Incidental Mutation 'IGL02883:Crtam'
ID362870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtam
Ensembl Gene ENSMUSG00000032021
Gene Namecytotoxic and regulatory T cell molecule
Synonymsclass I-restricted T cell-associated molecule
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02883
Quality Score
Status
Chromosome9
Chromosomal Location40969691-41004628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40994501 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000139826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034519] [ENSMUST00000180384] [ENSMUST00000188848]
Predicted Effect probably benign
Transcript: ENSMUST00000034519
AA Change: V44A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034519
Gene: ENSMUSG00000032021
AA Change: V44A

DomainStartEndE-ValueType
IG 21 113 4.7e-9 SMART
Pfam:C2-set_2 119 205 2.7e-16 PFAM
low complexity region 222 239 N/A INTRINSIC
transmembrane domain 283 305 N/A INTRINSIC
low complexity region 326 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180384
AA Change: V44A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137837
Gene: ENSMUSG00000032021
AA Change: V44A

DomainStartEndE-ValueType
IG 21 113 4.7e-9 SMART
Pfam:C2-set_2 119 205 4.2e-15 PFAM
low complexity region 229 246 N/A INTRINSIC
transmembrane domain 290 312 N/A INTRINSIC
low complexity region 333 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188848
AA Change: V44A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139826
Gene: ENSMUSG00000032021
AA Change: V44A

DomainStartEndE-ValueType
IG 21 113 4.7e-9 SMART
Pfam:C2-set_2 119 205 1.9e-15 PFAM
low complexity region 229 246 N/A INTRINSIC
transmembrane domain 289 311 N/A INTRINSIC
low complexity region 332 351 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Homozygous null mice have defects in late stage T cell activation that leads to less production of inflammatory cytokines, higher proliferation, and an increase in T cell number with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Crtam
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0722:Crtam UTSW 9 40992616 missense probably damaging 1.00
R1423:Crtam UTSW 9 40973622 missense probably benign 0.36
R1859:Crtam UTSW 9 40973604 missense possibly damaging 0.71
R1935:Crtam UTSW 9 41004550 missense probably benign 0.34
R1936:Crtam UTSW 9 41004550 missense probably benign 0.34
R2090:Crtam UTSW 9 40984316 missense possibly damaging 0.77
R2360:Crtam UTSW 9 40973515 makesense probably null
R4812:Crtam UTSW 9 40984325 missense probably damaging 0.99
R5995:Crtam UTSW 9 40994540 missense possibly damaging 0.75
R6021:Crtam UTSW 9 40990181 missense probably damaging 1.00
R7428:Crtam UTSW 9 40981182 missense probably benign 0.24
RF044:Crtam UTSW 9 40984354 frame shift probably null
RF057:Crtam UTSW 9 40984354 frame shift probably null
Posted On2015-12-18