Incidental Mutation 'R4633:Cd44'
ID 349326
Institutional Source Beutler Lab
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene Name CD44 antigen
Synonyms Pgp-1, Ly-24, HERMES
MMRRC Submission 041898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R4633 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 102641486-102732010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 102683392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 214 (D214A)
Ref Sequence ENSEMBL: ENSMUSP00000106825 (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: D214A

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: D214A

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
AA Change: D214A

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: D214A

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
AA Change: D214A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087
AA Change: D214A

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
AA Change: D214A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087
AA Change: D214A

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 possibly damaging
Transcript: ENSMUST00000111191
AA Change: D214A

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: D214A

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
AA Change: D214A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087
AA Change: D214A

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 possibly damaging
Transcript: ENSMUST00000111194
AA Change: D214A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: D214A

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
AA Change: D214A

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: D214A

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 noncoding transcript
Transcript: ENSMUST00000124624
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erbb2 T A 11: 98,323,814 (GRCm39) I676N possibly damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2l13b C T 16: 19,349,034 (GRCm39) G212D possibly damaging Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Prpf4b A G 13: 35,084,425 (GRCm39) T938A probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Tvp23a C T 16: 10,244,909 (GRCm39) V146M probably benign Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Usp48 A G 4: 137,362,211 (GRCm39) K32R probably damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G 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
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
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 PCR Primer
(F):5'- TGGCACAATGACCAGGAAC -3'
(R):5'- AGCTATTGTCAACCGTGATGG -3'

Sequencing Primer
(F):5'- CTGACAGGAACAAGAGCTGGACTC -3'
(R):5'- TGATGGTACTCGCTACAGCAAG -3'
Posted On 2015-10-08