Incidental Mutation 'R5549:Prxl2a'
ID 435058
Institutional Source Beutler Lab
Gene Symbol Prxl2a
Ensembl Gene ENSMUSG00000021792
Gene Name peroxiredoxin like 2A
Synonyms 5730469M10Rik, Adrx, Adiporedoxin, Fam213a
MMRRC Submission 043106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R5549 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 40715697-40735745 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40726013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 44 (K44E)
Ref Sequence ENSEMBL: ENSMUSP00000121795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022317] [ENSMUST00000118466] [ENSMUST00000128236] [ENSMUST00000130166] [ENSMUST00000134715] [ENSMUST00000136661] [ENSMUST00000152837] [ENSMUST00000143143] [ENSMUST00000153830]
AlphaFold Q9CYH2
Predicted Effect probably benign
Transcript: ENSMUST00000022317
AA Change: K44E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022317
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:AhpC-TSA 37 130 1.1e-6 PFAM
Pfam:AhpC-TSA_2 83 191 3.2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118466
AA Change: K55E

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112377
Gene: ENSMUSG00000021792
AA Change: K55E

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:AhpC-TSA 48 141 6.6e-7 PFAM
Pfam:AhpC-TSA_2 94 202 5.5e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128236
AA Change: K44E

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120052
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130166
AA Change: K44E

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122866
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
Pfam:AhpC-TSA 37 130 6.2e-7 PFAM
Pfam:AhpC-TSA_2 83 176 2e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134715
AA Change: K44E

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115439
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135797
Predicted Effect possibly damaging
Transcript: ENSMUST00000136661
AA Change: K44E

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121795
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:AhpC-TSA 37 130 8.6e-7 PFAM
Pfam:AhpC-TSA_2 83 191 3.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152837
AA Change: K44E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000143143
AA Change: K44E

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115839
Gene: ENSMUSG00000021792
AA Change: K44E

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
Pfam:AhpC-TSA 37 130 6.1e-7 PFAM
Pfam:AhpC-TSA_2 83 175 5.6e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153830
AA Change: K55E

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117278
Gene: ENSMUSG00000021792
AA Change: K55E

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:AhpC-TSA_2 94 202 5e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,993 (GRCm39) E324G possibly damaging Het
Acad8 C T 9: 26,896,847 (GRCm39) R204Q probably damaging Het
Adgrg7 T G 16: 56,570,790 (GRCm39) T413P probably damaging Het
Ankrd11 A G 8: 123,617,117 (GRCm39) I2224T probably benign Het
Arhgap23 A G 11: 97,357,394 (GRCm39) D964G probably damaging Het
Atf6b A G 17: 34,870,657 (GRCm39) D367G probably damaging Het
Axdnd1 A G 1: 156,226,104 (GRCm39) L131P probably damaging Het
Bmp8b T C 4: 123,018,278 (GRCm39) V383A probably damaging Het
C5ar2 A G 7: 15,970,868 (GRCm39) V353A probably damaging Het
Ccr5 C A 9: 123,925,408 (GRCm39) A337E probably benign Het
Cftr G A 6: 18,227,953 (GRCm39) V382I probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Cyp2d12 A G 15: 82,440,498 (GRCm39) T96A probably benign Het
Diaph3 T G 14: 87,216,106 (GRCm39) I465L probably benign Het
Fabp3 A G 4: 130,209,018 (GRCm39) *134W probably null Het
Fgf22 G T 10: 79,592,696 (GRCm39) M130I probably damaging Het
Flnc G A 6: 29,453,690 (GRCm39) V1792M probably damaging Het
Grik3 G A 4: 125,579,838 (GRCm39) A528T possibly damaging Het
Hecw2 G A 1: 53,964,850 (GRCm39) R659W possibly damaging Het
Hmbs C T 9: 44,250,774 (GRCm39) probably null Het
Ift122 T G 6: 115,868,983 (GRCm39) L490R probably damaging Het
Igkv4-63 T C 6: 69,355,116 (GRCm39) H55R probably damaging Het
Itga4 A T 2: 79,086,611 (GRCm39) N96I probably damaging Het
Kcna7 A T 7: 45,056,063 (GRCm39) H93L probably damaging Het
Klhdc7b A G 15: 89,271,562 (GRCm39) I815V probably benign Het
Lcmt1 G A 7: 123,027,330 (GRCm39) E298K probably damaging Het
Ly6g6f A G 17: 35,302,333 (GRCm39) V68A possibly damaging Het
Map3k8 C T 18: 4,340,762 (GRCm39) C184Y probably damaging Het
Mcemp1 A G 8: 3,718,340 (GRCm39) T183A possibly damaging Het
Mobp T G 9: 119,996,876 (GRCm39) S2R probably damaging Het
Mprip A G 11: 59,651,644 (GRCm39) S1783G probably benign Het
Mterf3 C A 13: 67,076,321 (GRCm39) A129S probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nr2c1 A G 10: 94,003,558 (GRCm39) T239A probably benign Het
Odr4 A G 1: 150,247,909 (GRCm39) S325P possibly damaging Het
Oplah G A 15: 76,182,466 (GRCm39) A963V probably damaging Het
Or13a26 A G 7: 140,284,712 (GRCm39) probably null Het
Parp14 C T 16: 35,661,505 (GRCm39) S1481N probably benign Het
Rictor C T 15: 6,816,391 (GRCm39) T1221M probably damaging Het
Rpe G A 1: 66,755,163 (GRCm39) D182N probably damaging Het
Slc24a3 C A 2: 145,448,784 (GRCm39) P443T probably damaging Het
Slc25a47 T C 12: 108,822,143 (GRCm39) *311Q probably null Het
Sox2 C G 3: 34,705,142 (GRCm39) A193G probably benign Het
Svep1 T C 4: 58,057,954 (GRCm39) S3284G probably benign Het
Zfp369 A T 13: 65,445,194 (GRCm39) H779L probably damaging Het
Zfp513 A T 5: 31,357,947 (GRCm39) L144Q possibly damaging Het
Zfp526 T C 7: 24,925,109 (GRCm39) F456S possibly damaging Het
Zfp791 C T 8: 85,836,835 (GRCm39) G343D probably damaging Het
Zfp941 A C 7: 140,388,021 (GRCm39) I664S possibly damaging Het
Zkscan3 A G 13: 21,578,233 (GRCm39) V189A probably damaging Het
Other mutations in Prxl2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4464:Prxl2a UTSW 14 40,719,832 (GRCm39) missense probably damaging 0.99
R5742:Prxl2a UTSW 14 40,724,460 (GRCm39) missense possibly damaging 0.86
R6761:Prxl2a UTSW 14 40,716,578 (GRCm39) missense probably damaging 0.99
R7014:Prxl2a UTSW 14 40,724,451 (GRCm39) missense probably benign 0.00
R7206:Prxl2a UTSW 14 40,726,142 (GRCm39) missense probably benign 0.00
R8000:Prxl2a UTSW 14 40,716,483 (GRCm39) makesense probably null
R8482:Prxl2a UTSW 14 40,719,723 (GRCm39) missense probably benign 0.01
R8717:Prxl2a UTSW 14 40,720,836 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CAGTTAAGGCGACAACAGTAAC -3'
(R):5'- TGTCCTGTGGGAGCAGTAAC -3'

Sequencing Primer
(F):5'- ACTAATACCAAGATCACCTCTATGTG -3'
(R):5'- CCTGTGGGAGCAGTAACATCTTC -3'
Posted On 2016-10-24