Incidental Mutation 'R0029:Dpy19l2'
ID 44576
Institutional Source Beutler Lab
Gene Symbol Dpy19l2
Ensembl Gene ENSMUSG00000085576
Gene Name dpy-19 like 2
Synonyms 4932443J21Rik
MMRRC Submission 038323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0029 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 24468343-24607589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24469397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 753 (D753V)
Ref Sequence ENSEMBL: ENSMUSP00000132092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133010]
AlphaFold P0CW70
Predicted Effect probably damaging
Transcript: ENSMUST00000133010
AA Change: D753V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: D753V

DomainStartEndE-ValueType
Pfam:Dpy19 129 772 3.1e-233 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Abt1 A T 13: 23,606,678 (GRCm39) F141Y possibly damaging Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Lrpap1 T C 5: 35,255,021 (GRCm39) N205S possibly damaging Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Nell1 G A 7: 49,770,463 (GRCm39) probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psmb7 T A 2: 38,523,919 (GRCm39) H152L probably damaging Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Stk38 T C 17: 29,201,112 (GRCm39) E188G probably benign Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V 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
BB004:Dpy19l2 UTSW 9 24,607,197 (GRCm39) missense probably benign 0.00
BB014:Dpy19l2 UTSW 9 24,607,197 (GRCm39) missense probably benign 0.00
R0022:Dpy19l2 UTSW 9 24,607,420 (GRCm39) missense probably benign
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'- TGAGGCTACCACCATCATCGGATT -3'
(R):5'- ACGTGTTGACTGGGGCTAGAGA -3'

Sequencing Primer
(F):5'- ACCATCATCGGATTTCTCAGAG -3'
(R):5'- ACTTCATCTTATTCTAGGTGTTGGAC -3'
Posted On 2013-06-11