Incidental Mutation 'R9295:Phykpl'
ID 704563
Institutional Source Beutler Lab
Gene Symbol Phykpl
Ensembl Gene ENSMUSG00000020359
Gene Name 5-phosphohydroxy-L-lysine phospholyase
Synonyms Agxt2l2, 2900006B13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R9295 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51474751-51494091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51482231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 115 (E115G)
Ref Sequence ENSEMBL: ENSMUSP00000020625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000101250] [ENSMUST00000167797]
AlphaFold Q8R1K4
Predicted Effect possibly damaging
Transcript: ENSMUST00000020625
AA Change: E115G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
AA Change: E115G

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 27 433 2.1e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101250
AA Change: E115G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
AA Change: E115G

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 212 8.2e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167797
AA Change: E115G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
AA Change: E115G

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Pfam:Aminotran_3 33 373 1.5e-75 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene overlaps in a tail-to-tail orientation the gene encoding heterogeneous nuclear ribonucleoprotein A/B. The terminal exon of this gene is interspersed with exons of heterogeneous nuclear ribonucleoprotein A/B. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,116 (GRCm39) V7E probably benign Het
Adam17 A G 12: 21,399,938 (GRCm39) V156A probably benign Het
Ankrd6 A T 4: 32,822,160 (GRCm39) V236E probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
C2cd3 C A 7: 100,081,734 (GRCm39) D1125E Het
Cacna2d2 A G 9: 107,386,419 (GRCm39) E182G probably benign Het
Cct3 A G 3: 88,212,430 (GRCm39) K139E probably benign Het
Cd96 G T 16: 45,938,244 (GRCm39) Q74K probably benign Het
Cdk5rap1 A T 2: 154,194,186 (GRCm39) I373N probably damaging Het
Cep350 A T 1: 155,738,051 (GRCm39) Y2597* probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clcn1 G A 6: 42,290,883 (GRCm39) G919E probably benign Het
Col6a4 G A 9: 105,957,734 (GRCm39) A30V probably damaging Het
Copa T C 1: 171,939,823 (GRCm39) C655R probably damaging Het
Cpt1a T A 19: 3,428,441 (GRCm39) V605E probably damaging Het
Ddx46 T C 13: 55,811,599 (GRCm39) I600T possibly damaging Het
Dhx9 C A 1: 153,340,673 (GRCm39) V656L probably damaging Het
Dnhd1 T A 7: 105,363,348 (GRCm39) M3970K probably benign Het
Ercc5 G T 1: 44,198,017 (GRCm39) V145F probably damaging Het
Erv3 T C 2: 131,697,979 (GRCm39) T127A possibly damaging Het
Fcer1a T C 1: 173,050,174 (GRCm39) Y172C probably damaging Het
Gabra1 A G 11: 42,044,217 (GRCm39) M167T probably damaging Het
Ggt1 A G 10: 75,421,743 (GRCm39) H530R probably benign Het
Gli2 C A 1: 118,764,996 (GRCm39) V1052L probably damaging Het
Gm4491 A C 14: 57,351,140 (GRCm39) F84C unknown Het
Irf2bp1 C T 7: 18,739,740 (GRCm39) T460I probably benign Het
Klf3 A G 5: 64,980,240 (GRCm39) Y187C possibly damaging Het
Krt80 T C 15: 101,249,652 (GRCm39) E287G probably benign Het
Lama4 G T 10: 38,948,747 (GRCm39) V837F probably damaging Het
Lrig3 G T 10: 125,850,722 (GRCm39) C1096F probably benign Het
Mtrr T C 13: 68,719,258 (GRCm39) R328G possibly damaging Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Obsl1 A T 1: 75,476,721 (GRCm39) D744E probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4x13 G A 2: 90,231,441 (GRCm39) M145I probably benign Het
Pde4b A G 4: 102,112,478 (GRCm39) T21A probably damaging Het
Phf20l1 G A 15: 66,513,752 (GRCm39) G1003D probably damaging Het
Phtf1 A G 3: 103,904,893 (GRCm39) T514A probably benign Het
Pramel20 A G 4: 143,298,704 (GRCm39) T216A possibly damaging Het
Pxmp2 C A 5: 110,433,944 (GRCm39) probably benign Het
Reln A G 5: 22,209,209 (GRCm39) L1123P possibly damaging Het
Rusc2 T C 4: 43,416,382 (GRCm39) S563P probably damaging Het
Secisbp2 T G 13: 51,808,483 (GRCm39) S83A probably damaging Het
Sema3c T A 5: 17,932,495 (GRCm39) M666K probably benign Het
Serbp1 G T 6: 67,248,208 (GRCm39) D114Y probably damaging Het
Sh3d21 T A 4: 126,045,276 (GRCm39) T468S possibly damaging Het
Shroom3 T A 5: 93,098,478 (GRCm39) D1319E probably benign Het
Skida1 T C 2: 18,051,386 (GRCm39) R502G unknown Het
Slc25a12 C A 2: 71,128,986 (GRCm39) G314C possibly damaging Het
Smg8 A G 11: 86,968,789 (GRCm39) V989A probably benign Het
Spon2 G A 5: 33,373,844 (GRCm39) P156S probably damaging Het
Stx1a A G 5: 135,066,370 (GRCm39) N50S probably benign Het
Tmem151b C A 17: 45,857,806 (GRCm39) V147L probably benign Het
Trim12c C T 7: 103,990,391 (GRCm39) G362D unknown Het
Tsr1 T C 11: 74,799,135 (GRCm39) V772A probably damaging Het
Tti2 A T 8: 31,643,550 (GRCm39) K222* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r60 A G 7: 5,547,218 (GRCm39) M294T probably null Het
Vmn2r6 T C 3: 64,463,484 (GRCm39) E450G probably benign Het
Vmn2r60 T A 7: 41,785,955 (GRCm39) F253I probably benign Het
Wnk4 A T 11: 101,160,078 (GRCm39) D649V probably damaging Het
Zfhx4 T C 3: 5,394,525 (GRCm39) S1040P probably benign Het
Zfp112 C T 7: 23,824,805 (GRCm39) R262C probably benign Het
Zfp287 T A 11: 62,606,115 (GRCm39) D264V probably benign Het
Zfp46 T C 4: 136,017,876 (GRCm39) C237R probably damaging Het
Zfp773 C T 7: 7,135,694 (GRCm39) E301K probably benign Het
Zswim2 A C 2: 83,748,304 (GRCm39) V292G probably benign Het
Other mutations in Phykpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Phykpl APN 11 51,490,283 (GRCm39) splice site probably benign
IGL01809:Phykpl APN 11 51,490,351 (GRCm39) missense probably benign 0.09
IGL02636:Phykpl APN 11 51,489,540 (GRCm39) missense probably damaging 1.00
IGL02668:Phykpl APN 11 51,484,514 (GRCm39) critical splice donor site probably null
R0114:Phykpl UTSW 11 51,477,480 (GRCm39) missense probably benign 0.00
R0308:Phykpl UTSW 11 51,484,423 (GRCm39) splice site probably benign
R0332:Phykpl UTSW 11 51,477,502 (GRCm39) missense probably benign 0.30
R0831:Phykpl UTSW 11 51,476,366 (GRCm39) nonsense probably null
R3434:Phykpl UTSW 11 51,489,482 (GRCm39) missense probably benign
R4272:Phykpl UTSW 11 51,476,355 (GRCm39) missense probably damaging 1.00
R4539:Phykpl UTSW 11 51,484,915 (GRCm39) missense probably damaging 1.00
R4618:Phykpl UTSW 11 51,483,056 (GRCm39) missense probably damaging 1.00
R4633:Phykpl UTSW 11 51,484,435 (GRCm39) missense probably damaging 1.00
R4816:Phykpl UTSW 11 51,483,780 (GRCm39) missense probably benign
R4823:Phykpl UTSW 11 51,477,420 (GRCm39) missense probably damaging 0.99
R5415:Phykpl UTSW 11 51,476,342 (GRCm39) missense probably benign 0.00
R5920:Phykpl UTSW 11 51,493,622 (GRCm39) missense probably benign
R6370:Phykpl UTSW 11 51,477,543 (GRCm39) missense probably damaging 1.00
R6611:Phykpl UTSW 11 51,489,181 (GRCm39) missense probably damaging 1.00
R6617:Phykpl UTSW 11 51,484,781 (GRCm39) missense probably damaging 1.00
R7319:Phykpl UTSW 11 51,489,530 (GRCm39) missense probably benign 0.20
R7340:Phykpl UTSW 11 51,490,370 (GRCm39) missense probably damaging 1.00
R7499:Phykpl UTSW 11 51,482,285 (GRCm39) missense probably damaging 1.00
R7947:Phykpl UTSW 11 51,477,408 (GRCm39) missense probably damaging 0.98
R8146:Phykpl UTSW 11 51,476,408 (GRCm39) missense probably damaging 1.00
R8353:Phykpl UTSW 11 51,489,121 (GRCm39) missense probably damaging 1.00
R8453:Phykpl UTSW 11 51,489,121 (GRCm39) missense probably damaging 1.00
R9101:Phykpl UTSW 11 51,483,741 (GRCm39) missense probably benign 0.05
R9157:Phykpl UTSW 11 51,490,375 (GRCm39) missense probably benign 0.10
R9794:Phykpl UTSW 11 51,489,212 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACCCTATGCCCAGTGTTG -3'
(R):5'- CAGGTTCTCATACCTCACTGGC -3'

Sequencing Primer
(F):5'- CCTTTAATAACAGCACTTGGGAGGC -3'
(R):5'- TCATACCTCACTGGCTTCTAATG -3'
Posted On 2022-03-25