Incidental Mutation 'R5002:Zpld2'
ID 389984
Institutional Source Beutler Lab
Gene Symbol Zpld2
Ensembl Gene ENSMUSG00000073747
Gene Name zona pellucida like domain containing 2
Synonyms Gm7534
MMRRC Submission 042596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5002 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133918115-133930315 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133924231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 438 (N438I)
Ref Sequence ENSEMBL: ENSMUSP00000095461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097849]
AlphaFold Q3UU21
Predicted Effect probably benign
Transcript: ENSMUST00000097849
AA Change: N438I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: N438I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,852,623 (GRCm39) P736S probably damaging Het
Apbb2 A G 5: 66,470,668 (GRCm39) I523T possibly damaging Het
Casq1 T A 1: 172,040,945 (GRCm39) D281V possibly damaging Het
Catsperb T C 12: 101,486,813 (GRCm39) F447L probably benign Het
Cenpe A T 3: 134,952,842 (GRCm39) M1511L probably benign Het
Cep128 T C 12: 91,222,497 (GRCm39) probably null Het
Col6a6 T C 9: 105,663,292 (GRCm39) T82A probably benign Het
Dna2 A G 10: 62,786,621 (GRCm39) D123G probably damaging Het
Ergic2 A G 6: 148,085,656 (GRCm39) I281T probably benign Het
Fcgbp T A 7: 27,785,528 (GRCm39) probably null Het
Filip1l T C 16: 57,391,466 (GRCm39) Y447H probably benign Het
Flnb T A 14: 7,945,882 (GRCm38) M2429K probably damaging Het
Fn1 T A 1: 71,668,887 (GRCm39) Q686L possibly damaging Het
Gm10644 T C 8: 84,660,216 (GRCm39) D43G possibly damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gpx6 A G 13: 21,497,858 (GRCm39) Y43C probably damaging Het
Hhat A T 1: 192,225,498 (GRCm39) F494I probably benign Het
Itga9 C A 9: 118,492,966 (GRCm39) S287* probably null Het
Lrrk1 C A 7: 65,982,111 (GRCm39) G177W probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Ms4a14 T C 19: 11,281,653 (GRCm39) I302V probably benign Het
Nepn A C 10: 52,267,850 (GRCm39) M39L probably benign Het
Nfil3 C A 13: 53,122,712 (GRCm39) R64L probably damaging Het
Ociad1 T C 5: 73,467,659 (GRCm39) V199A possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Or8k3b C A 2: 86,520,429 (GRCm39) V297L possibly damaging Het
Polk A G 13: 96,625,752 (GRCm39) Y431H probably damaging Het
Prss33 C T 17: 24,054,332 (GRCm39) probably benign Het
Semp2l2b G C 10: 21,943,716 (GRCm39) P88R probably damaging Het
Slc12a7 A G 13: 73,911,896 (GRCm39) N4S possibly damaging Het
Slc29a4 A T 5: 142,704,501 (GRCm39) I348F probably damaging Het
Smarce1 T C 11: 99,115,889 (GRCm39) N44S probably damaging Het
Spast C T 17: 74,676,221 (GRCm39) Q344* probably null Het
Stk11ip C A 1: 75,509,187 (GRCm39) probably benign Het
Tas2r131 T C 6: 132,934,114 (GRCm39) I232V probably benign Het
Tesk1 T C 4: 43,444,573 (GRCm39) Y126H probably damaging Het
Tmpo A G 10: 90,999,976 (GRCm39) V164A possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vwc2l T G 1: 70,768,205 (GRCm39) C43G probably damaging Het
Wnk1 G A 6: 119,914,924 (GRCm39) T1626I probably benign 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
R5593:Zpld2 UTSW 4 133,920,350 (GRCm39) missense probably damaging 0.99
R5606:Zpld2 UTSW 4 133,927,523 (GRCm39) missense probably benign 0.13
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'- AATGAGAACTCAGGGTGGCC -3'
(R):5'- GCTCCGTTTTAAGAGAAGGAAC -3'

Sequencing Primer
(F):5'- CCAGGGCTTAGCTGCAG -3'
(R):5'- AACTTAGGACCCATGGCGTG -3'
Posted On 2016-06-06