Mutagenetix > Incidental Mutations

Incidental Mutation 'R5249:Acrbp'

398784

Institutional Source

Beutler Lab

Gene Symbol

Acrbp

Ensembl Gene

ENSMUSG00000072770

Gene Name

proacrosin binding protein

Synonyms

sp32, OY-TES-1

MMRRC Submission

042820-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125049689-125063267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125060922 bp

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]

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
0610010F05Rik	A	G	11: 23,575,483	*719Q	probably null	Het
2810403A07Rik	T	A	3: 88,696,725	I283N	probably damaging	Het
A4gnt	A	G	9: 99,620,231	H148R	probably damaging	Het
Adam18	T	C	8: 24,625,852	T609A	probably benign	Het
Adam25	T	A	8: 40,755,954	N752K	probably benign	Het
Ano6	A	C	15: 95,913,588	S176R	probably benign	Het
Ano7	T	C	1: 93,375,196	S19P	probably benign	Het
Ap1b1	A	G	11: 5,026,364	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,265,637	C46*	probably null	Het
Arhgef26	T	A	3: 62,340,560	L355Q	probably damaging	Het
B4galnt4	C	T	7: 141,065,070	T219I	probably damaging	Het
Bap1	C	T	14: 31,257,286		probably benign	Het
Catip	T	G	1: 74,362,795	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,758,508	R331C	unknown	Het
Cep85l	T	C	10: 53,319,594		probably null	Het
Cfap206	T	A	4: 34,714,502	Q398L	probably benign	Het
Clec18a	A	G	8: 111,073,736	C352R	probably damaging	Het
Clic6	A	T	16: 92,539,451	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,293,073		probably benign	Het
Cyb5r3	A	C	15: 83,158,635		probably benign	Het
Dnah6	C	T	6: 73,113,488	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,902,440	R296L	probably damaging	Het
Dtwd1	C	A	2: 126,154,774	Q60K	probably benign	Het
Esyt1	C	A	10: 128,516,574	V723L	probably benign	Het
Fam71f1	A	G	6: 29,323,897	D207G	probably damaging	Het
Fbxo42	T	C	4: 141,199,024	L339P	probably damaging	Het
Furin	A	T	7: 80,393,421	N347K	probably damaging	Het
Fzd7	T	C	1: 59,483,363	M135T	probably damaging	Het
Hlf	A	G	11: 90,387,806	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,649	Q174*	probably null	Het
Kcnb1	T	A	2: 167,105,183	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692	Y391H	probably damaging	Het
Kif21b	C	T	1: 136,169,228	T1297M	probably damaging	Het
Krt8	T	G	15: 101,998,440	N317T	possibly damaging	Het
Lctl	G	T	9: 64,137,914	V372L	probably benign	Het
Lig1	C	T	7: 13,308,507	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,462,564	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,115,121	H10Y	probably benign	Het
Med1	A	T	11: 98,157,240	M910K	probably benign	Het
Mia2	A	T	12: 59,108,125	D209V	probably damaging	Het
Mpp4	C	T	1: 59,144,858		probably benign	Het
Mrgprb1	A	T	7: 48,447,477	V229E	possibly damaging	Het
Mtor	T	A	4: 148,463,732	C485S	probably damaging	Het
Mx1	T	C	16: 97,457,428	D23G	probably damaging	Het
Myrfl	T	C	10: 116,783,233	D740G	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nav2	G	A	7: 49,535,913	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,461,166	N262K	possibly damaging	Het
Olfr819	C	T	10: 129,966,209	A164T	probably benign	Het
Olfr916	A	G	9: 38,658,078	C105R	possibly damaging	Het
Opa1	A	T	16: 29,618,259	D699V	probably damaging	Het
Otud7a	A	G	7: 63,757,433	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,463,753	D53G	probably benign	Het
Pdcd5	A	G	7: 35,646,996		probably benign	Het
Phf21a	C	T	2: 92,228,477	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,779,144		probably benign	Het
Ptprq	T	C	10: 107,699,635	Q423R	probably damaging	Het
Pum1	A	T	4: 130,762,814	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,213,000	D415G	probably benign	Het
Rapgef6	A	G	11: 54,523,117	E23G	probably benign	Het
Rpia	G	T	6: 70,783,579	C121*	probably null	Het
Serpinb13	T	A	1: 106,998,697	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,137,734	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,162,065		probably benign	Het
Slamf6	A	C	1: 171,936,682	N214T	probably damaging	Het
Slc7a2	T	C	8: 40,908,093	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,671,178		probably null	Het
Spink7	A	T	18: 62,592,436	F79I	possibly damaging	Het
Srpk3	C	T	X: 73,774,949	R82*	probably null	Het
Sspo	A	T	6: 48,493,310	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,676,859	K700R	probably benign	Het
Tcf25	G	T	8: 123,388,633	R203L	probably damaging	Het
Tcp11	T	C	17: 28,071,783	I201V	possibly damaging	Het
Tex2	T	C	11: 106,546,789	D685G	unknown	Het
Themis	G	T	10: 28,761,199	E100*	probably null	Het
Tmem52b	G	A	6: 129,514,258		probably null	Het
Tnr	C	T	1: 159,684,656		probably benign	Het
Tox3	T	C	8: 90,248,816	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828	E269V	probably benign	Het
Tulp1	C	T	17: 28,362,677		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ube2j2	A	C	4: 155,949,058	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,492,608	M1K	probably null	Het
Vmn2r52	C	A	7: 10,176,270	R6L	probably benign	Het
Zbed4	G	A	15: 88,781,087	V453M	probably benign	Het
Zfp319	T	C	8: 95,328,471	E368G	probably benign	Het
Zfp366	A	C	13: 99,229,609	E426A	probably damaging	Het
Zfp687	A	T	3: 95,009,466	I783N	probably damaging	Het

Other mutations in Acrbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Acrbp	APN	6	125050514	missense	probably damaging	1.00
IGL01656:Acrbp	APN	6	125053712	missense	possibly damaging	0.88
IGL02095:Acrbp	APN	6	125053956	nonsense	probably null
IGL02186:Acrbp	APN	6	125054810	splice site	probably null
IGL02473:Acrbp	APN	6	125054698	missense	probably benign
IGL02831:Acrbp	APN	6	125061249	missense	possibly damaging	0.89
IGL03110:Acrbp	APN	6	125062473	missense	probably damaging	0.99
R0071:Acrbp	UTSW	6	125050952	unclassified	probably benign
R0071:Acrbp	UTSW	6	125050952	unclassified	probably benign
R0279:Acrbp	UTSW	6	125053954	critical splice donor site	probably null
R0483:Acrbp	UTSW	6	125054796	missense	possibly damaging	0.61
R1017:Acrbp	UTSW	6	125061260	splice site	probably benign
R1486:Acrbp	UTSW	6	125050622	missense	probably damaging	1.00
R4679:Acrbp	UTSW	6	125060918	missense	probably damaging	0.96
R4898:Acrbp	UTSW	6	125050538	missense	probably damaging	0.97
R4987:Acrbp	UTSW	6	125053762	missense	probably benign	0.23
R5458:Acrbp	UTSW	6	125050050	unclassified	probably benign
R5579:Acrbp	UTSW	6	125061099	missense	probably benign	0.00
R6491:Acrbp	UTSW	6	125051479	unclassified	probably benign
R7643:Acrbp	UTSW	6	125053832	missense	possibly damaging	0.92
R8217:Acrbp	UTSW	6	125060958	missense	probably damaging	0.99

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