Incidental Mutation 'R1074:Pira13'
ID 85568
Institutional Source Beutler Lab
Gene Symbol Pira13
Ensembl Gene ENSMUSG00000074419
Gene Name paired-Ig-like receptor A13
Synonyms Gm15448, ENSMUSG00000074419
MMRRC Submission 039160-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1074 (G1)
Quality Score 124
Status Validated
Chromosome 7
Chromosomal Location 3819780-3828686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3826069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 308 (D308G)
Ref Sequence ENSEMBL: ENSMUSP00000140974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]
AlphaFold F6PZL4
Predicted Effect probably damaging
Transcript: ENSMUST00000094911
AA Change: D308G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: D308G

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG 430 519 8.01e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108619
AA Change: D308G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: D308G

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG_like 429 517 6.02e0 SMART
IG 529 618 8.01e-3 SMART
low complexity region 637 646 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108620
AA Change: D308G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: D308G

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG 430 519 8.01e-3 SMART
low complexity region 538 547 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153846
AA Change: D308G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: D308G

DomainStartEndE-ValueType
IG 7 96 8.01e-3 SMART
low complexity region 132 141 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189095
AA Change: D308G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: D308G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG_like 40 105 1.3e-2 SMART
IG 129 315 5.7e-4 SMART
IG_like 237 302 9e-4 SMART
IG 328 415 2.6e-3 SMART
IG_like 429 517 2.4e-2 SMART
IG 529 618 3.3e-5 SMART
Meta Mutation Damage Score 0.7454 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,912,421 (GRCm39) S98P probably damaging Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acbd3 C T 1: 180,566,113 (GRCm39) Q269* probably null Het
Ankrd6 T C 4: 32,822,232 (GRCm39) H179R probably damaging Het
Ano1 T A 7: 144,165,417 (GRCm39) N603Y probably damaging Het
Catsperg1 T C 7: 28,906,274 (GRCm39) E143G probably damaging Het
Epha5 G T 5: 84,298,254 (GRCm39) A383E probably damaging Het
Epha5 C T 5: 84,298,255 (GRCm39) A383T probably damaging Het
Epn1 T C 7: 5,098,047 (GRCm39) V286A probably benign Het
Fam117b C T 1: 59,997,485 (GRCm39) A279V possibly damaging Het
Impg2 G A 16: 56,085,541 (GRCm39) probably benign Het
Man1a2 C T 3: 100,563,402 (GRCm39) R81H possibly damaging Het
Medag G T 5: 149,335,674 (GRCm39) V78L probably benign Het
Meioc C T 11: 102,566,219 (GRCm39) H612Y probably damaging Het
Nab2 G A 10: 127,499,124 (GRCm39) Q385* probably null Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Or10p1 T C 10: 129,444,335 (GRCm39) N5S probably damaging Het
Or2n1 T C 17: 38,486,331 (GRCm39) S119P probably damaging Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhga1 A G 18: 37,958,140 (GRCm39) probably benign Het
Pik3c2a G A 7: 115,950,160 (GRCm39) R1286* probably null Het
Plk3 T C 4: 116,988,955 (GRCm39) E268G probably damaging Het
Pzp T A 6: 128,464,887 (GRCm39) N1329I probably benign Het
Reps1 A G 10: 17,970,194 (GRCm39) T264A probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spata31e2 T C 1: 26,722,307 (GRCm39) K958E probably benign Het
Srarp T A 4: 141,160,707 (GRCm39) D42V probably damaging Het
Srbd1 T A 17: 86,311,380 (GRCm39) H679L probably damaging Het
Tbc1d2b G A 9: 90,104,393 (GRCm39) P583L possibly damaging Het
Vmn2r22 T C 6: 123,626,217 (GRCm39) D73G probably benign Het
Zfp512b A T 2: 181,230,972 (GRCm39) S374R probably damaging Het
Other mutations in Pira13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pira13 APN 7 3,826,088 (GRCm39) missense probably damaging 1.00
IGL01675:Pira13 APN 7 3,825,607 (GRCm39) splice site probably benign
IGL02040:Pira13 APN 7 3,824,516 (GRCm39) splice site probably benign
IGL02547:Pira13 APN 7 3,824,660 (GRCm39) missense probably damaging 0.98
IGL02749:Pira13 APN 7 3,825,624 (GRCm39) missense probably damaging 1.00
IGL02822:Pira13 APN 7 3,819,917 (GRCm39) missense possibly damaging 0.50
IGL02883:Pira13 APN 7 3,825,179 (GRCm39) missense possibly damaging 0.95
IGL03140:Pira13 APN 7 3,826,247 (GRCm39) missense probably benign 0.00
IGL03185:Pira13 APN 7 3,826,229 (GRCm39) missense probably damaging 1.00
IGL03212:Pira13 APN 7 3,826,132 (GRCm39) missense probably benign 0.00
R0347:Pira13 UTSW 7 3,825,873 (GRCm39) missense probably damaging 1.00
R0652:Pira13 UTSW 7 3,825,762 (GRCm39) missense probably benign 0.02
R0668:Pira13 UTSW 7 3,825,699 (GRCm39) missense probably damaging 0.99
R0724:Pira13 UTSW 7 3,819,871 (GRCm39) missense possibly damaging 0.83
R0735:Pira13 UTSW 7 3,824,781 (GRCm39) missense possibly damaging 0.79
R1339:Pira13 UTSW 7 3,825,155 (GRCm39) missense probably damaging 1.00
R1541:Pira13 UTSW 7 3,819,988 (GRCm39) missense probably damaging 1.00
R1570:Pira13 UTSW 7 3,826,060 (GRCm39) missense probably benign 0.45
R1880:Pira13 UTSW 7 3,827,950 (GRCm39) critical splice donor site probably null
R1892:Pira13 UTSW 7 3,827,573 (GRCm39) missense probably benign 0.15
R1909:Pira13 UTSW 7 3,825,918 (GRCm39) missense probably benign 0.31
R2881:Pira13 UTSW 7 3,828,640 (GRCm39) start codon destroyed probably null 0.98
R2967:Pira13 UTSW 7 3,825,686 (GRCm39) missense probably damaging 1.00
R2983:Pira13 UTSW 7 3,824,574 (GRCm39) missense probably damaging 1.00
R4213:Pira13 UTSW 7 3,824,553 (GRCm39) missense probably damaging 1.00
R4319:Pira13 UTSW 7 3,825,754 (GRCm39) missense possibly damaging 0.46
R4320:Pira13 UTSW 7 3,825,754 (GRCm39) missense possibly damaging 0.46
R4321:Pira13 UTSW 7 3,825,754 (GRCm39) missense possibly damaging 0.46
R4322:Pira13 UTSW 7 3,825,754 (GRCm39) missense possibly damaging 0.46
R4323:Pira13 UTSW 7 3,825,754 (GRCm39) missense possibly damaging 0.46
R4536:Pira13 UTSW 7 3,825,251 (GRCm39) missense probably benign 0.00
R4597:Pira13 UTSW 7 3,825,154 (GRCm39) missense possibly damaging 0.81
R4713:Pira13 UTSW 7 3,825,680 (GRCm39) nonsense probably null
R4725:Pira13 UTSW 7 3,824,547 (GRCm39) missense probably benign
R4934:Pira13 UTSW 7 3,825,676 (GRCm39) missense probably damaging 1.00
R4971:Pira13 UTSW 7 3,825,805 (GRCm39) missense probably benign 0.00
R5138:Pira13 UTSW 7 3,827,556 (GRCm39) nonsense probably null
R5805:Pira13 UTSW 7 3,825,622 (GRCm39) missense probably benign 0.15
R5824:Pira13 UTSW 7 3,827,753 (GRCm39) missense probably damaging 1.00
R5841:Pira13 UTSW 7 3,825,898 (GRCm39) nonsense probably null
R6027:Pira13 UTSW 7 3,827,638 (GRCm39) missense possibly damaging 0.94
R6214:Pira13 UTSW 7 3,824,717 (GRCm39) missense probably damaging 0.99
R6329:Pira13 UTSW 7 3,825,850 (GRCm39) missense probably damaging 1.00
R6429:Pira13 UTSW 7 3,825,345 (GRCm39) missense possibly damaging 0.63
R6650:Pira13 UTSW 7 3,819,898 (GRCm39) missense possibly damaging 0.83
R6681:Pira13 UTSW 7 3,825,251 (GRCm39) missense probably benign 0.00
R6961:Pira13 UTSW 7 3,828,124 (GRCm39) missense probably damaging 1.00
R6989:Pira13 UTSW 7 3,825,163 (GRCm39) missense possibly damaging 0.95
R7025:Pira13 UTSW 7 3,824,261 (GRCm39) nonsense probably null
R7071:Pira13 UTSW 7 3,824,667 (GRCm39) missense unknown
R7194:Pira13 UTSW 7 3,827,792 (GRCm39) missense
R7215:Pira13 UTSW 7 3,825,310 (GRCm39) missense unknown
R7580:Pira13 UTSW 7 3,827,611 (GRCm39) missense unknown
R7776:Pira13 UTSW 7 3,826,246 (GRCm39) missense unknown
R7863:Pira13 UTSW 7 3,827,801 (GRCm39) critical splice acceptor site probably null
R7909:Pira13 UTSW 7 3,824,708 (GRCm39) missense unknown
R8131:Pira13 UTSW 7 3,825,161 (GRCm39) nonsense probably null
R8178:Pira13 UTSW 7 3,824,260 (GRCm39) missense unknown
R8188:Pira13 UTSW 7 3,826,126 (GRCm39) missense unknown
R8220:Pira13 UTSW 7 3,825,903 (GRCm39) missense unknown
R8226:Pira13 UTSW 7 3,828,109 (GRCm39) missense
R8441:Pira13 UTSW 7 3,826,301 (GRCm39) nonsense probably null
R8739:Pira13 UTSW 7 3,828,188 (GRCm39) missense
R8785:Pira13 UTSW 7 3,819,928 (GRCm39) missense unknown
R8912:Pira13 UTSW 7 3,825,818 (GRCm39) missense unknown
R8941:Pira13 UTSW 7 3,825,380 (GRCm39) missense probably damaging 1.00
R8990:Pira13 UTSW 7 3,824,273 (GRCm39) missense unknown
R9049:Pira13 UTSW 7 3,819,890 (GRCm39) missense unknown
R9090:Pira13 UTSW 7 3,819,997 (GRCm39) missense unknown
R9134:Pira13 UTSW 7 3,825,182 (GRCm39) missense
R9136:Pira13 UTSW 7 3,826,285 (GRCm39) missense
R9244:Pira13 UTSW 7 3,825,226 (GRCm39) missense unknown
R9271:Pira13 UTSW 7 3,819,997 (GRCm39) missense unknown
R9328:Pira13 UTSW 7 3,827,580 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GCACAGTGGAGTGTCATGTTTCCTC -3'
(R):5'- CCTCCGAAAGAGCAATGACCATCTG -3'

Sequencing Primer
(F):5'- TGCTGTCACCACAGTGC -3'
(R):5'- TCAGGGGAACCTGGATGC -3'
Posted On 2013-11-18