Incidental Mutation 'R9328:Pira13'
ID 706643
Institutional Source Beutler Lab
Gene Symbol Pira13
Ensembl Gene ENSMUSG00000074419
Gene Name paired-Ig-like receptor A13
Synonyms Gm15448, ENSMUSG00000074419
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 3819780-3828686 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3827580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 192 (R192S)
Ref Sequence ENSEMBL: ENSMUSP00000121707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]
AlphaFold F6PZL4
Predicted Effect probably damaging
Transcript: ENSMUST00000094911
AA Change: R192S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: R192S

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
SMART Domains Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: R192S

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 damaging
Transcript: ENSMUST00000108620
AA Change: R192S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: R192S

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: R192S
SMART Domains Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: R192S

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: R192S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: R192S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,272 (GRCm39) T102A probably benign Het
1700109H08Rik A G 5: 3,632,161 (GRCm39) K164E possibly damaging Het
2610042L04Rik C T 14: 4,350,013 (GRCm38) Q74* probably null Het
Aadacl4fm4 T A 4: 144,401,256 (GRCm39) H76L probably benign Het
Adgrb2 T A 4: 129,915,363 (GRCm39) M1381K probably damaging Het
Adgrv1 C A 13: 81,620,523 (GRCm39) D3975Y probably damaging Het
Ano10 C T 9: 122,090,168 (GRCm39) E382K possibly damaging Het
Ascc3 T C 10: 50,535,015 (GRCm39) V636A probably damaging Het
AU040320 T C 4: 126,729,332 (GRCm39) V498A possibly damaging Het
Bahcc1 C T 11: 120,165,885 (GRCm39) T1047I possibly damaging Het
BC004004 A T 17: 29,501,682 (GRCm39) T74S possibly damaging Het
Bend3 A G 10: 43,387,419 (GRCm39) D604G possibly damaging Het
Brinp3 T A 1: 146,707,455 (GRCm39) V373E probably damaging Het
Bsph2 A T 7: 13,290,764 (GRCm39) D38E probably benign Het
Castor1 T C 11: 4,170,423 (GRCm39) F140L probably benign Het
Catsperd A G 17: 56,965,074 (GRCm39) I474V possibly damaging Het
Ccdc180 A G 4: 45,902,447 (GRCm39) N292S possibly damaging Het
Cd1d1 A T 3: 86,905,459 (GRCm39) V178E possibly damaging Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Champ1 A G 8: 13,929,392 (GRCm39) K517E probably damaging Het
Chrna9 T C 5: 66,128,569 (GRCm39) F259S probably damaging Het
Chuk A T 19: 44,085,422 (GRCm39) C241* probably null Het
Clns1a A G 7: 97,363,240 (GRCm39) Y204C probably benign Het
Cplane1 A G 15: 8,215,692 (GRCm39) D416G probably damaging Het
Cyp2j7 A T 4: 96,115,869 (GRCm39) N192K probably damaging Het
Ddr2 A G 1: 169,829,504 (GRCm39) V250A probably benign Het
Dlgap2 A G 8: 14,777,441 (GRCm39) S229G probably damaging Het
Dmrt1 A T 19: 25,523,231 (GRCm39) H194L probably damaging Het
Dock7 A T 4: 98,968,064 (GRCm39) F138I Het
Dsg2 T C 18: 20,715,847 (GRCm39) V263A possibly damaging Het
Dusp16 A G 6: 134,716,902 (GRCm39) L135P probably damaging Het
Dysf A G 6: 84,050,895 (GRCm39) N414S probably damaging Het
Efhc1 A G 1: 21,030,598 (GRCm39) Y177C probably damaging Het
Fam83e A T 7: 45,372,912 (GRCm39) R174S probably benign Het
Fgf4 C T 7: 144,416,664 (GRCm39) L199F probably damaging Het
Fignl2 A G 15: 100,951,271 (GRCm39) L337P unknown Het
Gm4353 T C 7: 115,682,724 (GRCm39) R286G probably damaging Het
Gm5142 T C 14: 59,416,126 (GRCm39) S11G probably benign Het
Gpr151 A G 18: 42,712,270 (GRCm39) V136A probably damaging Het
Ift80 T A 3: 68,847,483 (GRCm39) I338F probably damaging Het
Itgb4 A G 11: 115,880,625 (GRCm39) S693G probably benign Het
Kif13a T A 13: 46,951,838 (GRCm39) I812F probably damaging Het
Krit1 T C 5: 3,862,577 (GRCm39) probably null Het
Mapk6 T C 9: 75,305,252 (GRCm39) D55G possibly damaging Het
Matn3 A G 12: 9,002,033 (GRCm39) I82V possibly damaging Het
Mecom T A 3: 30,063,994 (GRCm39) D32V unknown Het
Nacad T C 11: 6,552,417 (GRCm39) H258R possibly damaging Het
Ndufaf5 T A 2: 140,030,752 (GRCm39) S213T possibly damaging Het
Nphp1 C T 2: 127,582,892 (GRCm39) D674N possibly damaging Het
Nsmaf A G 4: 6,426,412 (GRCm39) L250P probably damaging Het
Ogdh T C 11: 6,297,838 (GRCm39) S571P probably benign Het
Or1e31 T C 11: 73,690,478 (GRCm39) Y35C probably damaging Het
Or51i2 T A 7: 103,689,268 (GRCm39) D88E Het
Or8g27 T C 9: 39,129,175 (GRCm39) I174T probably damaging Het
Osbpl11 A G 16: 33,047,245 (GRCm39) I403V probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plat A G 8: 23,268,133 (GRCm39) R300G probably damaging Het
Ppid T C 3: 79,505,059 (GRCm39) I134T probably damaging Het
Rad51ap2 A G 12: 11,507,772 (GRCm39) I565V probably benign Het
Rasa1 T C 13: 85,403,575 (GRCm39) probably null Het
Sema4a C T 3: 88,345,613 (GRCm39) W490* probably null Het
Septin3 A G 15: 82,173,439 (GRCm39) Y257C probably damaging Het
Sh3rf2 C A 18: 42,274,161 (GRCm39) F442L probably benign Het
Sipa1l1 A G 12: 82,388,792 (GRCm39) I339M possibly damaging Het
Six2 T C 17: 85,995,196 (GRCm39) N62S possibly damaging Het
Slc44a5 T C 3: 153,964,678 (GRCm39) I526T probably benign Het
Smarca5 T C 8: 81,447,378 (GRCm39) S402G probably benign Het
Son T A 16: 91,452,645 (GRCm39) V464E possibly damaging Het
Sorcs3 A G 19: 48,785,950 (GRCm39) K1144E probably damaging Het
Stxbp6 A G 12: 44,902,659 (GRCm39) L204P probably damaging Het
Tchh A G 3: 93,351,570 (GRCm39) R337G unknown Het
Tgm4 T C 9: 122,885,697 (GRCm39) V413A possibly damaging Het
Tmem131 G A 1: 36,858,236 (GRCm39) Q704* probably null Het
Tmpo T C 10: 90,998,825 (GRCm39) K321E probably damaging Het
Trim75 G T 8: 65,435,315 (GRCm39) N378K probably benign Het
Tspan18 T A 2: 93,036,065 (GRCm39) I227F probably benign Het
Ttn C T 2: 76,541,526 (GRCm39) W33820* probably null Het
Urb2 T A 8: 124,774,034 (GRCm39) Y1522N probably damaging Het
Zbtb40 T C 4: 136,745,620 (GRCm39) N138D probably benign Het
Zfp715 A T 7: 42,947,328 (GRCm39) H877Q possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGAATCACTGTTTCCTGTGCTC -3'
(R):5'- AGCCCAGTGGTAACTTCAGG -3'

Sequencing Primer
(F):5'- CTCTGTGTCAACGTTCAAAAGAGC -3'
(R):5'- GTAACTTCAGGAGGGTATGTCAC -3'
Posted On 2022-04-18