Incidental Mutation 'R1837:Clstn2'
ID 205407
Institutional Source Beutler Lab
Gene Symbol Clstn2
Ensembl Gene ENSMUSG00000032452
Gene Name calsyntenin 2
Synonyms 2900042C18Rik, Cst-2, CS2, CSTN2
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 97326448-97915234 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97465593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 133 (A133S)
Ref Sequence ENSEMBL: ENSMUSP00000124081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035027] [ENSMUST00000162295]
AlphaFold Q9ER65
Predicted Effect probably benign
Transcript: ENSMUST00000035027
AA Change: A133S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035027
Gene: ENSMUSG00000032452
AA Change: A133S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 67 160 2e-10 SMART
CA 183 261 1.18e-3 SMART
SCOP:d1a8d_1 358 538 5e-21 SMART
Blast:LamG 380 529 3e-41 BLAST
transmembrane domain 835 857 N/A INTRINSIC
low complexity region 901 935 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162295
AA Change: A133S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124081
Gene: ENSMUSG00000032452
AA Change: A133S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CA 67 160 2e-10 SMART
CA 183 261 1.18e-3 SMART
Pfam:Laminin_G_3 356 533 1.4e-9 PFAM
transmembrane domain 835 857 N/A INTRINSIC
low complexity region 901 935 N/A INTRINSIC
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
MGI Phenotype PHENOTYPE: Homozygous KO mice display deficiency in spatial learning and memory in Morris water and Barnes maze tasks and increased locomotor activity in open field test. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly damaging Het
Other mutations in Clstn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Clstn2 APN 9 97,464,505 (GRCm39) splice site probably benign
IGL00563:Clstn2 APN 9 97,464,505 (GRCm39) splice site probably benign
IGL00733:Clstn2 APN 9 97,365,102 (GRCm39) missense probably damaging 1.00
IGL01303:Clstn2 APN 9 97,365,128 (GRCm39) nonsense probably null
IGL01935:Clstn2 APN 9 97,345,521 (GRCm39) missense probably damaging 1.00
IGL02157:Clstn2 APN 9 97,423,928 (GRCm39) missense probably benign
IGL02974:Clstn2 APN 9 97,414,760 (GRCm39) missense probably damaging 1.00
IGL03164:Clstn2 APN 9 97,681,462 (GRCm39) missense possibly damaging 0.50
IGL03298:Clstn2 APN 9 97,338,625 (GRCm39) missense probably damaging 1.00
R0653:Clstn2 UTSW 9 97,340,257 (GRCm39) missense probably damaging 1.00
R0845:Clstn2 UTSW 9 97,452,681 (GRCm39) missense probably benign 0.39
R0992:Clstn2 UTSW 9 97,327,765 (GRCm39) missense probably benign 0.00
R1105:Clstn2 UTSW 9 97,465,552 (GRCm39) splice site probably null
R1112:Clstn2 UTSW 9 97,340,281 (GRCm39) missense possibly damaging 0.92
R1264:Clstn2 UTSW 9 97,339,662 (GRCm39) missense probably benign 0.28
R1275:Clstn2 UTSW 9 97,339,483 (GRCm39) missense probably benign 0.00
R1329:Clstn2 UTSW 9 97,340,227 (GRCm39) missense probably damaging 1.00
R1396:Clstn2 UTSW 9 97,343,446 (GRCm39) missense probably benign 0.02
R1556:Clstn2 UTSW 9 97,338,558 (GRCm39) missense probably benign 0.41
R1703:Clstn2 UTSW 9 97,340,290 (GRCm39) missense possibly damaging 0.90
R2911:Clstn2 UTSW 9 97,414,775 (GRCm39) missense probably damaging 1.00
R3434:Clstn2 UTSW 9 97,336,768 (GRCm39) missense probably benign 0.17
R3771:Clstn2 UTSW 9 97,464,615 (GRCm39) missense probably damaging 1.00
R3772:Clstn2 UTSW 9 97,464,615 (GRCm39) missense probably damaging 1.00
R3854:Clstn2 UTSW 9 97,345,648 (GRCm39) nonsense probably null
R4049:Clstn2 UTSW 9 97,339,613 (GRCm39) missense possibly damaging 0.59
R4334:Clstn2 UTSW 9 97,345,581 (GRCm39) missense probably damaging 1.00
R4705:Clstn2 UTSW 9 97,345,612 (GRCm39) missense possibly damaging 0.95
R4755:Clstn2 UTSW 9 97,327,726 (GRCm39) missense probably benign 0.01
R4884:Clstn2 UTSW 9 97,681,448 (GRCm39) missense probably damaging 1.00
R5017:Clstn2 UTSW 9 97,365,139 (GRCm39) missense probably damaging 1.00
R5076:Clstn2 UTSW 9 97,365,132 (GRCm39) missense probably damaging 1.00
R5122:Clstn2 UTSW 9 97,343,474 (GRCm39) missense probably damaging 1.00
R5155:Clstn2 UTSW 9 97,338,484 (GRCm39) missense probably benign 0.02
R5560:Clstn2 UTSW 9 97,351,872 (GRCm39) missense possibly damaging 0.95
R6009:Clstn2 UTSW 9 97,338,579 (GRCm39) missense probably benign 0.05
R6011:Clstn2 UTSW 9 97,338,579 (GRCm39) missense probably benign 0.05
R6029:Clstn2 UTSW 9 97,338,634 (GRCm39) missense probably benign 0.00
R6093:Clstn2 UTSW 9 97,340,263 (GRCm39) missense probably damaging 1.00
R6284:Clstn2 UTSW 9 97,336,727 (GRCm39) missense probably benign
R6676:Clstn2 UTSW 9 97,343,584 (GRCm39) missense probably damaging 1.00
R6902:Clstn2 UTSW 9 97,351,875 (GRCm39) missense probably damaging 1.00
R6946:Clstn2 UTSW 9 97,351,875 (GRCm39) missense probably damaging 1.00
R6966:Clstn2 UTSW 9 97,408,459 (GRCm39) nonsense probably null
R7329:Clstn2 UTSW 9 97,343,422 (GRCm39) missense probably benign 0.00
R7330:Clstn2 UTSW 9 97,343,422 (GRCm39) missense probably benign 0.00
R7382:Clstn2 UTSW 9 97,681,451 (GRCm39) nonsense probably null
R7410:Clstn2 UTSW 9 97,423,920 (GRCm39) missense probably benign 0.06
R7549:Clstn2 UTSW 9 97,464,597 (GRCm39) missense probably benign 0.01
R7879:Clstn2 UTSW 9 97,351,817 (GRCm39) missense possibly damaging 0.90
R8070:Clstn2 UTSW 9 97,681,523 (GRCm39) missense possibly damaging 0.79
R8193:Clstn2 UTSW 9 97,465,683 (GRCm39) missense probably damaging 1.00
R8422:Clstn2 UTSW 9 97,340,239 (GRCm39) missense probably benign 0.39
R9190:Clstn2 UTSW 9 97,414,815 (GRCm39) missense probably damaging 1.00
R9221:Clstn2 UTSW 9 97,343,395 (GRCm39) missense probably benign 0.00
R9305:Clstn2 UTSW 9 97,343,537 (GRCm39) missense probably damaging 1.00
R9347:Clstn2 UTSW 9 97,464,654 (GRCm39) missense probably damaging 1.00
R9520:Clstn2 UTSW 9 97,414,763 (GRCm39) missense probably damaging 1.00
R9751:Clstn2 UTSW 9 97,339,703 (GRCm39) missense probably damaging 0.98
X0027:Clstn2 UTSW 9 97,408,452 (GRCm39) missense probably damaging 1.00
Z1177:Clstn2 UTSW 9 97,343,409 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGAGTTTTAAACCACCTTCCAAG -3'
(R):5'- TTGGGCTTGTAGATCCAGCTC -3'

Sequencing Primer
(F):5'- TTCCAAGCACACCGTTGG -3'
(R):5'- TAGATCCAGCTCTGTCGAGG -3'
Posted On 2014-06-23