Incidental Mutation 'R6392:Pira2'
ID 515804
Institutional Source Beutler Lab
Gene Symbol Pira2
Ensembl Gene ENSMUSG00000089942
Gene Name paired-Ig-like receptor A2
Synonyms 6M23
MMRRC Submission 044541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6392 (G1)
Quality Score 155.008
Status Validated
Chromosome 7
Chromosomal Location 3839811-3848050 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3846901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 214 (S214T)
Ref Sequence ENSEMBL: ENSMUSP00000113857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108615] [ENSMUST00000119469]
AlphaFold F8VQ94
Predicted Effect possibly damaging
Transcript: ENSMUST00000108615
AA Change: S214T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: S214T

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 34 118 2.39e-1 SMART
IG_like 129 220 1.94e1 SMART
IG 231 315 7.77e-1 SMART
IG 328 415 3.36e0 SMART
IG_like 435 502 3.18e0 SMART
IG 529 618 8.59e-3 SMART
low complexity region 654 663 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119469
AA Change: S214T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: S214T

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 34 118 2.39e-1 SMART
IG_like 129 220 1.94e1 SMART
IG 231 315 7.77e-1 SMART
IG 328 415 3.36e0 SMART
IG_like 435 502 3.18e0 SMART
IG 529 618 8.59e-3 SMART
low complexity region 637 646 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.1%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,825,526 (GRCm39) I330F probably damaging Het
Abcc9 A G 6: 142,627,825 (GRCm39) S402P probably damaging Het
Ada A G 2: 163,570,137 (GRCm39) L292P probably damaging Het
Adam34l A T 8: 44,079,038 (GRCm39) N395K probably benign Het
Adra1d T C 2: 131,403,529 (GRCm39) D187G probably damaging Het
AI467606 C A 7: 126,691,717 (GRCm39) Y97* probably null Het
Arid2 A G 15: 96,259,483 (GRCm39) E245G probably damaging Het
Ccdc78 C G 17: 26,007,148 (GRCm39) Q213E probably damaging Het
Cntnap1 G T 11: 101,077,472 (GRCm39) D1045Y probably damaging Het
Ctcf T C 8: 106,390,765 (GRCm39) V124A probably damaging Het
Cutc T C 19: 43,748,489 (GRCm39) S129P possibly damaging Het
Dhx36 T C 3: 62,401,790 (GRCm39) I308V probably benign Het
Disp2 T C 2: 118,621,230 (GRCm39) V654A probably damaging Het
Esm1 G A 13: 113,346,283 (GRCm39) probably benign Het
Extl1 C T 4: 134,091,945 (GRCm39) V303I probably benign Het
Ezh1 G T 11: 101,094,630 (GRCm39) D387E probably damaging Het
Fbf1 T A 11: 116,043,775 (GRCm39) probably null Het
Fbxl12 T C 9: 20,550,472 (GRCm39) H84R probably damaging Het
Fbxo6 C T 4: 148,230,462 (GRCm39) V267I probably benign Het
Helz G T 11: 107,493,167 (GRCm39) A197S possibly damaging Het
Ikbke T C 1: 131,202,883 (GRCm39) probably null Het
Kbtbd13 A G 9: 65,297,619 (GRCm39) F439S possibly damaging Het
Kif7 G A 7: 79,351,934 (GRCm39) R943W probably damaging Het
Lrp12 C T 15: 39,735,415 (GRCm39) C839Y probably damaging Het
Matr3 A G 18: 35,717,894 (GRCm39) D364G probably benign Het
Ncam1 T C 9: 49,434,875 (GRCm39) K624E probably damaging Het
Nup205 T C 6: 35,166,820 (GRCm39) S280P possibly damaging Het
Or4a66 A T 2: 88,531,011 (GRCm39) Y221N probably damaging Het
Or52a33 A C 7: 103,288,889 (GRCm39) C153G probably benign Het
Prss3b T C 6: 41,009,306 (GRCm39) Y176C probably damaging Het
Ptpn4 T A 1: 119,700,853 (GRCm39) I30F probably benign Het
Rnf144a T C 12: 26,360,779 (GRCm39) I253V possibly damaging Het
Sh3pxd2b T A 11: 32,373,302 (GRCm39) L823Q possibly damaging Het
Sh3rf3 A T 10: 58,842,898 (GRCm39) D288V probably damaging Het
Shprh T A 10: 11,054,485 (GRCm39) Y1031* probably null Het
Sidt1 T C 16: 44,111,657 (GRCm39) T173A possibly damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Ssh3 C T 19: 4,315,399 (GRCm39) R309H probably benign Het
Tagap G T 17: 8,152,893 (GRCm39) G693W probably damaging Het
Tango2 T A 16: 18,119,403 (GRCm39) I143F probably damaging Het
Thsd7a T C 6: 12,468,928 (GRCm39) H550R probably damaging Het
Tmem131 T A 1: 36,920,423 (GRCm39) Q92H probably benign Het
Tnfrsf21 T C 17: 43,327,979 (GRCm39) L31P probably benign Het
Ttn A T 2: 76,730,487 (GRCm39) probably benign Het
Ubash3b T C 9: 40,926,268 (GRCm39) D493G probably damaging Het
Unc13a C T 8: 72,090,453 (GRCm39) G1411D possibly damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfc3h1 A T 10: 115,237,653 (GRCm39) R477S probably damaging Het
Zfp87 C T 13: 67,664,986 (GRCm39) R492K probably benign Het
Other mutations in Pira2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Pira2 APN 7 3,847,138 (GRCm39) missense probably damaging 1.00
IGL01810:Pira2 APN 7 3,847,611 (GRCm39) missense probably damaging 1.00
IGL03167:Pira2 APN 7 3,843,919 (GRCm39) missense probably damaging 0.98
IGL03171:Pira2 APN 7 3,845,604 (GRCm39) missense probably damaging 1.00
BB009:Pira2 UTSW 7 3,845,435 (GRCm39) critical splice donor site probably null
BB019:Pira2 UTSW 7 3,845,435 (GRCm39) critical splice donor site probably null
PIT4260001:Pira2 UTSW 7 3,845,173 (GRCm39) missense probably benign
PIT4260001:Pira2 UTSW 7 3,845,169 (GRCm39) missense probably benign
PIT4260001:Pira2 UTSW 7 3,845,172 (GRCm39) missense probably benign
R0517:Pira2 UTSW 7 3,847,196 (GRCm39) splice site probably benign
R1565:Pira2 UTSW 7 3,847,548 (GRCm39) missense probably damaging 1.00
R1870:Pira2 UTSW 7 3,847,452 (GRCm39) missense probably damaging 1.00
R2143:Pira2 UTSW 7 3,847,344 (GRCm39) missense probably damaging 1.00
R2144:Pira2 UTSW 7 3,847,344 (GRCm39) missense probably damaging 1.00
R2145:Pira2 UTSW 7 3,847,344 (GRCm39) missense probably damaging 1.00
R2149:Pira2 UTSW 7 3,847,170 (GRCm39) missense probably damaging 1.00
R2171:Pira2 UTSW 7 3,847,417 (GRCm39) missense probably benign 0.08
R3118:Pira2 UTSW 7 3,844,676 (GRCm39) nonsense probably null
R4658:Pira2 UTSW 7 3,843,933 (GRCm39) missense probably damaging 1.00
R5148:Pira2 UTSW 7 3,847,592 (GRCm39) missense possibly damaging 0.62
R5228:Pira2 UTSW 7 3,847,373 (GRCm39) missense probably benign 0.33
R5583:Pira2 UTSW 7 3,845,545 (GRCm39) missense probably benign 0.34
R5974:Pira2 UTSW 7 3,844,576 (GRCm39) missense probably benign 0.27
R6120:Pira2 UTSW 7 3,844,553 (GRCm39) missense probably damaging 1.00
R6122:Pira2 UTSW 7 3,845,445 (GRCm39) missense probably damaging 1.00
R6658:Pira2 UTSW 7 3,845,300 (GRCm39) missense probably benign 0.00
R6790:Pira2 UTSW 7 3,845,442 (GRCm39) missense probably damaging 1.00
R6990:Pira2 UTSW 7 3,844,067 (GRCm39) missense probably damaging 0.99
R7336:Pira2 UTSW 7 3,847,344 (GRCm39) missense probably damaging 1.00
R7597:Pira2 UTSW 7 3,845,460 (GRCm39) missense probably damaging 1.00
R7768:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R7777:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R7861:Pira2 UTSW 7 3,847,543 (GRCm39) missense probably damaging 1.00
R7932:Pira2 UTSW 7 3,845,435 (GRCm39) critical splice donor site probably null
R7977:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R7984:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R7985:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R7987:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R8017:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R8017:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R8019:Pira2 UTSW 7 3,844,696 (GRCm39) missense probably benign
R8389:Pira2 UTSW 7 3,846,888 (GRCm39) missense probably damaging 1.00
R8972:Pira2 UTSW 7 3,845,070 (GRCm39) missense probably damaging 1.00
R8998:Pira2 UTSW 7 3,845,490 (GRCm39) missense probably damaging 1.00
R9350:Pira2 UTSW 7 3,844,030 (GRCm39) missense probably benign 0.04
R9766:Pira2 UTSW 7 3,845,517 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- GACTGTCACTGTGAGTCTTGGAC -3'
(R):5'- GTATGTCACCCTCCAGTGTGAG -3'

Sequencing Primer
(F):5'- AGTCTTGGACTCACTGTTTCCTGTG -3'
(R):5'- CATTTTGACTGTAGCAGGACCACAG -3'
Posted On 2018-05-04