Incidental Mutation 'R7336:Pira2'
ID569486
Institutional Source Beutler Lab
Gene Symbol Pira2
Ensembl Gene ENSMUSG00000089942
Gene Namepaired-Ig-like receptor A2
Synonyms6M23
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R7336 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location3836812-3845051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3844345 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 115 (L115Q)
Ref Sequence ENSEMBL: ENSMUSP00000113857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108615] [ENSMUST00000119469]
Predicted Effect probably damaging
Transcript: ENSMUST00000108615
AA Change: L115Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: L115Q

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 probably damaging
Transcript: ENSMUST00000119469
AA Change: L115Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: L115Q

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 0.3033 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 120,388,233 Q1247H possibly damaging Het
Acsf2 G C 11: 94,571,650 Q180E probably benign Het
Adamts8 A G 9: 30,962,067 D856G probably benign Het
Agrn A T 4: 156,174,914 C828* probably null Het
Ankub1 T C 3: 57,665,687 T205A probably benign Het
Atm A T 9: 53,462,503 Y2150N possibly damaging Het
Barhl1 A G 2: 28,909,843 F257L probably benign Het
Bcat2 T A 7: 45,575,485 C27S probably benign Het
Bod1l G A 5: 41,821,524 R816C probably damaging Het
Btg3 A G 16: 78,364,807 Y172H probably benign Het
C130079G13Rik G A 3: 59,932,753 probably null Het
Cacna1d T C 14: 30,045,282 D1940G probably benign Het
Catsperg2 T A 7: 29,706,601 N624I possibly damaging Het
Ccdc146 A G 5: 21,303,112 V646A probably benign Het
Ccp110 C T 7: 118,722,210 P363S probably damaging Het
Cct4 C A 11: 23,001,564 T377K possibly damaging Het
Cep350 T A 1: 155,862,276 H2607L probably benign Het
Cfap46 A G 7: 139,620,104 F1954L unknown Het
Chat C T 14: 32,423,256 probably null Het
Clasp2 A G 9: 113,876,353 probably null Het
Cldn9 T C 17: 23,683,015 D212G probably benign Het
Cp G A 3: 19,964,532 probably null Het
Cyfip1 T A 7: 55,926,400 I1108N possibly damaging Het
Dnah14 A G 1: 181,797,734 D4060G probably damaging Het
Dpyd A G 3: 119,064,921 T595A probably damaging Het
Eps8 G A 6: 137,509,213 R434C possibly damaging Het
Fasl A G 1: 161,787,988 Y100H probably damaging Het
Fkbp9 A T 6: 56,849,727 N104I probably damaging Het
Frmd4a A G 2: 4,473,214 T65A possibly damaging Het
Gm1110 T C 9: 26,914,357 N102S probably damaging Het
Gm2381 T C 7: 42,822,380 Q25R possibly damaging Het
Gtpbp2 A G 17: 46,161,313 Y58C probably damaging Het
H2-T3 C A 17: 36,187,345 K269N probably damaging Het
Icosl C A 10: 78,073,873 Y217* probably null Het
Il17rd G T 14: 27,087,546 R153L probably benign Het
Kif17 C A 4: 138,298,306 T973K possibly damaging Het
Klk1b16 A G 7: 44,141,483 I236M probably benign Het
Lgmn G A 12: 102,423,739 probably benign Het
Lmbr1l T C 15: 98,913,587 D54G possibly damaging Het
Lrrc49 A T 9: 60,677,191 I196N possibly damaging Het
Maml1 C T 11: 50,266,449 A300T possibly damaging Het
Mapkap1 A T 2: 34,533,817 Q293L possibly damaging Het
Mki67 T C 7: 135,713,839 T69A probably benign Het
Mlph G A 1: 90,921,983 probably null Het
Myh1 A T 11: 67,220,609 M1625L probably benign Het
Myh3 G T 11: 67,091,021 R781L probably benign Het
Nckap5 A T 1: 126,026,049 I922K probably benign Het
Nlrp5 T A 7: 23,417,634 M261K probably damaging Het
Olfr1317 A T 2: 112,142,169 S75C possibly damaging Het
Olfr312 T A 11: 58,831,924 Y257N probably damaging Het
Olfr396-ps1 G A 11: 73,928,837 M204I probably benign Het
Olfr965 A G 9: 39,719,610 N128D probably benign Het
Pak1 T A 7: 97,888,972 V262E probably benign Het
Pigw A T 11: 84,877,104 D466E probably damaging Het
Rbm15 A C 3: 107,333,116 probably benign Het
Rfx1 A G 8: 84,073,756 probably benign Het
Rfx7 A G 9: 72,593,357 Y133C probably damaging Het
Serpinb9d T A 13: 33,200,719 D226E probably benign Het
Sgk3 G A 1: 9,884,476 A271T possibly damaging Het
Sh2d5 T A 4: 138,256,839 C173S probably benign Het
Skint8 T C 4: 111,939,572 V291A probably benign Het
Slc22a27 T A 19: 7,926,689 N28Y probably benign Het
Slc25a54 G A 3: 109,116,435 V449I probably benign Het
Slc39a9 T C 12: 80,679,542 F255S probably damaging Het
Spata31d1c C T 13: 65,036,128 H495Y probably damaging Het
Stab2 G A 10: 86,969,185 Q310* probably null Het
Supt16 C A 14: 52,171,491 A809S possibly damaging Het
Tenm3 A T 8: 48,236,177 M2125K possibly damaging Het
Tex2 G A 11: 106,548,859 T565M unknown Het
Tll1 G A 8: 64,025,142 A859V probably damaging Het
Tmem106c C T 15: 97,969,631 T232I possibly damaging Het
Tmem2 C A 19: 21,826,145 Y847* probably null Het
Trim65 T G 11: 116,128,290 D141A probably benign Het
Trim80 T C 11: 115,441,216 F78S probably damaging Het
Txnrd1 T A 10: 82,873,217 I83N probably benign Het
Vnn3 G A 10: 23,851,908 G72D probably benign Het
Wasl G T 6: 24,619,687 P278Q unknown Het
Wdr62 A T 7: 30,243,917 L951Q probably damaging Het
Zfp760 C T 17: 21,723,833 T663I unknown Het
Other mutations in Pira2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Pira2 APN 7 3844139 missense probably damaging 1.00
IGL01810:Pira2 APN 7 3844612 missense probably damaging 1.00
IGL03167:Pira2 APN 7 3840920 missense probably damaging 0.98
IGL03171:Pira2 APN 7 3842605 missense probably damaging 1.00
PIT4260001:Pira2 UTSW 7 3842170 missense probably benign
PIT4260001:Pira2 UTSW 7 3842173 missense probably benign
PIT4260001:Pira2 UTSW 7 3842174 missense probably benign
R0517:Pira2 UTSW 7 3844197 splice site probably benign
R1565:Pira2 UTSW 7 3844549 missense probably damaging 1.00
R1870:Pira2 UTSW 7 3844453 missense probably damaging 1.00
R2143:Pira2 UTSW 7 3844345 missense probably damaging 1.00
R2144:Pira2 UTSW 7 3844345 missense probably damaging 1.00
R2145:Pira2 UTSW 7 3844345 missense probably damaging 1.00
R2149:Pira2 UTSW 7 3844171 missense probably damaging 1.00
R2171:Pira2 UTSW 7 3844418 missense probably benign 0.08
R3118:Pira2 UTSW 7 3841677 nonsense probably null
R4658:Pira2 UTSW 7 3840934 missense probably damaging 1.00
R5148:Pira2 UTSW 7 3844593 missense possibly damaging 0.62
R5228:Pira2 UTSW 7 3844374 missense probably benign 0.33
R5583:Pira2 UTSW 7 3842546 missense probably benign 0.34
R5974:Pira2 UTSW 7 3841577 missense probably benign 0.27
R6120:Pira2 UTSW 7 3841554 missense probably damaging 1.00
R6122:Pira2 UTSW 7 3842446 missense probably damaging 1.00
R6392:Pira2 UTSW 7 3843902 missense possibly damaging 0.72
R6658:Pira2 UTSW 7 3842301 missense probably benign 0.00
R6790:Pira2 UTSW 7 3842443 missense probably damaging 1.00
R6990:Pira2 UTSW 7 3841068 missense probably damaging 0.99
R7597:Pira2 UTSW 7 3842461 missense probably damaging 1.00
R7768:Pira2 UTSW 7 3841697 missense probably benign
R7777:Pira2 UTSW 7 3841697 missense probably benign
R7861:Pira2 UTSW 7 3844544 missense probably damaging 1.00
R7944:Pira2 UTSW 7 3844544 missense probably damaging 1.00
R8017:Pira2 UTSW 7 3841697 missense probably benign
R8019:Pira2 UTSW 7 3841697 missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGAAGTTACCACTGGGCTG -3'
(R):5'- AATTGGAGCCAATGAGTACCG -3'

Sequencing Primer
(F):5'- CTGAAAGGCTGGGTGTCC -3'
(R):5'- TGAGTACCGCCTCTATAAAGATGG -3'
Posted On2019-09-13