Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Acrbp'

398784

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

OY-TES-1, sp32

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

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

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125026890-125040228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125037885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 394 (D394G)

Ref Sequence

ENSEMBL: ENSMUSP00000085632 (fasta)

Gene Model

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

AlphaFold

Q3V140

Predicted Effect

probably damaging
Transcript: ENSMUST00000088294
AA Change: D394G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: D394G

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: ENSMUST00000136100

Meta Mutation Damage Score

0.1634

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	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
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'- GTCCTTACAGTATGCTCTGGAG -3'
(R):5'- TCTAGCCCAGCAAATCGTCC -3'

Sequencing Primer
(F):5'- CTCTGGAGGTCTGATGCAAAG -3'
(R):5'- AGCAAATCGTCCTTTATCTGGG -3'

Posted On

2016-07-06