Incidental Mutation 'R0491:Dpy19l2'
ID 42476
Institutional Source Beutler Lab
Gene Symbol Dpy19l2
Ensembl Gene ENSMUSG00000085576
Gene Name dpy-19 like 2
Synonyms 4932443J21Rik
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0491 (G1)
Quality Score 190
Status Validated
Chromosome 9
Chromosomal Location 24468343-24607589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24607324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 46 (R46G)
Ref Sequence ENSEMBL: ENSMUSP00000132092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133010]
AlphaFold P0CW70
Predicted Effect probably benign
Transcript: ENSMUST00000133010
AA Change: R46G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: R46G

DomainStartEndE-ValueType
Pfam:Dpy19 129 772 3.1e-233 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clec12a T A 6: 129,341,016 (GRCm39) D265E probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Itgb1bp1 C A 12: 21,326,896 (GRCm39) probably benign Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mmp11 G A 10: 75,762,592 (GRCm39) A287V probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Ntpcr C T 8: 126,464,093 (GRCm39) R73* probably null Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Utp20 A T 10: 88,596,774 (GRCm39) F2115L probably damaging Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably damaging 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
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
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'- ACAAACCCTTCAAGTCTCTACGCTG -3'
(R):5'- ATCCACCTGATCACGGGCTATGAG -3'

Sequencing Primer
(F):5'- TCTCTACGCTGGGAGAAAAAC -3'
(R):5'- CTGATCACGGGCTATGAGAAGATG -3'
Posted On 2013-05-23