Incidental Mutation 'IGL01804:Spns2'
ID 155610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spns2
Ensembl Gene ENSMUSG00000040447
Gene Name SPNS lysolipid transporter 2, sphingosine-1-phosphate
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01804
Quality Score
Status
Chromosome 11
Chromosomal Location 72342464-72380730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72348130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 279 (I279N)
Ref Sequence ENSEMBL: ENSMUSP00000044418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045303]
AlphaFold Q91VM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000045303
AA Change: I279N

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447
AA Change: I279N

DomainStartEndE-ValueType
low complexity region 5 53 N/A INTRINSIC
Pfam:Sugar_tr 104 308 7.6e-16 PFAM
Pfam:OATP 106 427 7.2e-13 PFAM
Pfam:MFS_1 108 476 2.7e-37 PFAM
transmembrane domain 506 528 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129274
Predicted Effect probably benign
Transcript: ENSMUST00000144940
SMART Domains Protein: ENSMUSP00000120722
Gene: ENSMUSG00000040447

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150491
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit symblepharon and impaired egress of T and B cells from the thymus and bone marrow, respectively. Mice homozygous for a different knock-out allele exhibit abnormal immune system, abnormal eye morphology and absent pinna reflex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,315,342 (GRCm39) N1860D probably benign Het
Abca2 T A 2: 25,336,637 (GRCm39) C2248S probably damaging Het
Adamts16 G A 13: 70,949,080 (GRCm39) Q194* probably null Het
Cetn3 A T 13: 81,932,779 (GRCm39) K13* probably null Het
Cldn18 T A 9: 99,580,901 (GRCm39) K116* probably null Het
Cntn5 T A 9: 9,831,542 (GRCm39) I613F probably damaging Het
Cyp46a1 A G 12: 108,321,745 (GRCm39) I324V probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dnajc2 A G 5: 21,962,361 (GRCm39) V539A probably damaging Het
Dock2 T A 11: 34,212,433 (GRCm39) Y1236F probably benign Het
Dpf1 T A 7: 29,015,926 (GRCm39) C383S probably damaging Het
Edc4 T A 8: 106,617,289 (GRCm39) I1052N possibly damaging Het
Ehmt1 A G 2: 24,681,966 (GRCm39) L1243P probably damaging Het
Exoc6b A G 6: 84,885,148 (GRCm39) S264P probably damaging Het
Gbx2 T C 1: 89,856,703 (GRCm39) E229G probably benign Het
Hip1r T A 5: 124,139,613 (GRCm39) probably null Het
Lig1 A G 7: 13,043,131 (GRCm39) K859E probably benign Het
Ly6g6f T C 17: 35,300,146 (GRCm39) D234G possibly damaging Het
Mmp11 G T 10: 75,764,304 (GRCm39) L54I probably benign Het
Naip5 A T 13: 100,358,092 (GRCm39) L1048Q probably damaging Het
Or4c122 C A 2: 89,079,566 (GRCm39) M157I probably benign Het
Or6k14 A G 1: 173,927,401 (GRCm39) I126V probably damaging Het
Or7g12 T A 9: 18,900,136 (GRCm39) M284K probably benign Het
Or8g17 T C 9: 38,930,697 (GRCm39) I47V probably benign Het
Pappa2 T C 1: 158,764,089 (GRCm39) D474G probably benign Het
Plxna1 A G 6: 89,306,628 (GRCm39) Y1401H probably damaging Het
Prrg4 T A 2: 104,663,035 (GRCm39) E190D probably damaging Het
Rnf213 T C 11: 119,333,092 (GRCm39) F2767S probably damaging Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31a A G 5: 100,523,065 (GRCm39) probably null Het
Slc12a4 A G 8: 106,671,033 (GRCm39) S1014P probably damaging Het
Spta1 A T 1: 174,071,746 (GRCm39) H2242L probably benign Het
Tcaf3 T A 6: 42,574,063 (GRCm39) I50F probably damaging Het
Tnfaip8l1 G A 17: 56,479,214 (GRCm39) S168N probably benign Het
Trak1 C T 9: 121,271,751 (GRCm39) probably benign Het
Trpv4 A T 5: 114,782,847 (GRCm39) N38K possibly damaging Het
Ube2o T C 11: 116,435,199 (GRCm39) T530A probably benign Het
Vmn2r2 A G 3: 64,041,677 (GRCm39) V346A possibly damaging Het
Vmn2r86 A C 10: 130,288,858 (GRCm39) D214E probably damaging Het
Wwc1 C A 11: 35,732,751 (GRCm39) D986Y probably damaging Het
Xdh T C 17: 74,199,754 (GRCm39) D1184G probably damaging Het
Other mutations in Spns2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Spns2 APN 11 72,347,336 (GRCm39) missense possibly damaging 0.79
elderly UTSW 11 72,347,196 (GRCm39) critical splice acceptor site probably null
homely UTSW 11 72,347,686 (GRCm39) missense probably damaging 1.00
whistler UTSW 11 72,349,513 (GRCm39) nonsense probably null
Wrinkled UTSW 11 72,347,704 (GRCm39) missense possibly damaging 0.81
R0883:Spns2 UTSW 11 72,345,223 (GRCm39) missense probably damaging 1.00
R1544:Spns2 UTSW 11 72,347,193 (GRCm39) missense probably benign 0.30
R1696:Spns2 UTSW 11 72,347,173 (GRCm39) missense probably benign 0.25
R2046:Spns2 UTSW 11 72,349,866 (GRCm39) missense possibly damaging 0.49
R2164:Spns2 UTSW 11 72,349,497 (GRCm39) missense possibly damaging 0.82
R2259:Spns2 UTSW 11 72,348,094 (GRCm39) missense probably benign 0.35
R4209:Spns2 UTSW 11 72,345,012 (GRCm39) missense probably benign 0.07
R5285:Spns2 UTSW 11 72,380,305 (GRCm39) missense possibly damaging 0.92
R6883:Spns2 UTSW 11 72,347,196 (GRCm39) critical splice acceptor site probably null
R6990:Spns2 UTSW 11 72,380,447 (GRCm39) missense probably benign 0.08
R7221:Spns2 UTSW 11 72,347,742 (GRCm39) missense probably benign 0.43
R7227:Spns2 UTSW 11 72,349,513 (GRCm39) nonsense probably null
R7243:Spns2 UTSW 11 72,347,686 (GRCm39) missense probably damaging 1.00
R7390:Spns2 UTSW 11 72,347,704 (GRCm39) missense possibly damaging 0.81
R7699:Spns2 UTSW 11 72,380,443 (GRCm39) nonsense probably null
R7700:Spns2 UTSW 11 72,380,443 (GRCm39) nonsense probably null
R8042:Spns2 UTSW 11 72,345,003 (GRCm39) missense possibly damaging 0.46
R8155:Spns2 UTSW 11 72,347,394 (GRCm39) missense possibly damaging 0.46
R8553:Spns2 UTSW 11 72,348,053 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04