Incidental Mutation 'R4035:Snx27'
ID 313656
Institutional Source Beutler Lab
Gene Symbol Snx27
Ensembl Gene ENSMUSG00000028136
Gene Name sorting nexin family member 27
Synonyms ESTM47, 5730552M22Rik
MMRRC Submission 041613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4035 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94404851-94490023 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94431551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 281 (D281G)
Ref Sequence ENSEMBL: ENSMUSP00000102904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000198426] [ENSMUST00000199462] [ENSMUST00000200642]
AlphaFold Q3UHD6
Predicted Effect probably damaging
Transcript: ENSMUST00000029783
AA Change: D281G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: D281G

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDZ 49 134 3.77e-19 SMART
PX 154 263 7.5e-21 SMART
Pfam:RA 271 360 1.2e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107283
AA Change: D281G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: D281G

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDZ 49 134 3.77e-19 SMART
PX 154 263 7.5e-21 SMART
Pfam:RA 271 360 1.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196675
Predicted Effect probably benign
Transcript: ENSMUST00000198426
SMART Domains Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
PX 1 93 5.11e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199462
SMART Domains Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136

DomainStartEndE-ValueType
low complexity region 18 38 N/A INTRINSIC
PDB:3QE1|A 39 58 9e-7 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000200642
AA Change: D190G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: D190G

DomainStartEndE-ValueType
PDB:3QGL|E 12 42 3e-12 PDB
PX 63 172 7.5e-21 SMART
Pfam:RA 180 269 5.3e-14 PFAM
Meta Mutation Damage Score 0.4911 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,879 (GRCm39) F34L probably benign Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ano5 A G 7: 51,216,233 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Bhlhe41 A G 6: 145,808,754 (GRCm39) S353P probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cep350 T C 1: 155,835,541 (GRCm39) T52A probably benign Het
Coro2b A G 9: 62,333,071 (GRCm39) probably benign Het
Ctcf A T 8: 106,390,789 (GRCm39) E132V possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Cxcl2 A T 5: 91,052,272 (GRCm39) Q87L possibly damaging Het
Dop1a T C 9: 86,376,486 (GRCm39) V240A probably damaging Het
Etfdh C T 3: 79,521,018 (GRCm39) V294I probably benign Het
Fnip2 C T 3: 79,386,808 (GRCm39) V973I probably benign Het
Fyco1 T C 9: 123,630,348 (GRCm39) T1286A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gsdme A T 6: 50,206,428 (GRCm39) N138K possibly damaging Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Henmt1 T C 3: 108,866,001 (GRCm39) V199A probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Krba1 A G 6: 48,388,614 (GRCm39) N538D probably damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ndst4 C T 3: 125,232,385 (GRCm39) T318M probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 GCA GCACCA 19: 46,069,797 (GRCm39) probably benign Het
Or6d12 A G 6: 116,493,590 (GRCm39) N284S possibly damaging Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Ppfibp1 A G 6: 146,898,334 (GRCm39) K97E probably damaging Het
Pramel26 T A 4: 143,537,026 (GRCm39) D435V probably benign Het
Prpsap1 A T 11: 116,363,834 (GRCm39) M263K probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rttn T C 18: 89,013,777 (GRCm39) V482A probably benign Het
Samsn1 A G 16: 75,706,073 (GRCm39) M1T probably null Het
Scel A G 14: 103,767,440 (GRCm39) N33S probably damaging Het
Sema4g A T 19: 44,989,853 (GRCm39) Y644F probably damaging Het
Slc39a10 G A 1: 46,851,234 (GRCm39) T752M probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,199 (GRCm39) probably null Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ttn T G 2: 76,740,165 (GRCm39) Q3458P probably benign Het
Ube2z A G 11: 95,951,893 (GRCm39) F152L probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp267 T G 3: 36,218,989 (GRCm39) H337Q possibly damaging Het
Other mutations in Snx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Snx27 APN 3 94,469,279 (GRCm39) missense probably damaging 1.00
IGL01061:Snx27 APN 3 94,436,287 (GRCm39) splice site probably benign
IGL01598:Snx27 APN 3 94,469,150 (GRCm39) missense probably damaging 1.00
IGL02276:Snx27 APN 3 94,438,686 (GRCm39) missense probably damaging 1.00
IGL02558:Snx27 APN 3 94,410,188 (GRCm39) missense probably damaging 0.99
IGL02748:Snx27 APN 3 94,410,872 (GRCm39) missense probably benign 0.04
IGL02817:Snx27 APN 3 94,410,770 (GRCm39) missense probably damaging 1.00
IGL02965:Snx27 APN 3 94,489,733 (GRCm39) missense probably damaging 0.99
R0733:Snx27 UTSW 3 94,469,320 (GRCm39) missense probably benign 0.03
R1241:Snx27 UTSW 3 94,427,540 (GRCm39) missense probably benign 0.18
R1882:Snx27 UTSW 3 94,426,416 (GRCm39) missense probably damaging 0.97
R2517:Snx27 UTSW 3 94,438,541 (GRCm39) missense probably damaging 1.00
R3850:Snx27 UTSW 3 94,427,542 (GRCm39) missense probably benign 0.00
R3964:Snx27 UTSW 3 94,438,613 (GRCm39) missense probably damaging 1.00
R4172:Snx27 UTSW 3 94,410,794 (GRCm39) missense probably benign 0.00
R4424:Snx27 UTSW 3 94,469,330 (GRCm39) missense probably benign 0.03
R4425:Snx27 UTSW 3 94,469,330 (GRCm39) missense probably benign 0.03
R4548:Snx27 UTSW 3 94,433,746 (GRCm39) intron probably benign
R4820:Snx27 UTSW 3 94,427,518 (GRCm39) missense probably damaging 1.00
R5114:Snx27 UTSW 3 94,431,551 (GRCm39) missense probably damaging 1.00
R5672:Snx27 UTSW 3 94,410,157 (GRCm39) splice site probably null
R5877:Snx27 UTSW 3 94,410,270 (GRCm39) missense probably damaging 1.00
R7138:Snx27 UTSW 3 94,436,247 (GRCm39) missense probably benign 0.04
R7284:Snx27 UTSW 3 94,431,498 (GRCm39) missense probably damaging 0.97
R7403:Snx27 UTSW 3 94,436,233 (GRCm39) missense probably damaging 1.00
R7593:Snx27 UTSW 3 94,410,272 (GRCm39) missense possibly damaging 0.83
R7827:Snx27 UTSW 3 94,426,366 (GRCm39) missense probably benign 0.11
R9320:Snx27 UTSW 3 94,431,593 (GRCm39) missense probably damaging 0.96
R9326:Snx27 UTSW 3 94,409,369 (GRCm39) missense probably damaging 0.99
R9467:Snx27 UTSW 3 94,489,723 (GRCm39) missense possibly damaging 0.46
X0057:Snx27 UTSW 3 94,431,581 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- GCACTCTGGGGTATTTACTGC -3'
(R):5'- CCTAAAGCCAGCTTTATGAGTTG -3'

Sequencing Primer
(F):5'- TCCTAGGCACTGAGATTACAAGC -3'
(R):5'- CTAGCATGTAGCAAGGAGAA -3'
Posted On 2015-04-30