Incidental Mutation 'IGL01830:Cd44'
ID154778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene NameCD44 antigen
SynonymsPgp-1, HERMES, Ly-24
Accession Numbers

Genbank: NM_009851; MGI: 88338

Is this an essential gene? Probably non essential (E-score: 0.246) question?
Stock #IGL01830
Quality Score
Status
Chromosome2
Chromosomal Location102811141-102901665 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 102842258 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005218] [ENSMUST00000060516] [ENSMUST00000099673] [ENSMUST00000111190] [ENSMUST00000111191] [ENSMUST00000111192] [ENSMUST00000111194] [ENSMUST00000111198]
Predicted Effect probably benign
Transcript: ENSMUST00000005218
SMART Domains Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,899,029 P252Q probably damaging Het
Anks4b T A 7: 120,173,996 N26K probably damaging Het
Arrdc5 C T 17: 56,294,652 V158I probably damaging Het
Catsper2 T C 2: 121,407,362 D179G probably damaging Het
Ceacam3 T A 7: 17,155,000 D231E possibly damaging Het
Cep57l1 C T 10: 41,728,653 C160Y probably benign Het
Chek2 T A 5: 110,873,508 L528Q probably benign Het
Ciita T C 16: 10,521,051 L973P probably damaging Het
Dock2 A T 11: 34,691,917 L637* probably null Het
Fsip2 A C 2: 82,984,929 I3669L probably benign Het
Gapvd1 A G 2: 34,688,956 V1218A probably benign Het
Gip T C 11: 96,028,724 L91S possibly damaging Het
Gp2 T C 7: 119,451,542 D322G probably damaging Het
Ift172 A G 5: 31,285,292 V177A probably damaging Het
Kng2 T C 16: 22,988,051 D466G probably damaging Het
Lpar5 G A 6: 125,081,822 A169T probably benign Het
Med13 C T 11: 86,288,928 probably benign Het
Meiob T A 17: 24,835,131 C391S probably benign Het
Mgat5 A G 1: 127,412,132 T417A probably damaging Het
Myo1b A T 1: 51,797,465 L279* probably null Het
Myo1g T A 11: 6,514,522 K513* probably null Het
Nxpe2 A T 9: 48,326,494 S154T probably damaging Het
Ogn C T 13: 49,609,247 Q22* probably null Het
Olfr1259 A G 2: 89,943,431 L228S probably benign Het
Pacs2 A T 12: 113,056,954 K316* probably null Het
Pelo T A 13: 115,088,595 I365F probably damaging Het
Phf3 G A 1: 30,814,067 Q1021* probably null Het
Pik3r4 A G 9: 105,644,955 D240G probably damaging Het
Pknox1 T C 17: 31,595,310 M203T probably benign Het
Pld1 T C 3: 28,048,004 probably benign Het
Rabgef1 G T 5: 130,212,066 C342F possibly damaging Het
Rbm19 A C 5: 120,124,695 K307T possibly damaging Het
Sdcbp2 T A 2: 151,589,574 I289N probably damaging Het
Slc5a12 G A 2: 110,597,806 G69R probably damaging Het
Spag1 C A 15: 36,221,559 S599R probably benign Het
Ubr4 A T 4: 139,472,500 D4565V probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn1r225 T C 17: 20,502,455 S53P probably damaging Het
Xrcc1 T A 7: 24,573,342 probably benign Het
Other mutations in Cd44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Cd44 APN 2 102855947 missense possibly damaging 0.73
IGL01087:Cd44 APN 2 102822262 missense probably damaging 1.00
IGL01413:Cd44 APN 2 102814287 missense probably damaging 0.99
IGL02221:Cd44 APN 2 102846513 missense probably benign 0.01
IGL02271:Cd44 APN 2 102831387 missense possibly damaging 0.93
IGL02552:Cd44 APN 2 102848731 missense probably benign 0.01
IGL02861:Cd44 APN 2 102832481 critical splice donor site probably null
IGL03309:Cd44 APN 2 102814177 missense probably damaging 1.00
IGL03352:Cd44 APN 2 102845414 intron probably benign
Jialin UTSW 2 102865370 missense probably damaging 0.99
Kale UTSW 2 102824303 missense probably damaging 0.99
N/A - 535:Cd44 UTSW 2 102814189 missense possibly damaging 0.50
R0488:Cd44 UTSW 2 102834219 splice site probably benign
R1441:Cd44 UTSW 2 102846418 missense probably damaging 0.99
R1482:Cd44 UTSW 2 102831383 missense probably damaging 1.00
R1497:Cd44 UTSW 2 102842955 splice site probably null
R1803:Cd44 UTSW 2 102834252 missense probably damaging 1.00
R1952:Cd44 UTSW 2 102853087 missense probably damaging 0.98
R2093:Cd44 UTSW 2 102814284 missense probably damaging 1.00
R2180:Cd44 UTSW 2 102828610 missense possibly damaging 0.66
R2425:Cd44 UTSW 2 102861586 missense probably damaging 1.00
R3687:Cd44 UTSW 2 102901350 utr 5 prime probably null
R3820:Cd44 UTSW 2 102901393 unclassified probably null
R3821:Cd44 UTSW 2 102901393 unclassified probably null
R3822:Cd44 UTSW 2 102901393 unclassified probably null
R4060:Cd44 UTSW 2 102901342 missense probably damaging 1.00
R4633:Cd44 UTSW 2 102853047 missense possibly damaging 0.86
R4647:Cd44 UTSW 2 102837929 missense possibly damaging 0.68
R4780:Cd44 UTSW 2 102861565 missense probably damaging 1.00
R5087:Cd44 UTSW 2 102831354 missense possibly damaging 0.83
R5118:Cd44 UTSW 2 102865370 missense probably damaging 0.99
R5449:Cd44 UTSW 2 102832546 missense probably damaging 1.00
R5642:Cd44 UTSW 2 102901342 missense probably damaging 1.00
R5928:Cd44 UTSW 2 102824303 missense probably damaging 0.99
R5995:Cd44 UTSW 2 102861670 missense probably damaging 1.00
R5999:Cd44 UTSW 2 102845397 missense probably benign 0.42
R7050:Cd44 UTSW 2 102814137 missense probably damaging 0.99
Posted On2014-02-04