Incidental Mutation 'R8310:Psd2'
ID 641355
Institutional Source Beutler Lab
Gene Symbol Psd2
Ensembl Gene ENSMUSG00000024347
Gene Name pleckstrin and Sec7 domain containing 2
Synonyms EFA6C, 6330404E20Rik
MMRRC Submission 067795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8310 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 36097883-36147768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36112766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 154 (S154C)
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: S154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: S154C

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: S154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: S154C

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: S154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
AA Change: S154C

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: S154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: S154C

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: S154C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: S154C

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 0.1562 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
Allele List at MGI

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

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T G 13: 48,667,727 (GRCm39) W10G unknown Het
Abca13 A T 11: 9,328,269 (GRCm39) K3447N possibly damaging Het
Agtr1a T G 13: 30,565,745 (GRCm39) V270G probably benign Het
Apob A T 12: 8,059,033 (GRCm39) H2505L probably benign Het
Babam1 T A 8: 71,850,629 (GRCm39) V86D possibly damaging Het
Cacna1s C A 1: 136,015,075 (GRCm39) N654K probably damaging Het
Ccdc146 A T 5: 21,506,469 (GRCm39) probably benign Het
Ccdc8 T C 7: 16,729,326 (GRCm39) S272P probably damaging Het
Cnksr1 T C 4: 133,956,730 (GRCm39) E510G probably damaging Het
Cnot6l A T 5: 96,239,535 (GRCm39) D255E probably benign Het
Ddx1 A C 12: 13,274,280 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,492,650 (GRCm39) T628A probably benign Het
Elavl1 A T 8: 4,351,786 (GRCm39) I110N probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Erich3 C T 3: 154,410,586 (GRCm39) T147I Het
Galnt1 A T 18: 24,404,686 (GRCm39) H341L probably damaging Het
Gm14325 A T 2: 177,473,592 (GRCm39) C497S probably damaging Het
Gm4922 A T 10: 18,659,536 (GRCm39) N395K probably benign Het
Hsd17b2 G A 8: 118,469,155 (GRCm39) C189Y probably damaging Het
Kcnn1 A T 8: 71,305,449 (GRCm39) S254T possibly damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Lrpprc A G 17: 85,080,524 (GRCm39) Y199H probably damaging Het
Lrrtm3 A T 10: 63,925,487 (GRCm39) probably null Het
Mon2 G T 10: 122,838,688 (GRCm39) A1598E probably damaging Het
Myh3 A T 11: 66,986,833 (GRCm39) probably null Het
Naa11 A T 5: 97,539,737 (GRCm39) D140E probably damaging Het
Nadk2 G A 15: 9,103,420 (GRCm39) R350Q probably benign Het
Npc1 T C 18: 12,326,455 (GRCm39) I1162V probably damaging Het
Or4e1 A G 14: 52,701,280 (GRCm39) M62T probably damaging Het
Or5v1 T C 17: 37,810,148 (GRCm39) I202T probably benign Het
Otogl A T 10: 107,613,461 (GRCm39) N2001K possibly damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pi4ka A G 16: 17,171,912 (GRCm39) probably null Het
Ppp2r5c A T 12: 110,512,259 (GRCm39) T185S possibly damaging Het
Rnasel G A 1: 153,630,734 (GRCm39) V417M possibly damaging Het
Slc35g2 A G 9: 100,434,841 (GRCm39) S277P probably damaging Het
Slc36a2 A T 11: 55,070,158 (GRCm39) W140R possibly damaging Het
Slc6a12 A G 6: 121,340,250 (GRCm39) K512E probably damaging Het
Sox7 C T 14: 64,181,275 (GRCm39) S24L probably benign Het
Specc1 A G 11: 62,023,171 (GRCm39) K659E probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Syne1 A G 10: 5,297,829 (GRCm39) M1156T probably benign Het
Tars2 T A 3: 95,658,271 (GRCm39) I185F probably benign Het
Thsd7a T C 6: 12,396,612 (GRCm39) I839V Het
Vmn1r115 T C 7: 20,578,819 (GRCm39) N31S probably damaging Het
Vmn1r57 A G 7: 5,224,024 (GRCm39) D183G probably damaging Het
Wdr7 C T 18: 63,868,756 (GRCm39) T275I probably damaging Het
Ybx2 A G 11: 69,831,194 (GRCm39) E263G probably damaging Het
Zbtb6 G T 2: 37,319,896 (GRCm39) Q11K probably benign Het
Zfp329 A T 7: 12,544,116 (GRCm39) C469* probably null Het
Zfp868 A T 8: 70,066,446 (GRCm39) L40H 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
R7239:Psd2 UTSW 18 36,113,472 (GRCm39) missense probably damaging 1.00
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
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'- ATGCGTGTTCAGCTCCTAGC -3'
(R):5'- AAGACATTCTCTGAGCGGC -3'

Sequencing Primer
(F):5'- GCTCCTAGCTAGAGACTGGTG -3'
(R):5'- TAGAGATGGACCGCCTCAG -3'
Posted On 2020-07-28