9: 26,889,698 (GRCm39)	R332H	probably damaging	Het
Ahctf1	G	T	1: 179,583,077 (GRCm39)	N1500K	probably benign	Het
Aoc1l3	A	G	6: 48,964,651 (GRCm39)	T220A	possibly damaging	Het
Arfgef1	A	G	1: 10,229,798 (GRCm39)	I1301T	possibly damaging	Het
Arhgef15	T	C	11: 68,842,171 (GRCm39)	S478G	probably benign	Het
Armh1	T	C	4: 117,094,977 (GRCm39)	D21G	probably damaging	Het
Atp13a4	A	T	16: 29,227,779 (GRCm39)	L1045*	probably null	Het
Atp2a3	T	A	11: 72,873,506 (GRCm39)	L793H	probably damaging	Het
B4galnt4	C	A	7: 140,648,173 (GRCm39)	P563Q	probably benign	Het
Bcl2a1b	A	T	9: 89,081,713 (GRCm39)	K94*	probably null	Het
Bod1	T	A	11: 31,616,853 (GRCm39)	Q136L	possibly damaging	Het
C2cd3	A	G	7: 100,055,166 (GRCm39)	K443R	probably damaging	Het
Cadps	A	G	14: 12,411,588 (GRCm38)	V1250A	possibly damaging	Het
Car12	T	A	9: 66,671,600 (GRCm39)	Y332*	probably null	Het
Ccdc186	A	T	19: 56,790,432 (GRCm39)		probably null	Het
Cdh6	T	C	15: 13,034,774 (GRCm39)	T629A	probably damaging	Het
Cep112	T	A	11: 108,397,471 (GRCm39)	D353E	probably damaging	Het
Cep152	T	C	2: 125,428,301 (GRCm39)	S777G	probably benign	Het
Clec4b2	A	C	6: 123,181,163 (GRCm39)	K183Q	probably benign	Het
Cngb3	T	C	4: 19,395,926 (GRCm39)	Y323H	probably benign	Het
Cnp	G	T	11: 100,467,202 (GRCm39)	E48D	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp2d11	T	A	15: 82,275,224 (GRCm39)	D241V	probably benign	Het
D5Ertd579e	T	A	5: 36,772,285 (GRCm39)	E703D	probably damaging	Het
Dlg1	T	C	16: 31,676,764 (GRCm39)	V731A	probably damaging	Het
Dlgap5	T	C	14: 47,651,276 (GRCm39)	S86G	probably benign	Het
Dock3	C	A	9: 106,870,171 (GRCm39)	V638F	possibly damaging	Het
Dock3	A	G	9: 106,807,266 (GRCm39)	F1354L	probably damaging	Het
Eif3c	A	T	7: 126,156,626 (GRCm39)	M407K	probably benign	Het
Eif4a3l1	A	T	6: 136,305,737 (GRCm39)	Q66L	possibly damaging	Het
Epha4	T	A	1: 77,366,712 (GRCm39)	K578*	probably null	Het
Erc2	C	T	14: 27,375,285 (GRCm39)	L168F	probably damaging	Het
Esyt2	A	G	12: 116,305,708 (GRCm39)	I313V	probably benign	Het
Far1	T	A	7: 113,167,432 (GRCm39)	Y506N	probably damaging	Het
Fbxw26	T	A	9: 109,547,037 (GRCm39)	N463Y	possibly damaging	Het
Fgg	A	G	3: 82,915,847 (GRCm39)	D96G	probably benign	Het
Gfer	A	G	17: 24,914,274 (GRCm39)	S130P	probably damaging	Het
Hdac10	A	T	15: 89,012,650 (GRCm39)	M1K	probably null	Het
Hsd3b1	A	T	3: 98,760,642 (GRCm39)	S110R	probably benign	Het
Ints15	A	G	5: 143,287,592 (GRCm39)	S438P	probably benign	Het
Itga6	T	C	2: 71,668,717 (GRCm39)	L552P	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc8a	A	G	2: 30,147,214 (GRCm39)	K676R	probably benign	Het
Lrrc8b	A	T	5: 105,628,080 (GRCm39)	Y142F	probably benign	Het
Lyz2	T	A	10: 117,114,614 (GRCm39)	D105V	possibly damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Map7d1	T	C	4: 126,127,018 (GRCm39)	K731E	unknown	Het
Mgam	A	C	6: 40,619,988 (GRCm39)	I26L	probably benign	Het
Mmp13	A	T	9: 7,272,953 (GRCm39)	E104D	probably benign	Het
Morc2a	C	T	11: 3,626,664 (GRCm39)	R241*	probably null	Het
Mtfmt	C	A	9: 65,359,386 (GRCm39)	H354N	probably benign	Het
Myh3	T	C	11: 66,990,233 (GRCm39)	I1626T	probably benign	Het
Ndst1	A	T	18: 60,825,059 (GRCm39)	V753D	probably benign	Het
Neurl4	A	G	11: 69,793,997 (GRCm39)	D151G	probably damaging	Het
Nlrx1	T	C	9: 44,168,194 (GRCm39)	S568G	probably benign	Het
Or10g3b	G	C	14: 52,586,999 (GRCm39)	P168R	probably damaging	Het
Or2t45	T	C	11: 58,669,132 (GRCm39)	Y60H	possibly damaging	Het
Or2t46	T	G	11: 58,472,546 (GRCm39)	L292R	probably damaging	Het
Or4c52	T	C	2: 89,845,762 (GRCm39)	F163L	probably damaging	Het
Or52s1	A	G	7: 102,861,747 (GRCm39)	I216V	probably damaging	Het
Or6c66	A	T	10: 129,461,468 (GRCm39)	I154N	probably benign	Het
Or8b42	A	T	9: 38,342,111 (GRCm39)	M178L	probably benign	Het
Osbpl7	A	G	11: 96,950,976 (GRCm39)	I608V	probably damaging	Het
Pard3b	T	C	1: 61,807,159 (GRCm39)	I58T	probably damaging	Het
Pcare	A	G	17: 72,058,066 (GRCm39)	M537T	probably damaging	Het
Pcdhga1	A	C	18: 37,795,407 (GRCm39)	E137A	possibly damaging	Het
Pde6c	G	A	19: 38,139,072 (GRCm39)	V301I	possibly damaging	Het
Pdia5	G	C	16: 35,230,786 (GRCm39)	N338K	possibly damaging	Het
Pex11g	T	C	8: 3,514,042 (GRCm39)	Y40C	probably damaging	Het
Plekhg3	A	G	12: 76,610,899 (GRCm39)	Y183C	probably damaging	Het
Pole	A	C	5: 110,438,090 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,045,313 (GRCm39)	L948P	probably damaging	Het
Prdm2	A	T	4: 142,860,761 (GRCm39)	V843E	probably damaging	Het
Prss56	C	A	1: 87,115,708 (GRCm39)	F527L	probably damaging	Het
Psmd11	T	C	11: 80,329,146 (GRCm39)	L88P	probably damaging	Het
Ptx3	G	C	3: 66,132,412 (GRCm39)	G311A	probably damaging	Het
Rars1	A	T	11: 35,699,385 (GRCm39)	L636H	probably damaging	Het
Rnft2	A	G	5: 118,375,507 (GRCm39)	S81P	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxra	T	A	2: 27,631,195 (GRCm39)	I142N	probably damaging	Het
Scin	T	C	12: 40,154,931 (GRCm39)	M221V	probably benign	Het
Sfmbt2	G	A	2: 10,584,069 (GRCm39)	V809I	possibly damaging	Het
Sirt1	T	A	10: 63,157,783 (GRCm39)	I505F	probably benign	Het
Six5	T	C	7: 18,829,096 (GRCm39)	Y179H	probably damaging	Het
Slc12a4	A	C	8: 106,671,241 (GRCm39)	M982R	probably damaging	Het
Slco4c1	T	A	1: 96,765,237 (GRCm39)	L404F	probably damaging	Het
Smn1	T	C	13: 100,268,931 (GRCm39)	L259P	probably damaging	Het
Sorl1	T	G	9: 41,952,935 (GRCm39)	D702A	probably damaging	Het
Spta1	A	G	1: 174,065,400 (GRCm39)	E1983G	possibly damaging	Het
Srsf1	T	A	11: 87,940,788 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,536,900 (GRCm39)	R4224*	probably null	Het
Sybu	T	G	15: 44,538,895 (GRCm39)	M383L	probably benign	Het
Tbx15	A	C	3: 99,259,583 (GRCm39)	N485H	possibly damaging	Het
Tcerg1l	A	T	7: 137,819,786 (GRCm39)	F485I	probably damaging	Het
Tdrd7	C	A	4: 46,005,616 (GRCm39)	T474N	possibly damaging	Het
Thada	A	T	17: 84,755,470 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,704,235 (GRCm39)	I1020F	probably damaging	Het
Tnxb	A	G	17: 34,914,566 (GRCm39)	D1884G	possibly damaging	Het
Tprn	T	C	2: 25,158,845 (GRCm39)	M623T	probably damaging	Het
Trdn	T	A	10: 33,350,413 (GRCm39)	Y661N	probably damaging	Het
Ttc41	T	C	10: 86,612,056 (GRCm39)	S1110P	possibly damaging	Het
Ttc6	A	C	12: 57,707,026 (GRCm39)	R644S	probably benign	Het
Ttyh1	A	T	7: 4,136,735 (GRCm39)	M448L	probably benign	Het
Unc79	G	T	12: 103,128,079 (GRCm39)	C2250F	probably damaging	Het
Ush2a	A	G	1: 188,358,805 (GRCm39)	I2110M	probably benign	Het
Uvssa	G	T	5: 33,571,257 (GRCm39)	E634*	probably null	Het
Vac14	A	C	8: 111,372,440 (GRCm39)	T384P	probably benign	Het
Wdr11	A	G	7: 129,235,445 (GRCm39)	E1169G	probably benign	Het
Zfp36l1	T	A	12: 80,157,298 (GRCm39)	T28S	probably benign	Het
Zfp715	A	T	7: 42,949,106 (GRCm39)	Y285N	possibly damaging	Het
Zfp91	A	T	19: 12,747,424 (GRCm39)	D566E	probably damaging	Het
Zgrf1	G	A	3: 127,396,085 (GRCm39)	V544M	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
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'- GTCATCAGGCATCACCCAAG -3'
(R):5'- AGCTTTTGCCCCAAGCCTAG -3'

Sequencing Primer
(F):5'- ACTTCTAGCCTGGGTCTGGC -3'
(R):5'- TTTGCCCCAAGCCTAGGTGAC -3'

Posted On

2016-03-17