Incidental Mutation 'IGL02221:Cd44'
ID 285154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene Name CD44 antigen
Synonyms Pgp-1, Ly-24, HERMES
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL02221
Quality Score
Status
Chromosome 2
Chromosomal Location 102641486-102732010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102676858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 269 (M269K)
Ref Sequence ENSEMBL: ENSMUSP00000005218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005218] [ENSMUST00000060516] [ENSMUST00000099673] [ENSMUST00000111190] [ENSMUST00000111191] [ENSMUST00000111192] [ENSMUST00000111194] [ENSMUST00000111198]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005218
AA Change: M269K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: M269K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 251 276 N/A INTRINSIC
low complexity region 429 439 N/A INTRINSIC
low complexity region 640 653 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
PDB:2ZPY|B 710 729 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000060516
SMART Domains Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 229 239 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 489 503 N/A INTRINSIC
PDB:2ZPY|B 510 529 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000099673
SMART Domains Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 225 238 N/A INTRINSIC
low complexity region 274 288 N/A INTRINSIC
PDB:2ZPY|B 295 314 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111190
SMART Domains Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 324 337 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
PDB:2ZPY|B 394 413 8e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111191
SMART Domains Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 358 371 N/A INTRINSIC
low complexity region 407 421 N/A INTRINSIC
PDB:2ZPY|B 428 447 9e-7 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111192
SMART Domains Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 294 307 N/A INTRINSIC
low complexity region 343 357 N/A INTRINSIC
PDB:2ZPY|B 364 383 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111194
SMART Domains Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 268 278 N/A INTRINSIC
low complexity region 302 312 N/A INTRINSIC
low complexity region 437 450 N/A INTRINSIC
low complexity region 486 500 N/A INTRINSIC
PDB:2ZPY|B 507 526 1e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111198
SMART Domains Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LINK 34 125 5.88e-38 SMART
low complexity region 306 316 N/A INTRINSIC
low complexity region 517 530 N/A INTRINSIC
low complexity region 566 580 N/A INTRINSIC
PDB:2ZPY|B 587 606 1e-6 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired T lymphocyte trafficking resulting in muted inflammatory responses, altered myeloid progenitor distribution, reduced growth of tumors, and impaired uterine involution and maintenance of lactation. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(4) Targeted, other(3)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,907 (GRCm39) I24M probably benign Het
Ano5 G A 7: 51,220,071 (GRCm39) D390N probably damaging Het
Atp2c2 A G 8: 120,471,073 (GRCm39) Y407C probably damaging Het
B430306N03Rik T C 17: 48,631,223 (GRCm39) probably benign Het
Cdin1 T C 2: 115,469,547 (GRCm39) probably null Het
Cpped1 G T 16: 11,646,392 (GRCm39) P144Q probably damaging Het
Epas1 C T 17: 87,135,275 (GRCm39) T636M possibly damaging Het
Hsd17b3 G T 13: 64,236,865 (GRCm39) H26Q probably benign Het
Ighv8-9 A G 12: 115,431,947 (GRCm39) probably benign Het
Itih1 A T 14: 30,651,544 (GRCm39) C883S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lcn3 A T 2: 25,656,172 (GRCm39) M76L probably benign Het
Lin9 A T 1: 180,478,399 (GRCm39) M53L probably benign Het
Mast1 A G 8: 85,645,384 (GRCm39) V687A possibly damaging Het
Mmd2 C T 5: 142,555,212 (GRCm39) probably benign Het
Mroh2b T C 15: 4,953,123 (GRCm39) L619S probably damaging Het
Ngef T C 1: 87,468,418 (GRCm39) T114A probably benign Het
Nlrp12 T C 7: 3,289,597 (GRCm39) D305G possibly damaging Het
Nlrp1a A T 11: 71,013,944 (GRCm39) F435L possibly damaging Het
Nup188 A G 2: 30,220,653 (GRCm39) I909V possibly damaging Het
Osbpl3 A C 6: 50,304,347 (GRCm39) probably benign Het
P2ry2 G T 7: 100,647,321 (GRCm39) P328H possibly damaging Het
Prex2 A T 1: 11,131,569 (GRCm39) N46I probably benign Het
Prss42 T C 9: 110,632,243 (GRCm39) F325L possibly damaging Het
Reep5 A G 18: 34,482,850 (GRCm39) F120L probably damaging Het
Scg3 G T 9: 75,590,939 (GRCm39) F23L probably damaging Het
Scx A G 15: 76,343,295 (GRCm39) D200G probably benign Het
Setd5 C T 6: 113,098,131 (GRCm39) probably benign Het
Tcf4 T A 18: 69,480,438 (GRCm39) S23R probably damaging Het
Ttc4 A G 4: 106,533,793 (GRCm39) probably null Het
Tyro3 T A 2: 119,643,071 (GRCm39) C627S probably benign Het
Yipf2 T C 9: 21,502,764 (GRCm39) N106S possibly damaging Het
Zfp619 T C 7: 39,186,334 (GRCm39) L788P probably benign Het
Zfp831 G A 2: 174,485,519 (GRCm39) V65I probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign Het
Other mutations in Cd44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Cd44 APN 2 102,686,292 (GRCm39) missense possibly damaging 0.73
IGL01087:Cd44 APN 2 102,652,607 (GRCm39) missense probably damaging 1.00
IGL01413:Cd44 APN 2 102,644,632 (GRCm39) missense probably damaging 0.99
IGL01830:Cd44 APN 2 102,672,603 (GRCm39) splice site probably benign
IGL02271:Cd44 APN 2 102,661,732 (GRCm39) missense possibly damaging 0.93
IGL02552:Cd44 APN 2 102,679,076 (GRCm39) missense probably benign 0.01
IGL02861:Cd44 APN 2 102,662,826 (GRCm39) critical splice donor site probably null
IGL03309:Cd44 APN 2 102,644,522 (GRCm39) missense probably damaging 1.00
IGL03352:Cd44 APN 2 102,675,759 (GRCm39) intron probably benign
Jialin UTSW 2 102,695,715 (GRCm39) missense probably damaging 0.99
Kale UTSW 2 102,654,648 (GRCm39) missense probably damaging 0.99
N/A - 535:Cd44 UTSW 2 102,644,534 (GRCm39) missense possibly damaging 0.50
R0488:Cd44 UTSW 2 102,664,564 (GRCm39) splice site probably benign
R1441:Cd44 UTSW 2 102,676,763 (GRCm39) missense probably damaging 0.99
R1482:Cd44 UTSW 2 102,661,728 (GRCm39) missense probably damaging 1.00
R1497:Cd44 UTSW 2 102,673,300 (GRCm39) splice site probably null
R1803:Cd44 UTSW 2 102,664,597 (GRCm39) missense probably damaging 1.00
R1952:Cd44 UTSW 2 102,683,432 (GRCm39) missense probably damaging 0.98
R2093:Cd44 UTSW 2 102,644,629 (GRCm39) missense probably damaging 1.00
R2180:Cd44 UTSW 2 102,658,955 (GRCm39) missense possibly damaging 0.66
R2425:Cd44 UTSW 2 102,691,931 (GRCm39) missense probably damaging 1.00
R3687:Cd44 UTSW 2 102,731,695 (GRCm39) splice site probably null
R3820:Cd44 UTSW 2 102,731,738 (GRCm39) splice site probably null
R3821:Cd44 UTSW 2 102,731,738 (GRCm39) splice site probably null
R3822:Cd44 UTSW 2 102,731,738 (GRCm39) splice site probably null
R4060:Cd44 UTSW 2 102,731,687 (GRCm39) missense probably damaging 1.00
R4633:Cd44 UTSW 2 102,683,392 (GRCm39) missense possibly damaging 0.86
R4647:Cd44 UTSW 2 102,668,274 (GRCm39) missense possibly damaging 0.68
R4780:Cd44 UTSW 2 102,691,910 (GRCm39) missense probably damaging 1.00
R5087:Cd44 UTSW 2 102,661,699 (GRCm39) missense possibly damaging 0.83
R5118:Cd44 UTSW 2 102,695,715 (GRCm39) missense probably damaging 0.99
R5449:Cd44 UTSW 2 102,662,891 (GRCm39) missense probably damaging 1.00
R5642:Cd44 UTSW 2 102,731,687 (GRCm39) missense probably damaging 1.00
R5928:Cd44 UTSW 2 102,654,648 (GRCm39) missense probably damaging 0.99
R5995:Cd44 UTSW 2 102,692,015 (GRCm39) missense probably damaging 1.00
R5999:Cd44 UTSW 2 102,675,742 (GRCm39) missense probably benign 0.42
R7050:Cd44 UTSW 2 102,644,482 (GRCm39) missense probably damaging 0.99
R7350:Cd44 UTSW 2 102,664,607 (GRCm39) missense probably benign 0.19
R7797:Cd44 UTSW 2 102,679,079 (GRCm39) missense probably benign 0.34
R7866:Cd44 UTSW 2 102,672,604 (GRCm39) critical splice donor site probably null
R8138:Cd44 UTSW 2 102,662,842 (GRCm39) missense probably benign 0.00
R8185:Cd44 UTSW 2 102,654,665 (GRCm39) missense possibly damaging 0.52
R8732:Cd44 UTSW 2 102,664,645 (GRCm39) missense possibly damaging 0.67
R8955:Cd44 UTSW 2 102,683,363 (GRCm39) missense probably damaging 0.98
R9249:Cd44 UTSW 2 102,661,747 (GRCm39) missense possibly damaging 0.51
R9548:Cd44 UTSW 2 102,661,832 (GRCm39) missense possibly damaging 0.58
Posted On 2015-04-16