Incidental Mutation 'R5606:Zpld2'
ID 439286
Institutional Source Beutler Lab
Gene Symbol Zpld2
Ensembl Gene ENSMUSG00000073747
Gene Name zona pellucida like domain containing 2
Synonyms Gm7534
MMRRC Submission 043157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5606 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133918115-133930315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 133927523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 410 (V410G)
Ref Sequence ENSEMBL: ENSMUSP00000095461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097849]
AlphaFold Q3UU21
Predicted Effect probably benign
Transcript: ENSMUST00000097849
AA Change: V410G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: V410G

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
internal_repeat_1 21 111 5.47e-40 PROSPERO
low complexity region 112 143 N/A INTRINSIC
low complexity region 158 177 N/A INTRINSIC
internal_repeat_1 181 271 5.47e-40 PROSPERO
low complexity region 322 334 N/A INTRINSIC
ZP 368 618 3.21e-13 SMART
low complexity region 650 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122228
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,699,731 (GRCm39) S75P probably damaging Het
Ankib1 A T 5: 3,751,907 (GRCm39) I711N probably damaging Het
Ankmy2 A G 12: 36,215,920 (GRCm39) N40S probably benign Het
Armc8 T C 9: 99,418,315 (GRCm39) K80E probably benign Het
Blm C A 7: 80,110,580 (GRCm39) probably null Het
Cand1 C A 10: 119,047,359 (GRCm39) Q710H possibly damaging Het
Ckap2l A T 2: 129,127,959 (GRCm39) I73N probably damaging Het
Ddx27 T A 2: 166,861,886 (GRCm39) D129E probably benign Het
Dnm3 T C 1: 162,113,587 (GRCm39) E491G probably damaging Het
Fgd6 C A 10: 93,974,190 (GRCm39) Y1310* probably null Het
Hnrnph3 C T 10: 62,855,222 (GRCm39) R21H possibly damaging Het
Hs3st4 C A 7: 123,996,365 (GRCm39) Q344K probably damaging Het
Hyal3 T C 9: 107,462,265 (GRCm39) S100P probably benign Het
Map3k19 G A 1: 127,750,694 (GRCm39) R886C probably benign Het
Mmrn2 G A 14: 34,119,581 (GRCm39) D187N probably damaging Het
Myo5c G A 9: 75,182,790 (GRCm39) A810T probably damaging Het
Noxa1 T A 2: 24,976,292 (GRCm39) E332V possibly damaging Het
Or10al7 T C 17: 38,365,693 (GRCm39) T264A probably damaging Het
Or12j5 T A 7: 140,083,713 (GRCm39) I220F probably damaging Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or7c70 A G 10: 78,683,395 (GRCm39) M118T probably benign Het
Parg T A 14: 31,984,693 (GRCm39) V241E probably damaging Het
Pitrm1 T A 13: 6,610,101 (GRCm39) V391D probably damaging Het
Plch1 A T 3: 63,648,108 (GRCm39) V421E probably benign Het
Slc27a2 C T 2: 126,406,610 (GRCm39) A98V probably damaging Het
Spta1 A T 1: 174,047,468 (GRCm39) H1704L probably damaging Het
Tbpl2 G A 2: 23,977,245 (GRCm39) P258S possibly damaging Het
Thoc2l T C 5: 104,669,744 (GRCm39) I1422T probably benign Het
Tlr11 T C 14: 50,599,717 (GRCm39) C568R probably benign Het
Tmem260 T A 14: 48,722,437 (GRCm39) M324K probably damaging Het
Tmprss11g T A 5: 86,635,269 (GRCm39) T402S probably damaging Het
Trim21 C G 7: 102,208,813 (GRCm39) R302P probably damaging Het
Uox T A 3: 146,316,057 (GRCm39) Y21* probably null Het
Vmn1r74 A G 7: 11,580,822 (GRCm39) M41V probably benign Het
Vmn2r59 A C 7: 41,695,318 (GRCm39) S365A probably benign Het
Zfp345 A T 2: 150,316,788 (GRCm39) Y6* probably null Het
Other mutations in Zpld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02183:Zpld2 APN 4 133,929,291 (GRCm39) missense probably benign 0.27
IGL03170:Zpld2 APN 4 133,920,345 (GRCm39) missense possibly damaging 0.57
FR4342:Zpld2 UTSW 4 133,929,942 (GRCm39) small insertion probably benign
FR4976:Zpld2 UTSW 4 133,929,941 (GRCm39) small insertion probably benign
R0487:Zpld2 UTSW 4 133,930,089 (GRCm39) missense probably damaging 0.97
R0530:Zpld2 UTSW 4 133,930,221 (GRCm39) missense probably benign
R0553:Zpld2 UTSW 4 133,929,829 (GRCm39) missense possibly damaging 0.85
R1121:Zpld2 UTSW 4 133,930,248 (GRCm39) missense probably benign 0.00
R1458:Zpld2 UTSW 4 133,924,144 (GRCm39) missense probably benign 0.01
R1748:Zpld2 UTSW 4 133,929,430 (GRCm39) missense possibly damaging 0.57
R1748:Zpld2 UTSW 4 133,927,610 (GRCm39) missense probably damaging 1.00
R1913:Zpld2 UTSW 4 133,919,986 (GRCm39) critical splice donor site probably null
R2029:Zpld2 UTSW 4 133,929,669 (GRCm39) missense possibly damaging 0.87
R2069:Zpld2 UTSW 4 133,929,252 (GRCm39) missense possibly damaging 0.63
R2237:Zpld2 UTSW 4 133,929,516 (GRCm39) missense unknown
R2239:Zpld2 UTSW 4 133,929,516 (GRCm39) missense unknown
R3943:Zpld2 UTSW 4 133,927,656 (GRCm39) missense probably benign 0.15
R4646:Zpld2 UTSW 4 133,929,459 (GRCm39) missense probably benign 0.00
R4673:Zpld2 UTSW 4 133,927,658 (GRCm39) missense probably benign 0.01
R4838:Zpld2 UTSW 4 133,920,410 (GRCm39) missense probably benign 0.04
R5002:Zpld2 UTSW 4 133,924,231 (GRCm39) missense probably benign 0.09
R5593:Zpld2 UTSW 4 133,920,350 (GRCm39) missense probably damaging 0.99
R6553:Zpld2 UTSW 4 133,929,367 (GRCm39) missense probably damaging 0.99
R6834:Zpld2 UTSW 4 133,920,476 (GRCm39) missense possibly damaging 0.95
R6931:Zpld2 UTSW 4 133,920,464 (GRCm39) missense probably benign 0.28
R7526:Zpld2 UTSW 4 133,927,384 (GRCm39) splice site probably null
R7771:Zpld2 UTSW 4 133,922,754 (GRCm39) missense probably benign 0.01
R8271:Zpld2 UTSW 4 133,930,278 (GRCm39) missense unknown
R8725:Zpld2 UTSW 4 133,930,150 (GRCm39) missense probably benign 0.19
R8727:Zpld2 UTSW 4 133,930,150 (GRCm39) missense probably benign 0.19
R8757:Zpld2 UTSW 4 133,930,282 (GRCm39) missense unknown
R8966:Zpld2 UTSW 4 133,929,712 (GRCm39) missense probably damaging 0.98
R8992:Zpld2 UTSW 4 133,929,978 (GRCm39) missense probably damaging 0.99
R9039:Zpld2 UTSW 4 133,922,858 (GRCm39) missense probably damaging 0.98
R9275:Zpld2 UTSW 4 133,922,770 (GRCm39) missense probably damaging 1.00
R9278:Zpld2 UTSW 4 133,922,770 (GRCm39) missense probably damaging 1.00
R9434:Zpld2 UTSW 4 133,929,553 (GRCm39) missense probably benign 0.01
R9458:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9460:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9461:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9480:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9481:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9551:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9552:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
R9553:Zpld2 UTSW 4 133,929,312 (GRCm39) missense probably benign 0.36
RF015:Zpld2 UTSW 4 133,920,338 (GRCm39) missense probably benign
T0975:Zpld2 UTSW 4 133,929,940 (GRCm39) small insertion probably benign
Z1176:Zpld2 UTSW 4 133,929,988 (GRCm39) missense probably benign
Z1176:Zpld2 UTSW 4 133,927,649 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GTGTCTTGAAATTTGCAGGCAC -3'
(R):5'- TGTTCCTCTGCAGAACTGTC -3'

Sequencing Primer
(F):5'- CTTGAAATTTGCAGGCACAAAGAAC -3'
(R):5'- CTGTCTAGGGAGATAGCAACCCTG -3'
Posted On 2016-10-26