Incidental Mutation 'IGL02960:Pira12'
ID 365294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pira12
Ensembl Gene ENSMUSG00000074417
Gene Name paired-Ig-like receptor A12
Synonyms Gm14548
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02960
Quality Score
Status
Chromosome 7
Chromosomal Location 3887241-3901119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3900078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 175 (T175A)
Ref Sequence ENSEMBL: ENSMUSP00000070073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070639]
AlphaFold E9Q1Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000070639
AA Change: T175A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: T175A

DomainStartEndE-ValueType
IG 34 118 6.41e-2 SMART
IG 129 315 8.59e-3 SMART
IG_like 237 302 1.91e-1 SMART
IG 328 415 3.36e0 SMART
IG_like 435 502 3.11e0 SMART
IG 529 618 8.59e-3 SMART
low complexity region 627 636 N/A INTRINSIC
low complexity region 654 663 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,257 (GRCm39) R14C probably benign Het
Adam29 A T 8: 56,325,701 (GRCm39) L251* probably null Het
Atpaf2 T C 11: 60,296,650 (GRCm39) E161G probably damaging Het
Brwd1 T C 16: 95,858,666 (GRCm39) D381G probably damaging Het
Cept1 T A 3: 106,446,712 (GRCm39) R45* probably null Het
Col3a1 A G 1: 45,367,615 (GRCm39) E273G unknown Het
Cuzd1 T C 7: 130,921,832 (GRCm39) N57D probably benign Het
Cyp2b13 A G 7: 25,761,101 (GRCm39) K53E probably benign Het
Fadd T C 7: 144,134,276 (GRCm39) E203G probably benign Het
Gm3159 G A 14: 4,400,552 (GRCm38) probably null Het
Gpr137c T C 14: 45,483,890 (GRCm39) F206L possibly damaging Het
Hephl1 G T 9: 14,995,615 (GRCm39) T471N probably damaging Het
Ido1 A T 8: 25,083,345 (GRCm39) probably benign Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lrp2 T A 2: 69,285,797 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,147,025 (GRCm39) L613H probably damaging Het
Mettl14 A G 3: 123,168,534 (GRCm39) Y169H probably damaging Het
Nlrp4a A G 7: 26,149,155 (GRCm39) Q254R probably benign Het
Or4c15 A C 2: 88,760,128 (GRCm39) M177R possibly damaging Het
Or7c70 A T 10: 78,683,371 (GRCm39) I126N probably damaging Het
Pkhd1 A T 1: 20,447,670 (GRCm39) M2241K possibly damaging Het
Ptprd G A 4: 76,047,105 (GRCm39) S387L probably damaging Het
Ryr1 A C 7: 28,759,478 (GRCm39) L3264R probably damaging Het
Serpina16 G A 12: 103,641,638 (GRCm39) T29I probably benign Het
Slc9a7 A G X: 20,052,382 (GRCm39) M237T probably benign Het
Tbck A G 3: 132,428,544 (GRCm39) T300A probably benign Het
Tcaf1 A C 6: 42,663,393 (GRCm39) D162E probably benign Het
Unc80 G A 1: 66,717,217 (GRCm39) probably benign Het
Usp17le A C 7: 104,417,947 (GRCm39) H398Q probably benign Het
Utp15 G A 13: 98,389,389 (GRCm39) T303M probably benign Het
Vmn2r86 A C 10: 130,289,636 (GRCm39) D86E possibly damaging Het
Zmym2 T A 14: 57,175,870 (GRCm39) C822S probably benign Het
Zp3r T C 1: 130,511,175 (GRCm39) D336G possibly damaging Het
Zpr1 A G 9: 46,184,849 (GRCm39) H82R probably damaging Het
Other mutations in Pira12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Pira12 APN 7 3,900,385 (GRCm39) splice site probably benign
IGL01358:Pira12 APN 7 3,898,686 (GRCm39) missense probably benign 0.41
IGL01868:Pira12 APN 7 3,900,174 (GRCm39) nonsense probably null
IGL02421:Pira12 APN 7 3,899,994 (GRCm39) missense possibly damaging 0.87
IGL02544:Pira12 APN 7 3,900,185 (GRCm39) missense probably damaging 0.96
IGL02973:Pira12 APN 7 3,900,239 (GRCm39) missense probably damaging 1.00
PIT4495001:Pira12 UTSW 7 3,900,457 (GRCm39) missense probably damaging 1.00
R0761:Pira12 UTSW 7 3,896,978 (GRCm39) critical splice donor site probably null
R1917:Pira12 UTSW 7 3,900,637 (GRCm39) missense probably damaging 1.00
R1920:Pira12 UTSW 7 3,900,871 (GRCm39) missense probably damaging 0.98
R2219:Pira12 UTSW 7 3,900,488 (GRCm39) missense probably benign 0.10
R2220:Pira12 UTSW 7 3,900,488 (GRCm39) missense probably benign 0.10
R4991:Pira12 UTSW 7 3,898,571 (GRCm39) missense probably benign 0.37
R5271:Pira12 UTSW 7 3,900,566 (GRCm39) nonsense probably null
R5909:Pira12 UTSW 7 3,900,621 (GRCm39) missense probably damaging 1.00
R6008:Pira12 UTSW 7 3,897,599 (GRCm39) missense probably damaging 1.00
R6193:Pira12 UTSW 7 3,901,049 (GRCm39) critical splice donor site probably null
R6218:Pira12 UTSW 7 3,897,031 (GRCm39) missense possibly damaging 0.65
R6219:Pira12 UTSW 7 3,897,640 (GRCm39) missense probably damaging 1.00
R6650:Pira12 UTSW 7 3,898,632 (GRCm39) missense probably benign 0.15
R6879:Pira12 UTSW 7 3,899,961 (GRCm39) missense probably benign 0.40
R6987:Pira12 UTSW 7 3,900,660 (GRCm39) missense probably damaging 0.99
R7082:Pira12 UTSW 7 3,898,510 (GRCm39) missense probably damaging 1.00
R7087:Pira12 UTSW 7 3,900,218 (GRCm39) missense probably benign 0.08
R7144:Pira12 UTSW 7 3,900,615 (GRCm39) missense probably damaging 1.00
R7298:Pira12 UTSW 7 3,898,264 (GRCm39) missense possibly damaging 0.92
R7359:Pira12 UTSW 7 3,901,103 (GRCm39) start gained probably benign
R7751:Pira12 UTSW 7 3,898,603 (GRCm39) missense probably damaging 1.00
R7810:Pira12 UTSW 7 3,897,204 (GRCm39) missense probably damaging 1.00
R8344:Pira12 UTSW 7 3,899,954 (GRCm39) missense possibly damaging 0.93
R8428:Pira12 UTSW 7 3,898,257 (GRCm39) missense probably benign 0.02
R8875:Pira12 UTSW 7 3,897,256 (GRCm39) missense probably damaging 0.98
R8943:Pira12 UTSW 7 3,898,365 (GRCm39) missense probably benign 0.11
R9045:Pira12 UTSW 7 3,897,547 (GRCm39) missense possibly damaging 0.92
R9125:Pira12 UTSW 7 3,900,021 (GRCm39) missense possibly damaging 0.62
R9129:Pira12 UTSW 7 3,898,500 (GRCm39) critical splice donor site probably null
R9224:Pira12 UTSW 7 3,900,234 (GRCm39) missense probably benign 0.13
R9427:Pira12 UTSW 7 3,897,284 (GRCm39) critical splice acceptor site probably null
R9777:Pira12 UTSW 7 3,897,612 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18