Incidental Mutation 'R3822:Cd44'
ID 473968
Institutional Source Beutler Lab
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene Name CD44 antigen
Synonyms Pgp-1, Ly-24, HERMES
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R3822 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 102641486-102732010 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 102731738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005218] [ENSMUST00000060516] [ENSMUST00000099673] [ENSMUST00000111190] [ENSMUST00000111191] [ENSMUST00000111198] [ENSMUST00000111192] [ENSMUST00000111194]
AlphaFold no structure available at present
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 noncoding transcript
Transcript: ENSMUST00000083749
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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000124624
Predicted Effect probably null
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
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging 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
IGL02221:Cd44 APN 2 102,676,858 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers
Posted On 2017-04-14