Incidental Mutation 'R6819:Pate2'
ID 537521
Institutional Source Beutler Lab
Gene Symbol Pate2
Ensembl Gene ENSMUSG00000074452
Gene Name prostate and testis expressed 2
Synonyms LOC330921, mANLP1
MMRRC Submission 044931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 35580935-35584185 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35581801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 32 (C32S)
Ref Sequence ENSEMBL: ENSMUSP00000113239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098906] [ENSMUST00000118254]
AlphaFold Q3UW31
Predicted Effect possibly damaging
Transcript: ENSMUST00000098906
AA Change: C32S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452
AA Change: C32S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118254
AA Change: C32S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113239
Gene: ENSMUSG00000074452
AA Change: C32S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Adal T A 2: 120,978,794 (GRCm39) I138N probably damaging Het
Arfgap1 T C 2: 180,613,478 (GRCm39) probably null Het
Boc T C 16: 44,313,188 (GRCm39) T559A probably damaging Het
Brip1 A G 11: 86,001,267 (GRCm39) V723A possibly damaging Het
Cnot10 A C 9: 114,444,123 (GRCm39) I424S probably benign Het
Cntnap4 T G 8: 113,529,858 (GRCm39) S689A probably benign Het
Cuzd1 A T 7: 130,911,460 (GRCm39) N506K possibly damaging Het
Dctn3 T A 4: 41,715,259 (GRCm39) T158S possibly damaging Het
Dnai2 A G 11: 114,635,917 (GRCm39) I301V probably benign Het
Ebpl G T 14: 61,578,695 (GRCm39) P180Q probably damaging Het
Epha5 T A 5: 84,254,649 (GRCm39) Y489F probably damaging Het
Frmd8 T C 19: 5,915,208 (GRCm39) N232S probably benign Het
Fuca1 T C 4: 135,660,267 (GRCm39) Y262H probably damaging Het
Gfy T C 7: 44,826,975 (GRCm39) I374V possibly damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Ica1 G T 6: 8,742,288 (GRCm39) T115K probably damaging Het
Igf2bp2 T C 16: 21,879,586 (GRCm39) E511G probably damaging Het
Jag2 C A 12: 112,874,161 (GRCm39) R998L probably damaging Het
Kcnv1 G T 15: 44,972,513 (GRCm39) L457I probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Ms4a8a T A 19: 11,053,743 (GRCm39) H121L probably damaging Het
Muc5b T A 7: 141,412,600 (GRCm39) S1849T unknown Het
Myo10 T C 15: 25,781,496 (GRCm39) V997A possibly damaging Het
Or10g3b A G 14: 52,587,156 (GRCm39) Y116H probably damaging Het
Or10g9b T A 9: 39,917,844 (GRCm39) M134L probably benign Het
Or8g54 T A 9: 39,706,905 (GRCm39) I78N probably benign Het
Per1 G T 11: 68,992,284 (GRCm39) Q179H probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Rbp2 T A 9: 98,391,614 (GRCm39) V130E probably damaging Het
Rictor T A 15: 6,825,517 (GRCm39) probably null Het
Rundc3a A T 11: 102,289,287 (GRCm39) R153* probably null Het
Scrn3 C T 2: 73,149,826 (GRCm39) A174V probably damaging Het
Serpina10 T A 12: 103,594,619 (GRCm39) Q200L probably benign Het
Slc25a51 A T 4: 45,399,365 (GRCm39) I275N possibly damaging Het
Spast C T 17: 74,674,281 (GRCm39) H238Y possibly damaging Het
Speg A T 1: 75,368,456 (GRCm39) I775F possibly damaging Het
Ssh1 G T 5: 114,084,851 (GRCm39) T463K probably benign Het
Tm2d3 A G 7: 65,347,526 (GRCm39) E151G probably damaging Het
Uggt2 A G 14: 119,263,847 (GRCm39) I1061T probably damaging Het
Unc79 T G 12: 103,108,267 (GRCm39) S1941A probably benign Het
Vcan T C 13: 89,853,244 (GRCm39) D572G probably benign Het
Vmn2r16 T G 5: 109,488,412 (GRCm39) S428R probably benign Het
Zeb1 A G 18: 5,591,917 (GRCm39) D3G probably damaging Het
Zfp352 A G 4: 90,112,936 (GRCm39) T359A probably benign Het
Zfp987 C A 4: 146,062,315 (GRCm39) D582E probably benign Het
Zg16 G A 7: 126,649,692 (GRCm39) P90S possibly damaging Het
Other mutations in Pate2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Pate2 APN 9 35,580,998 (GRCm39) start codon destroyed probably null
IGL01729:Pate2 APN 9 35,581,888 (GRCm39) missense probably damaging 1.00
IGL03055:Pate2 APN 9 35,523,069 (GRCm39) splice site probably benign
foie_gras UTSW 9 35,581,797 (GRCm39) nonsense probably null
PIT4576001:Pate2 UTSW 9 35,581,889 (GRCm39) missense probably damaging 1.00
R1229:Pate2 UTSW 9 35,580,991 (GRCm39) missense probably damaging 0.98
R1397:Pate2 UTSW 9 35,580,991 (GRCm39) missense probably damaging 0.98
R2393:Pate2 UTSW 9 35,581,036 (GRCm39) splice site probably benign
R2426:Pate2 UTSW 9 35,581,776 (GRCm39) critical splice acceptor site probably null
R3407:Pate2 UTSW 9 35,582,262 (GRCm39) missense probably damaging 0.99
R4323:Pate2 UTSW 9 35,581,767 (GRCm39) splice site probably benign
R4574:Pate2 UTSW 9 35,596,969 (GRCm39) intron probably benign
R4716:Pate2 UTSW 9 35,596,978 (GRCm39) intron probably benign
R5023:Pate2 UTSW 9 35,597,407 (GRCm39) intron probably benign
R5057:Pate2 UTSW 9 35,597,407 (GRCm39) intron probably benign
R5384:Pate2 UTSW 9 35,581,837 (GRCm39) missense probably damaging 0.98
R5574:Pate2 UTSW 9 35,597,411 (GRCm39) intron probably benign
R5593:Pate2 UTSW 9 35,581,778 (GRCm39) missense possibly damaging 0.76
R5851:Pate2 UTSW 9 35,581,797 (GRCm39) nonsense probably null
R6510:Pate2 UTSW 9 35,581,018 (GRCm39) missense probably null 0.99
R6800:Pate2 UTSW 9 35,596,941 (GRCm39) intron probably benign
R7531:Pate2 UTSW 9 35,582,008 (GRCm39) splice site probably null
R7765:Pate2 UTSW 9 35,581,197 (GRCm39) missense probably benign 0.15
R7842:Pate2 UTSW 9 35,581,829 (GRCm39) missense probably damaging 1.00
R8015:Pate2 UTSW 9 35,581,814 (GRCm39) missense probably damaging 0.99
R8957:Pate2 UTSW 9 35,596,911 (GRCm39) missense probably benign 0.03
R9126:Pate2 UTSW 9 35,581,908 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AACTCGGACCTCCTTAAATGG -3'
(R):5'- TGAAAGGACCTGCTATTTAGAAGAG -3'

Sequencing Primer
(F):5'- TTAAGTTCTAGCCCAGCCAGG -3'
(R):5'- CCTGCTATTTAGAAGAGAAGGTGTG -3'
Posted On 2018-10-18