Incidental Mutation 'IGL01837:Prm2'
ID 154980
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: 0.119) question?
Stock # IGL01837
Quality Score
Status
Chromosome 16
Chromosomal Location 10609241-10609969 bp(-) (GRCm39)
Type of Mutation splice site (4415 bp from exon)
DNA Base Change (assembly) G to A at 10609775 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 null
Transcript: ENSMUST00000023144
SMART Domains Protein: ENSMUSP00000023144
Gene: ENSMUSG00000022501

DomainStartEndE-ValueType
Pfam:Protamine_P1 2 50 1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000037996
AA Change: Q30*
SMART Domains Protein: ENSMUSP00000047925
Gene: ENSMUSG00000038015
AA Change: Q30*

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 probably null
Transcript: ENSMUST00000189593
AA Change: Q30*
SMART Domains Protein: ENSMUSP00000139898
Gene: ENSMUSG00000038015
AA Change: Q30*

DomainStartEndE-ValueType
Pfam:Protamine_P2 1 91 1.5e-45 PFAM
Predicted Effect probably null
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,627,671 (GRCm39) F1372L probably damaging Het
Alcam T A 16: 52,073,531 (GRCm39) N339I probably benign Het
Ankrd35 A C 3: 96,587,982 (GRCm39) D141A probably damaging Het
Apc2 A G 10: 80,150,492 (GRCm39) I1820V probably benign Het
Ccp110 T A 7: 118,324,684 (GRCm39) probably null Het
Copa T A 1: 171,946,419 (GRCm39) D954E probably benign Het
Csmd2 A T 4: 128,313,363 (GRCm39) I1347F possibly damaging Het
Ddx10 A G 9: 53,140,498 (GRCm39) I301T probably benign Het
Defb23 T A 2: 152,301,294 (GRCm39) M93L probably benign Het
Dnah8 T C 17: 30,970,565 (GRCm39) probably null Het
Dok3 T C 13: 55,671,383 (GRCm39) E396G probably damaging Het
Eml6 T A 11: 29,727,055 (GRCm39) M1318L probably benign Het
Foxm1 T A 6: 128,343,167 (GRCm39) probably benign Het
Gm11992 A T 11: 9,011,266 (GRCm39) R236W probably damaging Het
Greb1 T C 12: 16,734,452 (GRCm39) I1513V probably benign Het
Hivep3 A G 4: 119,951,759 (GRCm39) E25G possibly damaging Het
Ighg2b C T 12: 113,270,065 (GRCm39) E318K unknown Het
Itga4 T C 2: 79,145,349 (GRCm39) S722P probably damaging Het
Kirrel3 G A 9: 34,946,224 (GRCm39) R617H probably damaging Het
Mboat1 A T 13: 30,425,166 (GRCm39) H409L possibly damaging Het
Naa15 A T 3: 51,351,369 (GRCm39) K180* probably null Het
Nccrp1 A G 7: 28,246,191 (GRCm39) S124P probably damaging Het
Nphp4 T C 4: 152,573,338 (GRCm39) I92T probably damaging Het
Or13a28 G A 7: 140,218,124 (GRCm39) C170Y probably damaging Het
Or6d14 C A 6: 116,533,807 (GRCm39) Y140* probably null Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Plcb2 C T 2: 118,542,407 (GRCm39) probably null Het
Pramel19 A G 4: 101,798,650 (GRCm39) E207G probably damaging Het
R3hdm1 C T 1: 128,114,497 (GRCm39) Q184* probably null Het
Rgl1 A T 1: 152,424,901 (GRCm39) N359K probably damaging Het
Rnf44 A G 13: 54,829,966 (GRCm39) Y366H probably damaging Het
Rpap2 G A 5: 107,773,835 (GRCm39) probably null Het
Ryr3 T C 2: 112,631,665 (GRCm39) N2120S probably damaging Het
Samd8 A G 14: 21,825,027 (GRCm39) probably benign Het
Sipa1 G T 19: 5,702,099 (GRCm39) T937K probably damaging Het
Sos1 A T 17: 80,730,157 (GRCm39) D707E probably damaging Het
Tas2r109 T C 6: 132,957,477 (GRCm39) N151S probably benign Het
Try5 T C 6: 41,290,358 (GRCm39) N42S probably benign Het
Ttn G T 2: 76,732,338 (GRCm39) probably benign Het
Utp14b A G 1: 78,642,636 (GRCm39) E178G probably damaging Het
Other mutations in Prm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01838:Prm2 APN 16 10,609,672 (GRCm39) unclassified probably benign
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