Incidental Mutation 'R5019:Pate12'
ID 389099
Institutional Source Beutler Lab
Gene Symbol Pate12
Ensembl Gene ENSMUSG00000023093
Gene Name prostate and testis expressed 12
Synonyms Gm7257
MMRRC Submission 042610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5019 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 36343180-36346234 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36343198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 7 (Q7K)
Ref Sequence ENSEMBL: ENSMUSP00000048154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041537]
AlphaFold D3YX25
Predicted Effect probably benign
Transcript: ENSMUST00000041537
AA Change: Q7K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048154
Gene: ENSMUSG00000023093
AA Change: Q7K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,056,760 (GRCm39) W20L probably benign Het
Adamts17 T A 7: 66,711,818 (GRCm39) Y81* probably null Het
Add3 A G 19: 53,231,002 (GRCm39) E559G probably damaging Het
Ahcyl2 A T 6: 29,859,738 (GRCm39) K6M possibly damaging Het
Asb3 A T 11: 31,031,415 (GRCm39) N345I possibly damaging Het
Carm1 T C 9: 21,490,807 (GRCm39) probably null Het
Ip6k2 T A 9: 108,674,945 (GRCm39) probably benign Het
Kdm4c T C 4: 74,261,772 (GRCm39) L649P probably damaging Het
Klra5 T C 6: 129,876,352 (GRCm39) T152A probably benign Het
Mars2 T C 1: 55,276,468 (GRCm39) S24P possibly damaging Het
Mfap2 A T 4: 140,742,569 (GRCm39) T142S probably damaging Het
Miga1 A C 3: 152,028,098 (GRCm39) S144A possibly damaging Het
Nalf1 A G 8: 9,820,240 (GRCm39) V260A probably benign Het
Or2l5 A T 16: 19,334,285 (GRCm39) F34I probably damaging Het
Or4d2b A G 11: 87,779,801 (GRCm39) V307A probably benign Het
Pcdhgb6 A G 18: 37,875,994 (GRCm39) D234G probably damaging Het
Pclo A G 5: 14,764,381 (GRCm39) N4285D unknown Het
Pex1 T C 5: 3,672,331 (GRCm39) S725P probably damaging Het
Pigg A G 5: 108,480,015 (GRCm39) Y430C probably damaging Het
Plcb2 A T 2: 118,542,617 (GRCm39) L818Q probably benign Het
Psmd5 A G 2: 34,755,965 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,845 (GRCm39) V97A probably damaging Het
Tfap2b T C 1: 19,296,666 (GRCm39) V185A probably benign Het
Trim27 T C 13: 21,374,134 (GRCm39) F294L probably damaging Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Ttc28 T A 5: 111,249,930 (GRCm39) H293Q possibly damaging Het
Xkr5 T C 8: 18,992,126 (GRCm39) T88A probably benign Het
Xkr6 T G 14: 64,056,515 (GRCm39) I142S unknown Het
Zfp618 T C 4: 63,021,789 (GRCm39) Y252H probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp809 A G 9: 22,148,998 (GRCm39) D84G probably benign Het
Other mutations in Pate12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Pate12 APN 9 36,344,198 (GRCm39) splice site probably benign
IGL01799:Pate12 APN 9 36,344,179 (GRCm39) missense possibly damaging 0.59
IGL03018:Pate12 APN 9 36,344,723 (GRCm39) missense possibly damaging 0.89
IGL03178:Pate12 APN 9 36,344,132 (GRCm39) missense probably benign
IGL03284:Pate12 APN 9 36,344,759 (GRCm39) missense probably damaging 1.00
R1157:Pate12 UTSW 9 36,344,143 (GRCm39) missense probably benign 0.01
R2032:Pate12 UTSW 9 36,344,195 (GRCm39) critical splice donor site probably null
R4879:Pate12 UTSW 9 36,344,089 (GRCm39) missense probably damaging 1.00
R4954:Pate12 UTSW 9 36,344,156 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- AAAATCTGTGGTATCTATGCCCC -3'
(R):5'- TGAGTGTGCACAGCAGAAGC -3'

Sequencing Primer
(F):5'- CCCCCTGGCTATATGCTCAG -3'
(R):5'- TGCACAGCAGAAGCAAGGG -3'
Posted On 2016-06-06