Incidental Mutation 'R6448:Prm2'
ID 519266
Institutional Source Beutler Lab
Gene Symbol Prm2
Ensembl Gene ENSMUSG00000038015
Gene Name protamine 2
Synonyms Prm-2
MMRRC Submission 044584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6448 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 10609241-10609969 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 10609825 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: P13L
SMART Domains Protein: ENSMUSP00000047925
Gene: ENSMUSG00000038015
AA Change: P13L

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: P13L
SMART Domains Protein: ENSMUSP00000139898
Gene: ENSMUSG00000038015
AA Change: P13L

DomainStartEndE-ValueType
Pfam:Protamine_P2 1 91 1.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000230568
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (32/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 A T 12: 52,564,446 (GRCm39) K472N probably benign Het
C2 T G 17: 35,082,335 (GRCm39) D298A possibly damaging Het
Col16a1 T G 4: 129,952,781 (GRCm39) L409R probably damaging Het
Dlgap1 A G 17: 70,900,325 (GRCm39) E380G possibly damaging Het
Fam111a C A 19: 12,565,701 (GRCm39) H483Q probably benign Het
Fancc C T 13: 63,488,242 (GRCm39) R246Q probably damaging Het
Glb1 A T 9: 114,263,499 (GRCm39) Q256L probably damaging Het
Gm9195 A T 14: 72,671,451 (GRCm39) D2611E possibly damaging Het
Gsto1 C T 19: 47,846,420 (GRCm39) T89I probably benign Het
Hmcn2 A G 2: 31,310,832 (GRCm39) S3359G probably benign Het
Hook3 T A 8: 26,583,692 (GRCm39) N87I probably benign Het
Htt T A 5: 35,033,336 (GRCm39) M1868K probably benign Het
Ighv1-19 T C 12: 114,672,296 (GRCm39) E107G probably damaging Het
Il20rb A T 9: 100,356,986 (GRCm39) M48K probably benign Het
Inpp5j T C 11: 3,445,387 (GRCm39) H822R probably damaging Het
Kif14 G T 1: 136,431,085 (GRCm39) V1161F probably damaging Het
Klhdc2 T A 12: 69,350,694 (GRCm39) D169E probably benign Het
Ly75 A G 2: 60,129,389 (GRCm39) probably null Het
Myh15 T G 16: 48,992,295 (GRCm39) S1590A probably damaging Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Neb T C 2: 52,038,826 (GRCm39) D6748G probably damaging Het
Nfrkb T C 9: 31,306,085 (GRCm39) Y142H probably damaging Het
Or6c208 A T 10: 129,224,021 (GRCm39) D173V probably damaging Het
Or7a39 G A 10: 78,715,516 (GRCm39) C170Y possibly damaging Het
Or8k20 T A 2: 86,106,691 (GRCm39) I47F probably benign Het
Ralgapa1 T C 12: 55,766,446 (GRCm39) T1283A probably benign Het
Rest T C 5: 77,429,318 (GRCm39) L579P possibly damaging Het
Slc6a1 C T 6: 114,279,047 (GRCm39) T46I possibly damaging Het
Tcf20 A G 15: 82,736,861 (GRCm39) I1530T probably benign Het
Tox T G 4: 6,822,975 (GRCm39) D114A probably benign Het
Ulk4 C T 9: 120,932,696 (GRCm39) G1048D probably damaging Het
Other mutations in Prm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01837:Prm2 APN 16 10,609,775 (GRCm39) splice site probably null
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
Predicted Primers PCR Primer
(F):5'- GTTTAGATGGGCAGCAGCAG -3'
(R):5'- ATATGAGCCCTCTGAGAGCC -3'

Sequencing Primer
(F):5'- GGTGCTTACCTCTGCGATGC -3'
(R):5'- GCCCTCTGAGAGCCCCAAAC -3'
Posted On 2018-05-24