Incidental Mutation 'R5540:Pqlc2'
ID435871
Institutional Source Beutler Lab
Gene Symbol Pqlc2
Ensembl Gene ENSMUSG00000028744
Gene NamePQ loop repeat containing 2
Synonyms
MMRRC Submission 043098-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #R5540 (G1)
Quality Score151
Status Not validated
Chromosome4
Chromosomal Location139294029-139310708 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 139300344 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 229 (L229Q)
Ref Sequence ENSEMBL: ENSMUSP00000101427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
Predicted Effect probably damaging
Transcript: ENSMUST00000053862
AA Change: L229Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: L229Q

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: ENSMUST00000105801
AA Change: L229Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: L229Q

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: L229Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: L229Q

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: ENSMUST00000141007
Predicted Effect probably damaging
Transcript: ENSMUST00000172747
AA Change: L229Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: L229Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,362,947 S15P probably damaging Het
Actl7a A T 4: 56,744,388 H305L probably benign Het
Adam26b C A 8: 43,521,617 C116F probably damaging Het
Adgrl2 A G 3: 148,837,562 probably null Het
Akr1b10 A G 6: 34,394,112 T238A probably damaging Het
Akr1c18 A G 13: 4,137,179 V186A probably benign Het
Alpk3 G A 7: 81,095,436 V1311M probably damaging Het
Aox1 A G 1: 58,104,410 N1229S probably benign Het
Apobec3 T A 15: 79,897,919 N43K probably benign Het
Arid1a A C 4: 133,680,454 D2247E unknown Het
Asph A G 4: 9,635,906 L77S probably damaging Het
Cd300ld T A 11: 114,987,405 T94S probably damaging Het
Celf2 T C 2: 6,553,932 T382A probably benign Het
Cfap54 C T 10: 92,972,608 A1402T possibly damaging Het
Chrnb1 A T 11: 69,795,650 V48E probably benign Het
Col6a5 T A 9: 105,862,776 E2548V probably benign Het
Crebrf A G 17: 26,742,097 D56G possibly damaging Het
Dctn5 A G 7: 122,135,052 T40A probably benign Het
Dmxl2 A T 9: 54,393,857 N2323K probably benign Het
Dync1h1 A G 12: 110,660,950 Q4021R probably benign Het
Dyrk1a T G 16: 94,685,343 probably null Het
Ephb3 T A 16: 21,220,860 F454Y probably damaging Het
Fam71b A G 11: 46,404,888 N29S probably damaging Het
Fbxo38 A G 18: 62,514,793 probably null Het
Flg T C 3: 93,277,616 F15S probably damaging Het
Fndc3b G A 3: 27,501,502 P301L probably damaging Het
Fpr-rs7 C T 17: 20,114,094 G45R probably damaging Het
Gfi1 T A 5: 107,720,125 T360S probably damaging Het
Grik4 T C 9: 42,520,947 H918R probably damaging Het
Hpx A G 7: 105,591,912 S385P possibly damaging Het
Kdm5b A G 1: 134,631,241 D1501G probably damaging Het
Kif20b A T 19: 34,938,460 M546L probably benign Het
Map3k9 G T 12: 81,772,813 N222K probably damaging Het
Me1 A G 9: 86,679,873 L53P possibly damaging Het
Mis18bp1 T C 12: 65,148,746 E748G possibly damaging Het
Morc3 T A 16: 93,847,380 N186K probably benign Het
Mtor A G 4: 148,454,708 T221A probably benign Het
Muc6 A G 7: 141,649,585 probably null Het
Myh8 C A 11: 67,286,440 T444N probably benign Het
Myo7b A G 18: 32,007,090 Y216H probably damaging Het
Myom1 G A 17: 71,109,787 V1382M probably damaging Het
Nbeal2 A T 9: 110,631,733 Y1718N probably damaging Het
Npc1l1 A G 11: 6,214,546 S1168P probably damaging Het
Olfr1431 T A 19: 12,210,460 I298N probably damaging Het
Olfr463 T A 11: 87,893,685 K80* probably null Het
Olfr48 A G 2: 89,844,667 F102S probably damaging Het
Olfr561 C T 7: 102,774,929 A135V probably benign Het
Olfr765 G T 10: 129,046,495 D189E probably damaging Het
Pcdha4 C A 18: 36,954,837 A691E probably benign Het
Pde6a T G 18: 61,231,366 F165V probably damaging Het
Ptpn14 A T 1: 189,846,364 M340L probably benign Het
Rnasel G T 1: 153,755,144 E469* probably null Het
Rsph3a T G 17: 7,945,958 L50R probably benign Het
Rusc2 A G 4: 43,423,975 Y1043C probably damaging Het
Serpinb6b A T 13: 32,977,558 K86* probably null Het
Serpine1 T C 5: 137,063,209 T392A probably benign Het
Shcbp1 A T 8: 4,744,529 D421E probably damaging Het
Slc24a1 A G 9: 64,948,581 V348A unknown Het
Slc26a7 A G 4: 14,506,621 F605L probably benign Het
Spag17 A C 3: 100,056,272 E1102A possibly damaging Het
Stab2 A G 10: 86,848,125 V2390A probably benign Het
Stk11 A G 10: 80,126,049 I35V probably benign Het
Stk24 T C 14: 121,294,281 D321G possibly damaging Het
Tbx4 A T 11: 85,911,168 N209I possibly damaging Het
Tmem225 T C 9: 40,149,385 L80P probably damaging Het
Tnfrsf4 C T 4: 156,013,923 T17I probably benign Het
Traf3ip1 G A 1: 91,501,315 R268Q probably benign Het
Trhde T A 10: 114,800,592 I237F probably benign Het
Ugt2a1 A T 5: 87,486,056 W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,680,057 probably benign Het
Vps16 T A 2: 130,442,385 D685E probably benign Het
Washc4 A G 10: 83,573,793 D602G probably damaging Het
Wdr59 A G 8: 111,485,184 L377P possibly damaging Het
Wdr81 T C 11: 75,449,070 E1364G probably damaging 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
R0030:Pqlc2 UTSW 4 139306453 missense probably damaging 1.00
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
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
R7315:Pqlc2 UTSW 4 139301870 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCACACTGAAGCAGAGG -3'
(R):5'- ACCAGCTAGGAGTATGTGTCATGG -3'

Sequencing Primer
(F):5'- ACTGAAGCAGAGGCCGTCTTG -3'
(R):5'- ACTGTGGCTGCATAGATTAGGC -3'
Posted On2016-10-24