Incidental Mutation 'R9659:Nxph1'
ID 727443
Institutional Source Beutler Lab
Gene Symbol Nxph1
Ensembl Gene ENSMUSG00000046178
Gene Name neurexophilin 1
Synonyms C130005L03Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.640) question?
Stock # R9659 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 8948431-9249032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9247418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 130 (T130A)
Ref Sequence ENSEMBL: ENSMUSP00000060926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060369] [ENSMUST00000160300]
AlphaFold Q61200
Predicted Effect probably damaging
Transcript: ENSMUST00000060369
AA Change: T130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060926
Gene: ENSMUSG00000046178
AA Change: T130A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 27 43 N/A INTRINSIC
Pfam:Neurexophilin 63 271 1.2e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160300
AA Change: T130A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125274
Gene: ENSMUSG00000046178
AA Change: T130A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 27 43 N/A INTRINSIC
Pfam:Neurexophilin 61 271 2.5e-115 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show no obvious morbidity, premature mortality, or anatomical defects. However, males exhibit sterility and testis abnormalities probably because homologous recombination results in co-insertion of the 5' part of the HSV-TK cassette into the targeted locus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik T C 5: 130,407,876 (GRCm39) I112V unknown Het
Adcy7 A G 8: 89,045,733 (GRCm39) T572A probably benign Het
Atad5 G T 11: 79,980,542 (GRCm39) probably benign Het
C2cd2 A G 16: 97,723,473 (GRCm39) S15P possibly damaging Het
Cabp1 T C 5: 115,311,187 (GRCm39) D289G possibly damaging Het
Ccdc14 A G 16: 34,541,913 (GRCm39) I545V probably damaging Het
Cep295 C A 9: 15,233,846 (GRCm39) A2317S probably benign Het
Cerkl T C 2: 79,223,322 (GRCm39) D133G possibly damaging Het
Cited4 T G 4: 120,524,543 (GRCm39) C182G probably damaging Het
Col6a5 T A 9: 105,811,034 (GRCm39) K828N unknown Het
Ear2 A G 14: 44,340,705 (GRCm39) Y121C probably damaging Het
Ect2l C T 10: 18,041,347 (GRCm39) C369Y possibly damaging Het
Elapor1 G A 3: 108,377,297 (GRCm39) T387I possibly damaging Het
Ep300 A G 15: 81,505,273 (GRCm39) Y631C unknown Het
Ephb4 T G 5: 137,363,743 (GRCm39) Y583D probably damaging Het
Fbn2 C G 18: 58,342,654 (GRCm39) R75P probably damaging Het
Gabra2 T C 5: 71,192,140 (GRCm39) D63G probably benign Het
Gfra1 A G 19: 58,441,652 (GRCm39) M93T probably damaging Het
Gm21886 AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG AGAGGCCTG 18: 80,132,776 (GRCm39) probably benign Het
Gm3604 A T 13: 62,519,724 (GRCm39) H10Q possibly damaging Het
Helz2 T C 2: 180,882,025 (GRCm39) D256G probably benign Het
Herc1 A C 9: 66,307,185 (GRCm39) I1002L probably benign Het
Hpgd C G 8: 56,772,075 (GRCm39) C182W probably damaging Het
Htr5b A G 1: 121,455,428 (GRCm39) L164P possibly damaging Het
Kmo T C 1: 175,486,085 (GRCm39) F403L probably damaging Het
Ly75 C A 2: 60,168,665 (GRCm39) D748Y probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mipep A G 14: 61,083,893 (GRCm39) T595A probably damaging Het
Muc6 T C 7: 141,232,100 (GRCm39) D968G probably damaging Het
Myo18b T C 5: 113,022,382 (GRCm39) T337A unknown Het
Nlrp1b T A 11: 71,073,132 (GRCm39) Q237L possibly damaging Het
Nr1h4 A G 10: 89,314,638 (GRCm39) probably null Het
Or10al6 T G 17: 38,082,880 (GRCm39) F112C probably damaging Het
Or1l4 T A 2: 37,091,897 (GRCm39) C215S possibly damaging Het
Or4m1 A G 14: 50,558,181 (GRCm39) F37S probably benign Het
Or5p4 T C 7: 107,680,745 (GRCm39) V248A probably damaging Het
Or8g21 A G 9: 38,906,296 (GRCm39) V145A possibly damaging Het
Pcsk5 A G 19: 17,455,245 (GRCm39) Y1062H probably benign Het
Plch1 T C 3: 63,681,136 (GRCm39) I164V probably benign Het
Plekhh2 T A 17: 84,854,892 (GRCm39) M42K possibly damaging Het
Polr2a T C 11: 69,625,654 (GRCm39) Y1832C unknown Het
Prpf4 G A 4: 62,334,296 (GRCm39) probably null Het
Psg16 T C 7: 16,824,524 (GRCm39) S12P possibly damaging Het
Ptpn14 T A 1: 189,587,174 (GRCm39) M528K probably benign Het
Rb1cc1 T A 1: 6,318,673 (GRCm39) H697Q probably benign Het
Reg3a T G 6: 78,360,574 (GRCm39) C171G possibly damaging Het
Slc22a26 G A 19: 7,763,798 (GRCm39) P412S probably benign Het
Spata31e5 G T 1: 28,816,536 (GRCm39) H499N probably benign Het
Tcstv2a T A 13: 120,725,754 (GRCm39) D139E probably damaging Het
Tlk2 T C 11: 105,131,263 (GRCm39) I203T probably benign Het
Tmem120b T G 5: 123,253,788 (GRCm39) H279Q probably damaging Het
Trip4 T C 9: 65,740,702 (GRCm39) E535G probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ubr5 A T 15: 37,984,254 (GRCm39) L2298I Het
Utp20 A G 10: 88,653,171 (GRCm39) L303P probably damaging Het
Vcan A G 13: 89,839,860 (GRCm39) Y1895H probably damaging Het
Vmn2r2 T C 3: 64,041,942 (GRCm39) N258D possibly damaging Het
Wdr20rt A T 12: 65,273,343 (GRCm39) S269C probably damaging Het
Zfand4 T G 6: 116,282,588 (GRCm39) Y54D probably damaging Het
Zfp82 C T 7: 29,755,963 (GRCm39) R373H probably damaging Het
Zmiz2 A G 11: 6,346,814 (GRCm39) E141G probably benign Het
Other mutations in Nxph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02017:Nxph1 APN 6 9,247,743 (GRCm39) missense probably damaging 1.00
IGL02256:Nxph1 APN 6 9,247,185 (GRCm39) missense probably benign 0.13
IGL03229:Nxph1 APN 6 9,247,830 (GRCm39) missense probably damaging 1.00
R0305:Nxph1 UTSW 6 9,247,754 (GRCm39) missense probably damaging 1.00
R1722:Nxph1 UTSW 6 9,247,516 (GRCm39) missense probably damaging 1.00
R1899:Nxph1 UTSW 6 9,247,622 (GRCm39) missense probably damaging 1.00
R2122:Nxph1 UTSW 6 9,247,791 (GRCm39) missense probably damaging 1.00
R2274:Nxph1 UTSW 6 9,247,746 (GRCm39) missense probably damaging 1.00
R5219:Nxph1 UTSW 6 9,247,765 (GRCm39) nonsense probably null
R5715:Nxph1 UTSW 6 9,247,740 (GRCm39) missense probably damaging 1.00
R6048:Nxph1 UTSW 6 9,247,103 (GRCm39) missense probably benign
R7177:Nxph1 UTSW 6 9,247,497 (GRCm39) missense probably damaging 1.00
R8900:Nxph1 UTSW 6 9,247,601 (GRCm39) missense probably damaging 0.98
R8987:Nxph1 UTSW 6 8,950,312 (GRCm39) splice site probably benign
R9618:Nxph1 UTSW 6 9,247,108 (GRCm39) missense probably benign 0.00
R9788:Nxph1 UTSW 6 9,247,418 (GRCm39) missense probably damaging 1.00
X0017:Nxph1 UTSW 6 9,247,208 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACACAGATTTGGACCTGCGC -3'
(R):5'- GTCAACCTTCTCATACTCAATGCG -3'

Sequencing Primer
(F):5'- CAGATTTGGACCTGCGCTATGAC -3'
(R):5'- CTCATACTCAATGCGACAGTTGAAGG -3'
Posted On 2022-10-06