Incidental Mutation 'R2330:Etnppl'
ID 245830
Institutional Source Beutler Lab
Gene Symbol Etnppl
Ensembl Gene ENSMUSG00000019232
Gene Name ethanolamine phosphate phospholyase
Synonyms Agxt2l1, 1300019H02Rik
MMRRC Submission 040321-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R2330 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 130411097-130429399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130424224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 332 (L332P)
Ref Sequence ENSEMBL: ENSMUSP00000131294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072271] [ENSMUST00000163620] [ENSMUST00000166187]
AlphaFold Q8BWU8
Predicted Effect probably damaging
Transcript: ENSMUST00000072271
AA Change: L332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: L332P

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 373 2.6e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163620
AA Change: L326P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: L326P

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 367 1.6e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166187
AA Change: L332P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: L332P

DomainStartEndE-ValueType
Pfam:Aminotran_3 26 433 1.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170664
SMART Domains Protein: ENSMUSP00000128425
Gene: ENSMUSG00000019232

DomainStartEndE-ValueType
Pfam:Aminotran_3 2 120 4.4e-29 PFAM
Meta Mutation Damage Score 0.9703 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (31/31)
Allele List at MGI

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

Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9a A G 2: 168,481,849 (GRCm39) S958P probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Clasp2 T C 9: 113,705,372 (GRCm39) V594A probably damaging Het
Col12a1 A G 9: 79,540,939 (GRCm39) I2396T probably damaging Het
Col1a2 T A 6: 4,528,300 (GRCm39) probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnaja3 T A 16: 4,507,880 (GRCm39) D127E probably benign Het
Gm4559 A T 7: 141,827,833 (GRCm39) C90S unknown Het
Gramd1c T C 16: 43,803,566 (GRCm39) N616D probably benign Het
Hmcn1 A G 1: 150,528,429 (GRCm39) probably benign Het
Hydin C A 8: 111,291,641 (GRCm39) Q3378K probably benign Het
Lin7b A G 7: 45,019,337 (GRCm39) probably null Het
Mex3c G A 18: 73,706,799 (GRCm39) V229I probably damaging Het
Micall2 C G 5: 139,703,270 (GRCm39) G189R probably damaging Het
Ncam2 A G 16: 81,309,809 (GRCm39) H433R probably benign Het
Or2t45 A T 11: 58,669,825 (GRCm39) S291C probably damaging Het
Or4c12 T C 2: 89,774,297 (GRCm39) N54S probably benign Het
Or6c5 C T 10: 129,074,908 (GRCm39) Q297* probably null Het
Pml A T 9: 58,141,854 (GRCm39) V326E probably damaging Het
Prl2c5 T A 13: 13,366,378 (GRCm39) M219K possibly damaging Het
Rfc1 A T 5: 65,470,312 (GRCm39) I65N possibly damaging Het
Rsbn1 T C 3: 103,821,816 (GRCm39) L17P probably damaging Het
Serpina3m A G 12: 104,357,963 (GRCm39) K296E possibly damaging Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Spag6l T C 16: 16,646,949 (GRCm39) Q19R probably benign Het
Tgm6 A C 2: 129,985,162 (GRCm39) D344A probably damaging Het
Zfp7 T C 15: 76,775,509 (GRCm39) I517T probably damaging Het
Zfp831 T A 2: 174,489,882 (GRCm39) Y1216* probably null Het
Other mutations in Etnppl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Etnppl APN 3 130,425,427 (GRCm39) missense possibly damaging 0.81
IGL02087:Etnppl APN 3 130,420,194 (GRCm39) missense probably benign
IGL02524:Etnppl APN 3 130,424,320 (GRCm39) unclassified probably benign
IGL03101:Etnppl APN 3 130,415,967 (GRCm39) missense probably damaging 1.00
IGL03120:Etnppl APN 3 130,414,341 (GRCm39) missense probably damaging 1.00
1mM(1):Etnppl UTSW 3 130,422,479 (GRCm39) splice site probably benign
PIT4810001:Etnppl UTSW 3 130,414,363 (GRCm39) missense probably benign 0.35
R0279:Etnppl UTSW 3 130,423,062 (GRCm39) missense probably damaging 1.00
R1075:Etnppl UTSW 3 130,423,212 (GRCm39) missense probably benign 0.01
R1117:Etnppl UTSW 3 130,428,212 (GRCm39) missense probably benign 0.00
R1502:Etnppl UTSW 3 130,422,438 (GRCm39) missense probably benign 0.01
R1581:Etnppl UTSW 3 130,422,393 (GRCm39) missense possibly damaging 0.80
R1730:Etnppl UTSW 3 130,414,398 (GRCm39) missense probably damaging 1.00
R1783:Etnppl UTSW 3 130,414,398 (GRCm39) missense probably damaging 1.00
R1816:Etnppl UTSW 3 130,428,211 (GRCm39) missense probably benign
R1855:Etnppl UTSW 3 130,414,371 (GRCm39) missense probably benign 0.40
R1885:Etnppl UTSW 3 130,423,111 (GRCm39) missense probably benign 0.04
R4067:Etnppl UTSW 3 130,425,442 (GRCm39) missense probably damaging 1.00
R5862:Etnppl UTSW 3 130,425,473 (GRCm39) missense possibly damaging 0.89
R6183:Etnppl UTSW 3 130,413,966 (GRCm39) missense probably damaging 1.00
R6374:Etnppl UTSW 3 130,414,342 (GRCm39) missense probably damaging 1.00
R7169:Etnppl UTSW 3 130,414,345 (GRCm39) missense probably damaging 1.00
R7324:Etnppl UTSW 3 130,423,224 (GRCm39) missense probably damaging 1.00
R7654:Etnppl UTSW 3 130,423,160 (GRCm39) missense probably benign 0.00
R7990:Etnppl UTSW 3 130,424,308 (GRCm39) missense possibly damaging 0.73
R8348:Etnppl UTSW 3 130,423,141 (GRCm39) missense probably benign 0.22
R8506:Etnppl UTSW 3 130,423,122 (GRCm39) missense possibly damaging 0.57
R8771:Etnppl UTSW 3 130,414,024 (GRCm39) missense probably damaging 1.00
R8823:Etnppl UTSW 3 130,420,195 (GRCm39) missense probably damaging 1.00
R9730:Etnppl UTSW 3 130,415,958 (GRCm39) missense probably damaging 0.99
R9748:Etnppl UTSW 3 130,414,002 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACTGCTGAAGGCTTAAAGTATG -3'
(R):5'- GGTTCCTGAGTCTGGGTTAACC -3'

Sequencing Primer
(F):5'- GCTGAAGGCTTAAAGTATGTTTTTG -3'
(R):5'- GGTTAACCCTGATCTTTGCTCTC -3'
Posted On 2014-10-30