Incidental Mutation 'BB004:Dpy19l2'
ID 642283
Institutional Source Beutler Lab
Gene Symbol Dpy19l2
Ensembl Gene ENSMUSG00000085576
Gene Name dpy-19 like 2
Synonyms 4932443J21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # BB004
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 24468343-24607589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24607197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 88 (V88A)
Ref Sequence ENSEMBL: ENSMUSP00000132092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133010]
AlphaFold P0CW70
Predicted Effect probably benign
Transcript: ENSMUST00000133010
AA Change: V88A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: V88A

DomainStartEndE-ValueType
Pfam:Dpy19 129 772 3.1e-233 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male sterility associated with globozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,123,539 (GRCm39) M111T probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agrn C T 4: 156,257,266 (GRCm39) G1188D probably damaging Het
Amz2 A G 11: 109,319,884 (GRCm39) K90R probably damaging Het
Arhgef4 G T 1: 34,846,334 (GRCm39) Q227H probably damaging Het
B4galt3 T A 1: 171,099,342 (GRCm39) C10* probably null Het
Banf2 T A 2: 143,915,718 (GRCm39) M53K probably benign Het
BC034090 A T 1: 155,117,371 (GRCm39) L249* probably null Het
Cftr A G 6: 18,267,970 (GRCm39) D673G possibly damaging Het
Cntnap2 G T 6: 47,072,621 (GRCm39) C1063F possibly damaging Het
Cstpp1 T A 2: 91,252,250 (GRCm39) D37V probably damaging Het
Dnah3 A G 7: 119,550,494 (GRCm39) I296T probably damaging Het
Fbln5 T C 12: 101,784,647 (GRCm39) probably benign Het
Fbn1 T C 2: 125,225,656 (GRCm39) D532G possibly damaging Het
Fnta G A 8: 26,494,454 (GRCm39) R258* probably null Het
Gch1 G A 14: 47,393,380 (GRCm39) H201Y probably damaging Het
Grik2 A T 10: 49,116,890 (GRCm39) S624T probably damaging Het
Grm5 T A 7: 87,685,382 (GRCm39) S500T probably benign Het
Hmcn1 T A 1: 150,485,526 (GRCm39) I4359F probably damaging Het
Hrc T A 7: 44,985,477 (GRCm39) H209Q possibly damaging Het
Hsd17b14 T C 7: 45,215,395 (GRCm39) M164T probably damaging Het
Hydin T C 8: 111,307,476 (GRCm39) F3952L possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc4 A G 16: 32,592,011 (GRCm39) T958A Het
Myo19 A G 11: 84,791,046 (GRCm39) E419G probably damaging Het
Ndufa5 A G 6: 24,527,291 (GRCm39) V16A possibly damaging Het
Or10a2 T C 7: 106,673,496 (GRCm39) F154L probably benign Het
Phf24 A C 4: 42,934,774 (GRCm39) T137P probably damaging Het
Pkp4 A T 2: 59,142,098 (GRCm39) N467I probably damaging Het
Pramel25 T A 4: 143,519,536 (GRCm39) I99N probably benign Het
Rbm12b2 C T 4: 12,095,417 (GRCm39) R759C possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf34 T A 5: 122,988,288 (GRCm39) probably benign Het
Scaf8 T A 17: 3,209,495 (GRCm39) S73T unknown Het
Scn4a T A 11: 106,233,209 (GRCm39) E454D probably damaging Het
Serpina1e A G 12: 103,917,450 (GRCm39) V73A probably benign Het
Sh3rf2 A G 18: 42,244,487 (GRCm39) T350A probably benign Het
Slc35a1 A G 4: 34,669,021 (GRCm39) V264A probably damaging Het
Slf2 A G 19: 44,923,740 (GRCm39) K185E probably damaging Het
Spmip8 T A 8: 96,039,786 (GRCm39) S68T probably benign Het
Spsb2 T C 6: 124,786,336 (GRCm39) F23S probably benign Het
Ssx2ip T G 3: 146,138,365 (GRCm39) L404R probably damaging Het
Strn4 T A 7: 16,560,556 (GRCm39) L236Q probably null Het
Tcp10b A G 17: 13,288,579 (GRCm39) T202A probably benign Het
Tdp1 G T 12: 99,878,555 (GRCm39) V448L probably damaging Het
Tecrl T C 5: 83,502,666 (GRCm39) E61G probably damaging Het
Trim50 T C 5: 135,382,465 (GRCm39) F106L probably benign Het
Usp5 G T 6: 124,801,192 (GRCm39) F224L probably benign Het
Vmn2r114 G C 17: 23,510,619 (GRCm39) N620K probably damaging Het
Vmn2r45 C A 7: 8,486,513 (GRCm39) M258I probably benign Het
Zfp574 T A 7: 24,779,572 (GRCm39) V198E probably benign Het
Zmym4 A G 4: 126,799,170 (GRCm39) I722T probably benign Het
Other mutations in Dpy19l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Dpy19l2 APN 9 24,494,114 (GRCm39) missense probably damaging 1.00
IGL01137:Dpy19l2 APN 9 24,569,858 (GRCm39) missense possibly damaging 0.78
IGL01586:Dpy19l2 APN 9 24,578,271 (GRCm39) missense probably benign 0.16
IGL02245:Dpy19l2 APN 9 24,607,321 (GRCm39) missense probably benign
IGL02507:Dpy19l2 APN 9 24,542,563 (GRCm39) missense probably benign 0.01
IGL02541:Dpy19l2 APN 9 24,569,943 (GRCm39) missense probably benign 0.00
IGL02644:Dpy19l2 APN 9 24,569,888 (GRCm39) missense probably damaging 1.00
IGL03144:Dpy19l2 APN 9 24,557,603 (GRCm39) missense possibly damaging 0.92
Deferential UTSW 9 24,607,110 (GRCm39) missense probably benign 0.41
polite UTSW 9 24,572,039 (GRCm39) missense possibly damaging 0.91
BB014:Dpy19l2 UTSW 9 24,607,197 (GRCm39) missense probably benign 0.00
R0022:Dpy19l2 UTSW 9 24,607,420 (GRCm39) missense probably benign
R0029:Dpy19l2 UTSW 9 24,469,397 (GRCm39) missense probably damaging 0.97
R0066:Dpy19l2 UTSW 9 24,557,679 (GRCm39) splice site probably benign
R0066:Dpy19l2 UTSW 9 24,557,679 (GRCm39) splice site probably benign
R0089:Dpy19l2 UTSW 9 24,607,089 (GRCm39) missense probably benign 0.01
R0240:Dpy19l2 UTSW 9 24,569,876 (GRCm39) missense probably damaging 1.00
R0240:Dpy19l2 UTSW 9 24,569,876 (GRCm39) missense probably damaging 1.00
R0349:Dpy19l2 UTSW 9 24,607,218 (GRCm39) missense possibly damaging 0.89
R0491:Dpy19l2 UTSW 9 24,607,324 (GRCm39) missense probably benign 0.09
R0519:Dpy19l2 UTSW 9 24,469,391 (GRCm39) missense probably benign 0.30
R1398:Dpy19l2 UTSW 9 24,492,559 (GRCm39) splice site probably benign
R1465:Dpy19l2 UTSW 9 24,580,618 (GRCm39) missense probably benign 0.04
R1465:Dpy19l2 UTSW 9 24,580,618 (GRCm39) missense probably benign 0.04
R1576:Dpy19l2 UTSW 9 24,495,798 (GRCm39) missense probably benign
R1606:Dpy19l2 UTSW 9 24,492,511 (GRCm39) missense probably benign
R2157:Dpy19l2 UTSW 9 24,592,076 (GRCm39) missense probably benign 0.02
R2157:Dpy19l2 UTSW 9 24,495,928 (GRCm39) missense probably benign 0.00
R2402:Dpy19l2 UTSW 9 24,492,544 (GRCm39) missense probably damaging 1.00
R2409:Dpy19l2 UTSW 9 24,569,924 (GRCm39) missense probably benign 0.00
R3196:Dpy19l2 UTSW 9 24,607,285 (GRCm39) missense probably damaging 1.00
R3419:Dpy19l2 UTSW 9 24,492,501 (GRCm39) missense probably damaging 1.00
R4884:Dpy19l2 UTSW 9 24,539,476 (GRCm39) nonsense probably null
R5289:Dpy19l2 UTSW 9 24,607,293 (GRCm39) missense probably benign
R5950:Dpy19l2 UTSW 9 24,492,430 (GRCm39) missense probably benign 0.10
R6470:Dpy19l2 UTSW 9 24,572,039 (GRCm39) missense possibly damaging 0.91
R7028:Dpy19l2 UTSW 9 24,539,547 (GRCm39) missense probably benign 0.15
R7051:Dpy19l2 UTSW 9 24,495,789 (GRCm39) missense probably benign 0.00
R7095:Dpy19l2 UTSW 9 24,607,110 (GRCm39) missense probably benign 0.41
R7649:Dpy19l2 UTSW 9 24,607,459 (GRCm39) start codon destroyed probably null 0.53
R7927:Dpy19l2 UTSW 9 24,607,197 (GRCm39) missense probably benign 0.00
R7936:Dpy19l2 UTSW 9 24,469,454 (GRCm39) missense probably damaging 1.00
R8076:Dpy19l2 UTSW 9 24,591,988 (GRCm39) missense probably damaging 1.00
R8259:Dpy19l2 UTSW 9 24,580,702 (GRCm39) missense probably benign 0.08
R8473:Dpy19l2 UTSW 9 24,492,526 (GRCm39) missense probably benign
R9493:Dpy19l2 UTSW 9 24,530,459 (GRCm39) missense probably damaging 1.00
X0067:Dpy19l2 UTSW 9 24,496,833 (GRCm39) missense probably benign 0.00
Z1088:Dpy19l2 UTSW 9 24,572,120 (GRCm39) splice site probably null
Z1177:Dpy19l2 UTSW 9 24,557,655 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CCTTCAAGTCTCTACGCTGG -3'
(R):5'- CCGACAAGGAGTAAGCTCAG -3'

Sequencing Primer
(F):5'- GTCTCTACGCTGGGAGAAAAACC -3'
(R):5'- ACAATCCTCCTGCACGGG -3'
Posted On 2020-08-01