Incidental Mutation 'R6183:Etnppl'
ID 487611
Institutional Source Beutler Lab
Gene Symbol Etnppl
Ensembl Gene ENSMUSG00000019232
Gene Name ethanolamine phosphate phospholyase
Synonyms Agxt2l1, 1300019H02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 130411097-130429399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130413966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 22 (C22R)
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: C22R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: C22R

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 373 2.6e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163620
AA Change: C22R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: C22R

DomainStartEndE-ValueType
Pfam:Aminotran_3 32 367 1.6e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166187
AA Change: C22R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: C22R

DomainStartEndE-ValueType
Pfam:Aminotran_3 26 433 1.3e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199940
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,968,718 (GRCm39) D352E probably benign Het
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N possibly damaging 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
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
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'- TGACCAATGACATCCACAGTG -3'
(R):5'- CTTTTAGCGCAACTCAGCAG -3'

Sequencing Primer
(F):5'- CACAGTGGATTAGGATGAAAGATTCC -3'
(R):5'- CTCAGCAGAGGAAAGGGACATTC -3'
Posted On 2017-10-10