Incidental Mutation 'R1339:Pira13'
ID 156958
Institutional Source Beutler Lab
Gene Symbol Pira13
Ensembl Gene ENSMUSG00000074419
Gene Name paired-Ig-like receptor A13
Synonyms Gm15448, ENSMUSG00000074419
MMRRC Submission 039404-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1339 (G1)
Quality Score 123
Status Not validated
Chromosome 7
Chromosomal Location 3819780-3828686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3825155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 496 (Y496H)
Ref Sequence ENSEMBL: ENSMUSP00000140974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]
AlphaFold F6PZL4
Predicted Effect probably benign
Transcript: ENSMUST00000094911
SMART Domains Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419

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: Y496H
SMART Domains Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: Y496H

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 probably benign
Transcript: ENSMUST00000108620
SMART Domains Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419

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: Y496H
SMART Domains Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: Y496H

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: Y496H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: Y496H

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adamts20 A T 15: 94,220,777 (GRCm39) N1385K probably benign Het
Cplane2 A G 4: 140,945,859 (GRCm39) E134G probably damaging Het
Cyp4a32 A G 4: 115,468,760 (GRCm39) Y382C probably damaging Het
Dtnbp1 G A 13: 45,076,696 (GRCm39) S237L probably damaging Het
Foxi1 T C 11: 34,155,866 (GRCm39) T255A probably benign Het
Ifi208 A C 1: 173,510,804 (GRCm39) T320P probably damaging Het
Inhbc C A 10: 127,193,510 (GRCm39) V169L probably benign Het
Irf7 G A 7: 140,843,617 (GRCm39) R320C probably damaging Het
Marchf6 T C 15: 31,486,548 (GRCm39) T336A probably benign Het
Masp1 C A 16: 23,271,217 (GRCm39) C677F probably damaging Het
Mei1 A G 15: 81,966,196 (GRCm39) R323G possibly damaging Het
Or2a7 G C 6: 43,151,544 (GRCm39) G208A probably benign Het
Or6k8-ps1 G T 1: 173,979,777 (GRCm39) G232C probably damaging Het
Rel C T 11: 23,695,763 (GRCm39) C208Y probably damaging Het
Shc2 T G 10: 79,462,250 (GRCm39) T298P probably benign Het
Syne1 G A 10: 5,317,571 (GRCm39) L508F probably damaging Het
Ubn1 A G 16: 4,873,199 (GRCm39) K74E 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
R1074:Pira13 UTSW 7 3,826,069 (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'- AGGATTCCCGTATCCATCCTAGCC -3'
(R):5'- AAGAAGCCCTCTCTGCTGACTCAC -3'

Sequencing Primer
(F):5'- GTATCCATCCTAGCCATAAGCTC -3'
(R):5'- TATCCTGGACCCTGGAATGAC -3'
Posted On 2014-02-11