Incidental Mutation 'R4229:Nxpe4'
ID 320132
Institutional Source Beutler Lab
Gene Symbol Nxpe4
Ensembl Gene ENSMUSG00000044229
Gene Name neurexophilin and PC-esterase domain family, member 4
Synonyms Fam55d, D930028F11Rik
MMRRC Submission 041048-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R4229 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 48073321-48311325 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48304122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 70 (R70G)
Ref Sequence ENSEMBL: ENSMUSP00000149644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093853] [ENSMUST00000215780] [ENSMUST00000216998]
AlphaFold Q52KP5
Predicted Effect possibly damaging
Transcript: ENSMUST00000093853
AA Change: R70G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: R70G

DomainStartEndE-ValueType
transmembrane domain 9 26 N/A INTRINSIC
Pfam:Neurexophilin 74 272 8.9e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215780
AA Change: R70G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216998
AA Change: R70G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217002
Meta Mutation Damage Score 0.2739 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aadac A G 3: 59,939,234 (GRCm39) K3E possibly damaging Het
Cdc14a A G 3: 116,087,413 (GRCm39) S533P probably damaging Het
Dsc3 G A 18: 20,098,878 (GRCm39) T767I probably damaging Het
Dse A T 10: 34,038,740 (GRCm39) M221K probably damaging Het
Etfb C A 7: 43,105,984 (GRCm39) R174S probably damaging Het
Gm10735 T C 13: 113,177,743 (GRCm39) probably benign Het
Gm27013 A T 6: 130,654,308 (GRCm39) S385T possibly damaging Het
Gsap A G 5: 21,451,975 (GRCm39) D339G probably benign Het
H2-T24 G A 17: 36,325,721 (GRCm39) A290V probably benign Het
Ifi44l A T 3: 151,468,514 (GRCm39) C5* probably null Het
Lipk A G 19: 33,997,687 (GRCm39) Y56C probably damaging Het
Mrpl21 A G 19: 3,336,901 (GRCm39) I91V probably damaging Het
Nin T C 12: 70,097,984 (GRCm39) E492G probably damaging Het
Or1e1 A T 11: 73,245,058 (GRCm39) T160S probably damaging Het
Or4k36 A G 2: 111,146,681 (GRCm39) I286V probably damaging Het
Or4p18 T A 2: 88,233,227 (GRCm39) Q17L possibly damaging Het
Or52e18 A T 7: 104,609,801 (GRCm39) I46N probably benign Het
Plaur T C 7: 24,166,208 (GRCm39) V93A probably damaging Het
Ptprv C A 1: 135,053,945 (GRCm39) noncoding transcript Het
Rabep1 A G 11: 70,799,260 (GRCm39) T295A probably benign Het
Sec24b G T 3: 129,834,368 (GRCm39) Q141K probably benign Het
Set A G 2: 29,959,531 (GRCm39) Y139C probably damaging Het
Sspo T C 6: 48,467,868 (GRCm39) S4272P probably benign Het
Tmc3 T C 7: 83,246,610 (GRCm39) probably benign Het
Tmem229a T A 6: 24,954,831 (GRCm39) I308F probably damaging Het
Vmn1r223 A T 13: 23,433,585 (GRCm39) M60L probably benign Het
Zfp148 A G 16: 33,255,133 (GRCm39) E41G probably benign Het
Zfp677 T C 17: 21,618,544 (GRCm39) S534P probably damaging Het
Other mutations in Nxpe4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Nxpe4 APN 9 48,305,440 (GRCm39) missense possibly damaging 0.63
IGL01723:Nxpe4 APN 9 48,309,898 (GRCm39) missense probably benign 0.00
IGL03008:Nxpe4 APN 9 48,304,738 (GRCm39) missense probably benign 0.01
IGL03022:Nxpe4 APN 9 48,304,548 (GRCm39) missense probably damaging 0.99
IGL03271:Nxpe4 APN 9 48,304,345 (GRCm39) missense probably damaging 0.99
R0633:Nxpe4 UTSW 9 48,307,897 (GRCm39) missense probably benign
R1033:Nxpe4 UTSW 9 48,304,533 (GRCm39) missense probably damaging 1.00
R1186:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R1296:Nxpe4 UTSW 9 48,307,793 (GRCm39) missense probably benign 0.00
R1596:Nxpe4 UTSW 9 48,307,855 (GRCm39) missense probably damaging 0.97
R1813:Nxpe4 UTSW 9 48,304,678 (GRCm39) missense possibly damaging 0.87
R2511:Nxpe4 UTSW 9 48,304,533 (GRCm39) missense probably damaging 1.00
R2902:Nxpe4 UTSW 9 48,305,446 (GRCm39) missense probably benign 0.00
R4230:Nxpe4 UTSW 9 48,304,122 (GRCm39) missense possibly damaging 0.80
R4231:Nxpe4 UTSW 9 48,310,137 (GRCm39) missense probably damaging 1.00
R4233:Nxpe4 UTSW 9 48,310,137 (GRCm39) missense probably damaging 1.00
R4236:Nxpe4 UTSW 9 48,310,137 (GRCm39) missense probably damaging 1.00
R4296:Nxpe4 UTSW 9 48,310,284 (GRCm39) missense probably damaging 0.98
R5016:Nxpe4 UTSW 9 48,304,185 (GRCm39) missense probably benign 0.12
R5644:Nxpe4 UTSW 9 48,304,050 (GRCm39) missense probably benign 0.01
R5797:Nxpe4 UTSW 9 48,307,838 (GRCm39) missense possibly damaging 0.86
R5979:Nxpe4 UTSW 9 48,307,862 (GRCm39) missense probably benign 0.02
R6170:Nxpe4 UTSW 9 48,304,104 (GRCm39) missense probably benign 0.12
R6208:Nxpe4 UTSW 9 48,304,678 (GRCm39) missense probably benign 0.12
R6431:Nxpe4 UTSW 9 48,304,145 (GRCm39) missense probably damaging 0.99
R7475:Nxpe4 UTSW 9 48,304,640 (GRCm39) nonsense probably null
R8093:Nxpe4 UTSW 9 48,307,852 (GRCm39) missense probably benign 0.03
R8103:Nxpe4 UTSW 9 48,304,020 (GRCm39) missense probably benign
R8185:Nxpe4 UTSW 9 48,304,509 (GRCm39) missense possibly damaging 0.89
R8768:Nxpe4 UTSW 9 48,304,050 (GRCm39) missense probably benign 0.01
R8774:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R8774-TAIL:Nxpe4 UTSW 9 48,304,692 (GRCm39) missense probably benign 0.23
R8903:Nxpe4 UTSW 9 48,310,250 (GRCm39) missense probably damaging 0.99
R9064:Nxpe4 UTSW 9 48,309,964 (GRCm39) missense probably benign 0.43
R9327:Nxpe4 UTSW 9 48,309,984 (GRCm39) missense probably benign 0.05
R9682:Nxpe4 UTSW 9 48,304,248 (GRCm39) missense probably benign 0.16
X0062:Nxpe4 UTSW 9 48,310,325 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTAAACAAAGCTGCCTGTGTG -3'
(R):5'- TGGTCTCTAGCCTCTACCAG -3'

Sequencing Primer
(F):5'- GCCTGTGTGTGAAATTTTATGACCAC -3'
(R):5'- TCTACCAGGATGTCCAGCTG -3'
Posted On 2015-06-12