Incidental Mutation 'R4320:Pira13'
ID 323772
Institutional Source Beutler Lab
Gene Symbol Pira13
Ensembl Gene ENSMUSG00000074419
Gene Name paired-Ig-like receptor A13
Synonyms Gm15448, ENSMUSG00000074419
MMRRC Submission 041661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4320 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 3819780-3828686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3825754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 372 (S372P)
Ref Sequence ENSEMBL: ENSMUSP00000104260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]
AlphaFold F6PZL4
Predicted Effect probably benign
Transcript: ENSMUST00000094911
AA Change: S372P

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: S372P

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 unknown
Transcript: ENSMUST00000108619
AA Change: S372P
SMART Domains Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: S372P

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: S372P

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: S372P

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 unknown
Transcript: ENSMUST00000153846
AA Change: S372P
SMART Domains Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: S372P

DomainStartEndE-ValueType
IG 7 96 8.01e-3 SMART
low complexity region 132 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189095
AA Change: S372P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: S372P

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,740,076 (GRCm39) V826I possibly damaging Het
Arid4a T A 12: 71,116,769 (GRCm39) I609N possibly damaging Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Brix1 A T 15: 10,483,398 (GRCm39) M91K probably damaging Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Cdh10 A G 15: 18,985,251 (GRCm39) D305G probably benign Het
Daxx T C 17: 34,130,393 (GRCm39) L136P probably damaging Het
Fmo1 A T 1: 162,661,200 (GRCm39) L361Q probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm5114 T G 7: 39,057,051 (GRCm39) Y856S probably damaging Het
Grk5 C T 19: 61,080,383 (GRCm39) R576* probably null Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Htr1f T C 16: 64,747,050 (GRCm39) I81V possibly damaging Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Mtf2 T A 5: 108,234,891 (GRCm39) C3S probably damaging Het
Mtmr3 T C 11: 4,437,947 (GRCm39) R836G probably benign Het
Ntrk2 A G 13: 59,007,960 (GRCm39) N241D possibly damaging Het
Or12j2 T A 7: 139,916,219 (GRCm39) I148N possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or7g25 A C 9: 19,160,052 (GRCm39) I214M probably damaging Het
Or7g28 G T 9: 19,272,254 (GRCm39) Y132* probably null Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pax2 T A 19: 44,823,838 (GRCm39) F366I probably damaging Het
Plekha5 A G 6: 140,489,543 (GRCm39) K316E possibly damaging Het
Ppp4r4 T A 12: 103,564,502 (GRCm39) N8K probably damaging Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Sostdc1 C A 12: 36,367,419 (GRCm39) S198R probably benign Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spef2 A T 15: 9,679,429 (GRCm39) I636K possibly damaging Het
Stat4 A G 1: 52,113,866 (GRCm39) N192S probably benign Het
Thoc1 A G 18: 9,960,493 (GRCm39) H66R probably benign Het
Tpr A G 1: 150,299,325 (GRCm39) E1101G possibly damaging Het
Trpa1 G T 1: 14,944,676 (GRCm39) H1023N probably benign Het
Tsen15 A T 1: 152,259,460 (GRCm39) D66E probably damaging Het
Tssk3 A G 4: 129,382,994 (GRCm39) V226A possibly damaging Het
Ufl1 T A 4: 25,278,601 (GRCm39) probably null Het
Usp3 A G 9: 66,437,530 (GRCm39) C258R possibly damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null 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
R1074:Pira13 UTSW 7 3,826,069 (GRCm39) missense probably damaging 1.00
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
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'- TTAGGGCCTCAGAAAATGTTTGG -3'
(R):5'- ACACTGGGATGGTGTGAGAC -3'

Sequencing Primer
(F):5'- TTGGAGAATGATAGTGGGGACTTACC -3'
(R):5'- ATGTAAGAGACGACCTCCTTCTC -3'
Posted On 2015-06-24