Incidental Mutation 'R0030:Pqlc2'
ID15363
Institutional Source Beutler Lab
Gene Symbol Pqlc2
Ensembl Gene ENSMUSG00000028744
Gene NamePQ loop repeat containing 2
Synonyms
MMRRC Submission 038324-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R0030 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location139294029-139310708 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 139306453 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 52 (S52P)
Ref Sequence ENSEMBL: ENSMUSP00000101427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000073787] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
Predicted Effect probably damaging
Transcript: ENSMUST00000053862
AA Change: S52P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: S52P

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073787
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 25 47 N/A INTRINSIC
Pfam:Aldo_ket_red 48 356 4.4e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105801
AA Change: S52P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: S52P

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139840
AA Change: S52P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: S52P

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141007
AA Change: S52P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000172747
AA Change: S52P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: S52P

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Meta Mutation Damage Score 0.19 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 68.6%
  • 10x: 42.5%
  • 20x: 22.6%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A C 6: 140,637,747 S316R probably damaging Het
Brwd1 A G 16: 96,021,256 S1250P probably damaging Het
Cacna1s T C 1: 136,094,989 probably null Het
Cass4 G T 2: 172,427,842 E617* probably null Het
Cct4 T C 11: 23,001,357 probably benign Het
Cdh7 C T 1: 110,138,068 Q691* probably null Het
Crip1 G A 12: 113,153,376 probably null Het
Dnah5 A T 15: 28,451,517 D4367V probably benign Het
Dock3 A G 9: 106,912,313 V1514A possibly damaging Het
Eps15l1 A G 8: 72,373,050 S646P probably benign Het
Faap24 A T 7: 35,392,860 F211I probably damaging Het
Flrt3 A T 2: 140,660,317 Y464N probably damaging Het
Foxi2 A G 7: 135,411,616 T192A probably damaging Het
Gm7298 T A 6: 121,774,050 F695L probably benign Het
Ifnk T G 4: 35,152,489 V139G probably benign Het
Kif18a A T 2: 109,333,318 I671L probably benign Het
Lcn10 T C 2: 25,685,081 F154L probably damaging Het
Med12l T G 3: 59,248,655 L1198R probably damaging Het
Mmp23 G A 4: 155,651,311 R268* probably null Het
Mrps30 T C 13: 118,382,995 D298G possibly damaging Het
Myh7 T A 14: 54,991,970 T124S probably benign Het
Odf4 T A 11: 68,926,941 E9D probably benign Het
Ptchd4 T A 17: 42,317,108 C153* probably null Het
Scp2 T A 4: 108,107,690 probably null Het
Slc16a10 A G 10: 40,076,823 V225A probably benign Het
Tbk1 A G 10: 121,561,624 V381A probably benign Het
Tdrd6 T C 17: 43,626,591 K1189E possibly damaging Het
Ttc39a C A 4: 109,422,973 H151N probably benign Het
Ush2a C T 1: 188,822,657 T3544M possibly damaging Het
Vnn1 A G 10: 23,900,846 H365R probably benign Het
Other mutations in Pqlc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Pqlc2 APN 4 139301073 missense probably benign 0.01
palanquin UTSW 4 139306441 critical splice donor site probably null
R0332:Pqlc2 UTSW 4 139300299 missense possibly damaging 0.68
R1558:Pqlc2 UTSW 4 139300080 intron probably benign
R2157:Pqlc2 UTSW 4 139301855 missense probably damaging 1.00
R2518:Pqlc2 UTSW 4 139302499 missense probably damaging 1.00
R3079:Pqlc2 UTSW 4 139306518 missense probably damaging 1.00
R3778:Pqlc2 UTSW 4 139298982 splice site probably null
R4401:Pqlc2 UTSW 4 139306543 missense probably benign 0.19
R4783:Pqlc2 UTSW 4 139300001 missense probably benign 0.00
R4784:Pqlc2 UTSW 4 139300001 missense probably benign 0.00
R4785:Pqlc2 UTSW 4 139300001 missense probably benign 0.00
R4879:Pqlc2 UTSW 4 139301784 splice site probably null
R5126:Pqlc2 UTSW 4 139302532 missense probably benign 0.27
R5540:Pqlc2 UTSW 4 139300344 missense probably damaging 0.99
R5700:Pqlc2 UTSW 4 139300254 missense probably damaging 1.00
R6141:Pqlc2 UTSW 4 139300245 missense probably benign 0.32
R6379:Pqlc2 UTSW 4 139299985 missense probably benign 0.02
R6905:Pqlc2 UTSW 4 139306441 critical splice donor site probably null
Posted On2012-12-17