Incidental Mutation 'IGL02949:Srr'
ID364882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srr
Ensembl Gene ENSMUSG00000001323
Gene Nameserine racemase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.359) question?
Stock #IGL02949
Quality Score
Status
Chromosome11
Chromosomal Location74906359-74925948 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 74908737 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 304 (E304A)
Ref Sequence ENSEMBL: ENSMUSP00000113372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000123855] [ENSMUST00000128230] [ENSMUST00000128556] [ENSMUST00000138612] [ENSMUST00000153316] [ENSMUST00000155702]
Predicted Effect probably benign
Transcript: ENSMUST00000045807
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
AARP2CN 228 309 1.14e-28 SMART
low complexity region 373 383 N/A INTRINSIC
low complexity region 407 421 N/A INTRINSIC
low complexity region 429 452 N/A INTRINSIC
coiled coil region 453 478 N/A INTRINSIC
DUF663 486 772 2.6e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065211
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: E304A

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104449
Predicted Effect probably benign
Transcript: ENSMUST00000108447
AA Change: E279A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: E279A

DomainStartEndE-ValueType
Pfam:PALP 19 179 1.8e-41 PFAM
Pfam:PALP 173 289 4.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108448
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: E304A

DomainStartEndE-ValueType
Pfam:PALP 19 314 2.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121738
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: E304A

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123855
SMART Domains Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 166 1.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127499
Predicted Effect probably benign
Transcript: ENSMUST00000128230
SMART Domains Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128556
SMART Domains Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 182 2.6e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135587
Predicted Effect probably benign
Transcript: ENSMUST00000138612
SMART Domains Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 112 4.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147817
Predicted Effect probably benign
Transcript: ENSMUST00000153316
Predicted Effect probably benign
Transcript: ENSMUST00000155702
SMART Domains Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased D-serine levels in the cerebral cortex and hippocampus, and neuronal damage associated with NMDA excitotoxicity and beta-amyloid peptide 1-42 exposure is decreased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Srr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03268:Srr APN 11 74913117 missense probably benign 0.06
PIT4382001:Srr UTSW 11 74910308 missense probably benign 0.42
R0718:Srr UTSW 11 74911065 missense possibly damaging 0.74
R1588:Srr UTSW 11 74908803 missense possibly damaging 0.93
R1960:Srr UTSW 11 74908716 missense probably damaging 1.00
R1986:Srr UTSW 11 74908719 missense probably damaging 1.00
R4043:Srr UTSW 11 74909121 missense probably benign 0.08
R4112:Srr UTSW 11 74913072 missense probably benign
R4877:Srr UTSW 11 74907780 unclassified probably benign
R5856:Srr UTSW 11 74913012 missense possibly damaging 0.92
R5959:Srr UTSW 11 74911065 missense possibly damaging 0.74
R6362:Srr UTSW 11 74910202 missense probably damaging 1.00
R7163:Srr UTSW 11 74913002 missense probably damaging 0.96
Posted On2015-12-18