Incidental Mutation 'IGL03329:Cimap2'
ID 416796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cimap2
Ensembl Gene ENSMUSG00000054362
Gene Name ciliary microtubule associated protein 2
Synonyms BC055111, Lexm
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03329
Quality Score
Status
Chromosome 4
Chromosomal Location 106448106-106474438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106464601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 353 (R353S)
Ref Sequence ENSEMBL: ENSMUSP00000139868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067387] [ENSMUST00000106788] [ENSMUST00000126324] [ENSMUST00000189032]
AlphaFold A2AVQ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000067387
AA Change: R353S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066732
Gene: ENSMUSG00000054362
AA Change: R353S

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 63 83 1.3e-2 PFAM
Pfam:SHIPPO-rpt 119 152 3.5e-4 PFAM
low complexity region 157 173 N/A INTRINSIC
Pfam:SHIPPO-rpt 205 240 4.3e-3 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106788
AA Change: R353S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102400
Gene: ENSMUSG00000054362
AA Change: R353S

DomainStartEndE-ValueType
internal_repeat_1 62 146 2.56e-5 PROSPERO
low complexity region 157 173 N/A INTRINSIC
internal_repeat_1 204 279 2.56e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000126324
Predicted Effect possibly damaging
Transcript: ENSMUST00000189032
AA Change: R353S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139868
Gene: ENSMUSG00000054362
AA Change: R353S

DomainStartEndE-ValueType
Pfam:SHIPPO-rpt 63 83 1.3e-2 PFAM
Pfam:SHIPPO-rpt 119 152 3.5e-4 PFAM
low complexity region 157 173 N/A INTRINSIC
Pfam:SHIPPO-rpt 205 240 4.3e-3 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Heterozygous null mice show decreased CD8-positive, alpha-beta T cell number and decreased cytotoxic T cell cytolysis in response to lymphocytic choriomeningitis virus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,047 (GRCm39) D2598G probably benign Het
Abcf2 T G 5: 24,776,246 (GRCm39) probably null Het
Acsl1 T A 8: 46,946,031 (GRCm39) C55S possibly damaging Het
Adam22 T A 5: 8,199,210 (GRCm39) M249L possibly damaging Het
Alk A G 17: 72,206,159 (GRCm39) probably benign Het
Ambn T G 5: 88,609,527 (GRCm39) S78R probably benign Het
Apbb1ip T A 2: 22,757,729 (GRCm39) V449D possibly damaging Het
Atp13a5 A T 16: 29,152,883 (GRCm39) Y194* probably null Het
Cacul1 A T 19: 60,531,489 (GRCm39) F260Y probably damaging Het
Cfap46 A G 7: 139,181,081 (GRCm39) I2640T probably damaging Het
Chd7 T C 4: 8,841,108 (GRCm39) S1446P probably damaging Het
Clcn2 G A 16: 20,530,902 (GRCm39) T276I probably damaging Het
Dcbld1 T G 10: 52,195,721 (GRCm39) Y310D probably damaging Het
Dennd4c G A 4: 86,696,113 (GRCm39) V157I probably damaging Het
Dennd5b G T 6: 148,899,758 (GRCm39) T1213K possibly damaging Het
Dusp8 A T 7: 141,638,097 (GRCm39) L177* probably null Het
Erbb4 T C 1: 68,367,281 (GRCm39) S479G probably benign Het
Gpbp1 T A 13: 111,589,787 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,608,661 (GRCm39) Q1507L probably damaging Het
Inppl1 G T 7: 101,473,587 (GRCm39) T1021K possibly damaging Het
Klk1b9 A G 7: 43,628,838 (GRCm39) E114G probably benign Het
Klre1 T C 6: 129,562,660 (GRCm39) probably benign Het
Lancl1 T C 1: 67,060,209 (GRCm39) Y72C probably damaging Het
Lilra6 A G 7: 3,917,647 (GRCm39) probably benign Het
Magi2 T C 5: 20,671,126 (GRCm39) V490A possibly damaging Het
Myo3b T A 2: 70,084,803 (GRCm39) N720K probably damaging Het
Or2ah1 A C 2: 85,653,729 (GRCm39) D138A probably benign Het
Or7e166 T C 9: 19,624,597 (GRCm39) V158A probably benign Het
Ppp2r3d T A 9: 101,003,630 (GRCm39) probably benign Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Scn2a G A 2: 65,594,973 (GRCm39) D1941N probably benign Het
Sgpp2 T C 1: 78,367,200 (GRCm39) I111T probably benign Het
Sh3bp2 T C 5: 34,716,546 (GRCm39) V319A probably benign Het
Slc12a3 A C 8: 95,092,519 (GRCm39) Q980P possibly damaging Het
Slc39a8 G T 3: 135,590,474 (GRCm39) G389V probably damaging Het
Slc5a3 T C 16: 91,874,348 (GRCm39) I135T probably damaging Het
Smu1 A G 4: 40,739,568 (GRCm39) V414A possibly damaging Het
Tlr12 A G 4: 128,510,645 (GRCm39) F535S possibly damaging Het
Trim47 A G 11: 115,997,254 (GRCm39) V501A probably damaging Het
Vmn1r16 A T 6: 57,300,603 (GRCm39) N6K probably damaging Het
Vwce G A 19: 10,637,360 (GRCm39) C711Y possibly damaging Het
Wdr25 C T 12: 108,864,262 (GRCm39) L136F probably benign Het
Xpo1 A G 11: 23,234,306 (GRCm39) Q437R probably benign Het
Zfp169 C A 13: 48,644,270 (GRCm39) probably benign Het
Zfp607b A T 7: 27,403,295 (GRCm39) I584F probably damaging Het
Zzef1 T A 11: 72,808,099 (GRCm39) probably benign Het
Other mutations in Cimap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02576:Cimap2 APN 4 106,448,825 (GRCm39) missense possibly damaging 0.86
IGL02583:Cimap2 APN 4 106,468,602 (GRCm39) splice site probably benign
R0294:Cimap2 UTSW 4 106,470,361 (GRCm39) missense probably damaging 1.00
R1875:Cimap2 UTSW 4 106,470,453 (GRCm39) splice site probably benign
R2960:Cimap2 UTSW 4 106,470,615 (GRCm39) missense probably damaging 1.00
R4654:Cimap2 UTSW 4 106,467,612 (GRCm39) missense probably benign 0.03
R4836:Cimap2 UTSW 4 106,467,724 (GRCm39) critical splice acceptor site probably null
R5436:Cimap2 UTSW 4 106,467,690 (GRCm39) missense probably benign 0.00
R6086:Cimap2 UTSW 4 106,470,403 (GRCm39) missense probably damaging 1.00
R6580:Cimap2 UTSW 4 106,468,711 (GRCm39) missense possibly damaging 0.73
R6952:Cimap2 UTSW 4 106,467,596 (GRCm39) critical splice donor site probably null
R7995:Cimap2 UTSW 4 106,473,112 (GRCm39) missense probably benign 0.33
R8118:Cimap2 UTSW 4 106,470,595 (GRCm39) missense possibly damaging 0.92
R8258:Cimap2 UTSW 4 106,448,859 (GRCm39) missense probably damaging 1.00
R9260:Cimap2 UTSW 4 106,472,634 (GRCm39) missense probably benign 0.00
Z1176:Cimap2 UTSW 4 106,464,497 (GRCm39) missense probably benign 0.15
Posted On 2016-08-02