Incidental Mutation 'R4043:Srr'
ID 313945
Institutional Source Beutler Lab
Gene Symbol Srr
Ensembl Gene ENSMUSG00000001323
Gene Name serine racemase
Synonyms Rgsc34, M100034
MMRRC Submission 041615-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.263) question?
Stock # R4043 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74797185-74816774 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74799947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 202 (T202A)
Ref Sequence ENSEMBL: ENSMUSP00000104086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000138612] [ENSMUST00000153316] [ENSMUST00000155702] [ENSMUST00000123855] [ENSMUST00000128556] [ENSMUST00000128230]
AlphaFold Q9QZX7
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: T227A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: T227A

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: T202A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: T202A

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: T227A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: T227A

DomainStartEndE-ValueType
Pfam:PALP 19 314 2.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121738
AA Change: T227A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: T227A

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147817
Predicted Effect probably benign
Transcript: ENSMUST00000138612
SMART Domains Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 112 4.1e-28 PFAM
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
Predicted Effect probably benign
Transcript: ENSMUST00000123855
SMART Domains Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 166 1.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128556
SMART Domains Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 182 2.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128230
SMART Domains Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,409,360 (GRCm39) N44D probably benign Het
AU018091 A G 7: 3,208,962 (GRCm39) F375L probably damaging Het
Bsph1 G T 7: 13,192,201 (GRCm39) probably null Het
Casp1 A G 9: 5,302,444 (GRCm39) D122G probably benign Het
Ccdc146 C T 5: 21,521,941 (GRCm39) C361Y probably benign Het
Cdc37l1 T C 19: 28,968,028 (GRCm39) S31P possibly damaging Het
Cdca2 A T 14: 67,941,455 (GRCm39) M249K probably benign Het
Cfap73 C T 5: 120,768,030 (GRCm39) probably null Het
Cgnl1 A G 9: 71,612,575 (GRCm39) L749S probably damaging Het
Cmtr2 C A 8: 110,948,462 (GRCm39) C257* probably null Het
Col6a4 A T 9: 105,949,610 (GRCm39) L675* probably null Het
Cpne8 A T 15: 90,456,204 (GRCm39) D186E probably damaging Het
Csmd3 A G 15: 47,619,362 (GRCm39) probably null Het
Daglb T A 5: 143,472,906 (GRCm39) Y354N possibly damaging Het
Dlgap1 T C 17: 71,068,075 (GRCm39) S549P probably damaging Het
Dnah11 T C 12: 117,843,678 (GRCm39) D4389G probably damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
Gimap1 T A 6: 48,720,176 (GRCm39) W263R probably damaging Het
Gne A C 4: 44,040,383 (GRCm39) C594G possibly damaging Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Hdac6 T C X: 7,797,731 (GRCm39) T993A probably benign Het
Helz2 T C 2: 180,871,503 (GRCm39) D2703G probably benign Het
Jmjd1c G A 10: 67,055,245 (GRCm39) V222I possibly damaging Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Lrrc37a T G 11: 103,389,479 (GRCm39) H1982P possibly damaging Het
Med13l T A 5: 118,731,528 (GRCm39) L68Q probably damaging Het
Megf10 C A 18: 57,392,870 (GRCm39) D422E probably damaging Het
Mpz C T 1: 170,987,340 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,215 (GRCm39) T1508S possibly damaging Het
Myo3a C T 2: 22,338,350 (GRCm39) probably benign Het
Ndnf A T 6: 65,680,920 (GRCm39) N400Y possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or7g35 G T 9: 19,496,291 (GRCm39) V153F probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pappa A G 4: 65,232,824 (GRCm39) N1321S probably benign Het
Patl1 T A 19: 11,920,314 (GRCm39) L756Q probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Plekhg2 G A 7: 28,064,144 (GRCm39) probably benign Het
Ppp2r2d G A 7: 138,484,145 (GRCm39) W265* probably null Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radil T A 5: 142,479,988 (GRCm39) I471F probably benign Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Rpl10l A T 12: 66,330,977 (GRCm39) M52K probably damaging Het
Scn1a A T 2: 66,156,380 (GRCm39) S510T possibly damaging Het
Sdad1 T G 5: 92,450,553 (GRCm39) N194T probably damaging Het
Sel1l3 A T 5: 53,345,396 (GRCm39) Y259* probably null Het
Slc22a26 T C 19: 7,765,694 (GRCm39) probably null Het
Snap91 C T 9: 86,659,102 (GRCm39) G477D probably damaging Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Srrm1 C T 4: 135,068,242 (GRCm39) probably benign Het
Trp53bp2 T A 1: 182,276,626 (GRCm39) L869Q possibly damaging Het
Ttbk1 T A 17: 46,757,688 (GRCm39) D982V probably benign Het
Ttn T C 2: 76,624,501 (GRCm39) T15324A probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vps8 A C 16: 21,345,146 (GRCm39) D823A probably damaging Het
Zfp616 T A 11: 73,976,108 (GRCm39) N792K possibly damaging Het
Zfpm2 A T 15: 40,734,023 (GRCm39) D2V possibly damaging Het
Zfyve16 A C 13: 92,650,271 (GRCm39) probably null Het
Zmym2 T A 14: 57,195,765 (GRCm39) probably benign Het
Other mutations in Srr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02949:Srr APN 11 74,799,563 (GRCm39) missense probably benign 0.00
IGL03268:Srr APN 11 74,803,943 (GRCm39) missense probably benign 0.06
PIT4382001:Srr UTSW 11 74,801,134 (GRCm39) missense probably benign 0.42
R0718:Srr UTSW 11 74,801,891 (GRCm39) missense possibly damaging 0.74
R1588:Srr UTSW 11 74,799,629 (GRCm39) missense possibly damaging 0.93
R1960:Srr UTSW 11 74,799,542 (GRCm39) missense probably damaging 1.00
R1986:Srr UTSW 11 74,799,545 (GRCm39) missense probably damaging 1.00
R4112:Srr UTSW 11 74,803,898 (GRCm39) missense probably benign
R4877:Srr UTSW 11 74,798,606 (GRCm39) unclassified probably benign
R5856:Srr UTSW 11 74,803,838 (GRCm39) missense possibly damaging 0.92
R5959:Srr UTSW 11 74,801,891 (GRCm39) missense possibly damaging 0.74
R6362:Srr UTSW 11 74,801,028 (GRCm39) missense probably damaging 1.00
R7163:Srr UTSW 11 74,803,828 (GRCm39) missense probably damaging 0.96
R7706:Srr UTSW 11 74,803,961 (GRCm39) critical splice acceptor site probably null
R7817:Srr UTSW 11 74,799,524 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCCGGAGTCTAGTAGGTTACATTC -3'
(R):5'- TCTGATCACCAAGGGTAACAC -3'

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