Incidental Mutation 'R1855:Etnppl'
ID 206011
Institutional Source Beutler Lab
Gene Symbol Etnppl
Ensembl Gene ENSMUSG00000019232
Gene Name ethanolamine phosphate phospholyase
Synonyms Agxt2l1, 1300019H02Rik
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 130411097-130429399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130414371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 89 (I89F)
Ref Sequence ENSEMBL: ENSMUSP00000131294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072271] [ENSMUST00000163620] [ENSMUST00000166187]
AlphaFold Q8BWU8
Predicted Effect probably benign
Transcript: ENSMUST00000072271
AA Change: I89F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: I89F

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 373 2.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163620
AA Change: I83F

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: I83F

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 367 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166187
AA Change: I89F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: I89F

DomainStartEndE-ValueType
Pfam:Aminotran_3 26 433 1.3e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199940
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
Allele List at MGI

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

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign 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
R1885:Etnppl UTSW 3 130,423,111 (GRCm39) missense probably benign 0.04
R2330:Etnppl UTSW 3 130,424,224 (GRCm39) missense probably damaging 1.00
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'- TGCTGAGTTGCGCTAAAAGGG -3'
(R):5'- ACTCAGTGAGTGGCAAGAATC -3'

Sequencing Primer
(F):5'- TTGCGCTAAAAGGGGAAAGCTTC -3'
(R):5'- GAGTGGCAAGAATCTCCTTACGTC -3'
Posted On 2014-06-23