Incidental Mutation 'R7239:Psd2'
ID 563113
Institutional Source Beutler Lab
Gene Symbol Psd2
Ensembl Gene ENSMUSG00000024347
Gene Name pleckstrin and Sec7 domain containing 2
Synonyms EFA6C, 6330404E20Rik
MMRRC Submission 045346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7239 (G1)
Quality Score 193.009
Status Validated
Chromosome 18
Chromosomal Location 36097883-36147768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36113472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 315 (A315T)
Ref Sequence ENSEMBL: ENSMUSP00000135795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115716] [ENSMUST00000175734] [ENSMUST00000176472] [ENSMUST00000176873] [ENSMUST00000177432]
AlphaFold Q6P1I6
Predicted Effect probably damaging
Transcript: ENSMUST00000115716
AA Change: A315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: A315T

DomainStartEndE-ValueType
low complexity region 153 169 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Sec7 270 461 4.69e-56 SMART
PH 510 624 4.35e-14 SMART
Blast:Sec7 653 705 4e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000175734
AA Change: A315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: A315T

DomainStartEndE-ValueType
low complexity region 153 169 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Sec7 270 462 4.1e-55 SMART
PH 511 625 1.9e-16 SMART
Blast:Sec7 654 706 4e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000176472
AA Change: A315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
AA Change: A315T

DomainStartEndE-ValueType
low complexity region 153 169 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Sec7 270 461 4.69e-56 SMART
Pfam:PH_9 511 553 4.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176873
AA Change: A315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: A315T

DomainStartEndE-ValueType
low complexity region 153 169 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Sec7 270 462 4.2e-55 SMART
PH 511 625 1.9e-16 SMART
Blast:Sec7 654 706 4e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000177432
AA Change: A315T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: A315T

DomainStartEndE-ValueType
low complexity region 153 169 N/A INTRINSIC
low complexity region 216 234 N/A INTRINSIC
low complexity region 247 264 N/A INTRINSIC
Sec7 270 461 4.69e-56 SMART
PH 510 621 5.36e-14 SMART
Blast:Sec7 650 702 4e-24 BLAST
Meta Mutation Damage Score 0.9180 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,472,268 (GRCm39) V144A probably damaging Het
Abca5 A T 11: 110,217,530 (GRCm39) Y109N possibly damaging Het
Abcb5 T C 12: 118,892,460 (GRCm39) Q433R probably benign Het
Adamts7 G A 9: 90,068,610 (GRCm39) probably null Het
Adgrv1 T C 13: 81,624,731 (GRCm39) D3746G possibly damaging Het
Arhgap29 C T 3: 121,782,599 (GRCm39) S159L probably benign Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Atp1a3 G A 7: 24,700,129 (GRCm39) P77L probably damaging Het
B4galt1 T C 4: 40,812,754 (GRCm39) D257G probably damaging Het
Bin1 T A 18: 32,539,224 (GRCm39) N52K probably damaging Het
Catsperg2 A G 7: 29,409,507 (GRCm39) M562T probably benign Het
Ccdc33 G A 9: 57,940,192 (GRCm39) Q713* probably null Het
Cd96 A T 16: 45,929,477 (GRCm39) L156Q probably damaging Het
Clpb A G 7: 101,360,662 (GRCm39) T231A probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnmt3a A T 12: 3,922,850 (GRCm39) Q151L probably benign Het
Dock2 C T 11: 34,181,677 (GRCm39) V1629M probably benign Het
Edem1 G A 6: 108,831,341 (GRCm39) D601N probably benign Het
Eno2 C T 6: 124,745,228 (GRCm39) V20M probably damaging Het
Eny2 A C 15: 44,297,250 (GRCm39) D52A probably benign Het
Esp36 T C 17: 38,728,132 (GRCm39) R93G possibly damaging Het
Fam227a A G 15: 79,518,263 (GRCm39) probably null Het
Fat4 C A 3: 39,037,989 (GRCm39) H3880Q possibly damaging Het
Fbxw24 A T 9: 109,434,598 (GRCm39) V334E possibly damaging Het
Flrt1 T C 19: 7,073,329 (GRCm39) Q406R probably benign Het
Frmpd2 A G 14: 33,274,034 (GRCm39) N1092S probably benign Het
Gm904 C A 13: 50,799,287 (GRCm39) T82K probably benign Het
Gnas G C 2: 174,140,408 (GRCm39) G252R unknown Het
Gpatch2l A G 12: 86,307,349 (GRCm39) probably null Het
H2ac6 A T 13: 23,867,593 (GRCm39) I103N probably damaging Het
Ift74 T C 4: 94,541,187 (GRCm39) V204A probably benign Het
Ikzf4 A G 10: 128,477,113 (GRCm39) L119P probably damaging Het
Ing3 G A 6: 21,952,193 (GRCm39) E56K probably damaging Het
Klhl25 T C 7: 75,516,516 (GRCm39) I474T probably benign Het
Klhl5 T C 5: 65,318,529 (GRCm39) V556A probably damaging Het
Krt14 A T 11: 100,095,081 (GRCm39) M382K probably benign Het
Lmcd1 T C 6: 112,292,745 (GRCm39) V199A possibly damaging Het
Lpcat4 T A 2: 112,073,052 (GRCm39) F200I possibly damaging Het
Lrp1b T C 2: 40,894,725 (GRCm39) T2282A Het
Lrrk1 T C 7: 65,911,903 (GRCm39) T1886A probably benign Het
Meis2 T C 2: 115,889,484 (GRCm39) probably null Het
Mki67 C T 7: 135,301,905 (GRCm39) R1043K possibly damaging Het
Myct1 G T 10: 5,554,601 (GRCm39) R156L possibly damaging Het
Nckap5l G T 15: 99,324,090 (GRCm39) H804Q probably damaging Het
Ndst3 T G 3: 123,400,555 (GRCm39) E450D probably damaging Het
Nipbl A T 15: 8,321,619 (GRCm39) probably null Het
Npy A G 6: 49,800,587 (GRCm39) N4D probably benign Het
Or7g35 A T 9: 19,496,487 (GRCm39) Y218F probably damaging Het
Osgin2 T C 4: 16,008,748 (GRCm39) S18G probably benign Het
Pcdha9 T G 18: 37,131,551 (GRCm39) F207V probably benign Het
Pcdhb13 A T 18: 37,577,697 (GRCm39) I692F probably damaging Het
Pde3b T A 7: 114,015,384 (GRCm39) V200E probably damaging Het
Ppp6r3 A T 19: 3,543,981 (GRCm39) L345I probably benign Het
Rnf111 G A 9: 70,376,655 (GRCm39) T328I probably damaging Het
Rnf213 T C 11: 119,349,614 (GRCm39) L3825P Het
Rtl1 C T 12: 109,558,909 (GRCm39) V977I probably benign Het
Scn1a G A 2: 66,108,000 (GRCm39) probably null Het
Slc25a2 G T 18: 37,770,748 (GRCm39) N260K probably benign Het
Sprtn T C 8: 125,626,983 (GRCm39) V121A probably damaging Het
Ssx2ip T G 3: 146,133,771 (GRCm39) L260W probably damaging Het
Syde1 G A 10: 78,424,615 (GRCm39) R406C probably damaging Het
Tab1 A G 15: 80,017,372 (GRCm39) R6G probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,385,020 (GRCm39) V526I possibly damaging Het
Tfap2b T C 1: 19,304,404 (GRCm39) F405L probably damaging Het
Trbv13-1 C A 6: 41,093,325 (GRCm39) T87K probably benign Het
Trmt44 G T 5: 35,732,130 (GRCm39) A87E probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T C 2: 76,617,634 (GRCm39) D16279G probably damaging Het
Ttn G A 2: 76,711,672 (GRCm39) R8290C unknown Het
Ugt2b37 T A 5: 87,402,590 (GRCm39) I14L probably benign Het
Vmn1r13 A T 6: 57,187,611 (GRCm39) M257L probably benign Het
Vmn1r184 C T 7: 25,966,602 (GRCm39) P116L possibly damaging Het
Zfp426 T C 9: 20,381,887 (GRCm39) T367A probably benign Het
Zfp647 A T 15: 76,795,956 (GRCm39) C235S probably damaging Het
Other mutations in Psd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Psd2 APN 18 36,113,388 (GRCm39) missense probably benign 0.00
IGL01578:Psd2 APN 18 36,112,838 (GRCm39) missense probably damaging 1.00
IGL02086:Psd2 APN 18 36,138,959 (GRCm39) missense probably damaging 1.00
IGL02132:Psd2 APN 18 36,137,809 (GRCm39) splice site probably benign
IGL02480:Psd2 APN 18 36,139,136 (GRCm39) missense probably damaging 1.00
IGL02726:Psd2 APN 18 36,120,355 (GRCm39) critical splice donor site probably null
recluse UTSW 18 36,112,764 (GRCm39) missense probably damaging 1.00
widow UTSW 18 36,113,478 (GRCm39) missense probably damaging 0.99
3-1:Psd2 UTSW 18 36,117,454 (GRCm39) missense probably damaging 1.00
R0103:Psd2 UTSW 18 36,137,770 (GRCm39) missense probably damaging 1.00
R0103:Psd2 UTSW 18 36,137,770 (GRCm39) missense probably damaging 1.00
R0320:Psd2 UTSW 18 36,112,697 (GRCm39) missense probably damaging 1.00
R0573:Psd2 UTSW 18 36,113,546 (GRCm39) splice site probably benign
R0685:Psd2 UTSW 18 36,136,044 (GRCm39) missense possibly damaging 0.90
R0698:Psd2 UTSW 18 36,145,764 (GRCm39) missense probably benign 0.22
R0730:Psd2 UTSW 18 36,111,627 (GRCm39) missense possibly damaging 0.85
R0971:Psd2 UTSW 18 36,112,839 (GRCm39) missense probably damaging 1.00
R1085:Psd2 UTSW 18 36,145,830 (GRCm39) missense probably benign 0.10
R1535:Psd2 UTSW 18 36,138,843 (GRCm39) missense probably benign 0.31
R2056:Psd2 UTSW 18 36,139,744 (GRCm39) missense possibly damaging 0.60
R4011:Psd2 UTSW 18 36,120,300 (GRCm39) missense probably benign 0.01
R4246:Psd2 UTSW 18 36,139,172 (GRCm39) missense probably damaging 1.00
R4335:Psd2 UTSW 18 36,140,583 (GRCm39) missense probably damaging 0.96
R4584:Psd2 UTSW 18 36,145,881 (GRCm39) missense probably benign
R4942:Psd2 UTSW 18 36,111,717 (GRCm39) missense probably damaging 1.00
R5120:Psd2 UTSW 18 36,112,863 (GRCm39) missense possibly damaging 0.92
R5373:Psd2 UTSW 18 36,140,556 (GRCm39) missense probably damaging 1.00
R5374:Psd2 UTSW 18 36,140,556 (GRCm39) missense probably damaging 1.00
R5839:Psd2 UTSW 18 36,140,577 (GRCm39) missense probably damaging 0.97
R6200:Psd2 UTSW 18 36,139,776 (GRCm39) splice site probably null
R6925:Psd2 UTSW 18 36,112,764 (GRCm39) missense probably damaging 1.00
R6967:Psd2 UTSW 18 36,113,385 (GRCm39) missense probably damaging 0.97
R7074:Psd2 UTSW 18 36,143,737 (GRCm39) missense probably benign 0.03
R7142:Psd2 UTSW 18 36,113,097 (GRCm39) missense possibly damaging 0.85
R7348:Psd2 UTSW 18 36,113,389 (GRCm39) missense possibly damaging 0.85
R7581:Psd2 UTSW 18 36,113,050 (GRCm39) missense probably benign 0.01
R7793:Psd2 UTSW 18 36,136,032 (GRCm39) missense probably benign 0.37
R8221:Psd2 UTSW 18 36,113,478 (GRCm39) missense probably damaging 0.99
R8310:Psd2 UTSW 18 36,112,766 (GRCm39) missense probably damaging 1.00
R8939:Psd2 UTSW 18 36,121,292 (GRCm39) missense probably damaging 0.98
R9463:Psd2 UTSW 18 36,143,798 (GRCm39) missense probably damaging 0.98
X0065:Psd2 UTSW 18 36,135,995 (GRCm39) missense possibly damaging 0.92
Z1177:Psd2 UTSW 18 36,111,333 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCCCCACAGTGGATTTTCAGAG -3'
(R):5'- CCTTGAAAGCCTAGTGGGAG -3'

Sequencing Primer
(F):5'- CCACAGTGGATTTTCAGAGACCTG -3'
(R):5'- AAAGCCTAGTGGGAGCTCCTG -3'
Posted On 2019-06-26