Incidental Mutation 'IGL01838:Prm2'
ID 155020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prm2
Ensembl Gene ENSMUSG00000038015
Gene Name protamine 2
Synonyms Prm-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL01838
Quality Score
Status
Chromosome 16
Chromosomal Location 10609241-10609969 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 10609672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023144] [ENSMUST00000037996] [ENSMUST00000050864] [ENSMUST00000051297] [ENSMUST00000189593] [ENSMUST00000230568]
AlphaFold P07978
Predicted Effect probably benign
Transcript: ENSMUST00000023144
SMART Domains Protein: ENSMUSP00000023144
Gene: ENSMUSG00000022501

DomainStartEndE-ValueType
Pfam:Protamine_P1 2 50 1e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000037996
AA Change: H64R
SMART Domains Protein: ENSMUSP00000047925
Gene: ENSMUSG00000038015
AA Change: H64R

DomainStartEndE-ValueType
Pfam:Protamine_P2 1 90 7.6e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050864
SMART Domains Protein: ENSMUSP00000059630
Gene: ENSMUSG00000050058

DomainStartEndE-ValueType
coiled coil region 41 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051297
SMART Domains Protein: ENSMUSP00000053078
Gene: ENSMUSG00000043050

DomainStartEndE-ValueType
Pfam:TP2 1 117 4.1e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000189593
AA Change: H64R
SMART Domains Protein: ENSMUSP00000139898
Gene: ENSMUSG00000038015
AA Change: H64R

DomainStartEndE-ValueType
Pfam:Protamine_P2 1 91 1.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230568
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is synthesized as a precursor and then cleaved to give rise to a family of protamine 2 peptides. [provided by RefSeq, Sep 2015]
PHENOTYPE: In chimeras deformed sperm with loosely compacted chromatin are derived from spermatogenic cells with one copy of the mutated allele. No offspring carrying the mutated allele are produced from matings using chimeras. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Cpe G T 8: 65,047,998 (GRCm39) T422K possibly damaging Het
Dis3l C A 9: 64,215,581 (GRCm39) V888L probably benign Het
Dnah7b T A 1: 46,397,297 (GRCm39) Y3909* probably null Het
Dnajb8 G A 6: 88,200,033 (GRCm39) V190M possibly damaging Het
Grip2 A G 6: 91,741,744 (GRCm39) V927A possibly damaging Het
Hyal3 C T 9: 107,463,786 (GRCm39) R304C possibly damaging Het
Igkv8-21 A G 6: 70,292,009 (GRCm39) S78P probably damaging Het
Lrrc7 A G 3: 157,891,100 (GRCm39) S356P probably damaging Het
Meiob T C 17: 25,042,643 (GRCm39) V157A possibly damaging Het
Mrpl48 C T 7: 100,201,860 (GRCm39) V35M probably damaging Het
Myo9b T C 8: 71,787,034 (GRCm39) Y739H probably damaging Het
Nfyb A G 10: 82,586,642 (GRCm39) L174S probably benign Het
Prss50 T C 9: 110,693,560 (GRCm39) L432P probably benign Het
Raly T A 2: 154,701,590 (GRCm39) probably benign Het
Scn11a A T 9: 119,587,649 (GRCm39) M1365K probably damaging Het
Slc28a2b C A 2: 122,348,464 (GRCm39) F270L possibly damaging Het
Spred1 T G 2: 117,008,062 (GRCm39) S323A probably benign Het
Svep1 T C 4: 58,121,910 (GRCm39) E761G possibly damaging Het
Thbs3 A T 3: 89,126,365 (GRCm39) K229* probably null Het
Thoc1 G A 18: 9,993,386 (GRCm39) G582S possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vmn2r114 T C 17: 23,515,956 (GRCm39) T512A probably benign Het
Wee1 T C 7: 109,723,744 (GRCm39) S220P probably benign Het
Other mutations in Prm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01837:Prm2 APN 16 10,609,775 (GRCm39) splice site probably null
IGL02414:Prm2 APN 16 10,609,754 (GRCm39) unclassified probably benign
R0212:Prm2 UTSW 16 10,609,463 (GRCm39) unclassified probably benign
R1848:Prm2 UTSW 16 10,609,455 (GRCm39) unclassified probably benign
R4604:Prm2 UTSW 16 10,609,613 (GRCm39) unclassified probably benign
R5144:Prm2 UTSW 16 10,609,732 (GRCm39) unclassified probably benign
R6448:Prm2 UTSW 16 10,609,825 (GRCm39) unclassified probably benign
Posted On 2014-02-04