Incidental Mutation 'R1952:Cd44'
ID 217355
Institutional Source Beutler Lab
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene Name CD44 antigen
Synonyms Pgp-1, Ly-24, HERMES
MMRRC Submission 039966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R1952 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 102641486-102732010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102683432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 201 (T201S)
Ref Sequence ENSEMBL: ENSMUSP00000106821 (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 possibly damaging
Transcript: ENSMUST00000005218
AA Change: T201S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: T201S

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 possibly damaging
Transcript: ENSMUST00000060516
AA Change: T201S

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: T201S

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 possibly damaging
Transcript: ENSMUST00000099673
AA Change: T201S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087
AA Change: T201S

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 damaging
Transcript: ENSMUST00000111190
AA Change: T201S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087
AA Change: T201S

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: T201S

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: T201S

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 possibly damaging
Transcript: ENSMUST00000111192
AA Change: T201S

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087
AA Change: T201S

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: T201S

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: T201S

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 possibly damaging
Transcript: ENSMUST00000111198
AA Change: T201S

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: T201S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A G 14: 32,110,293 (GRCm39) V6A possibly damaging Het
Accsl G T 2: 93,689,778 (GRCm39) H376Q probably damaging Het
Adgrg1 T C 8: 95,735,119 (GRCm39) probably null Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Ankrd12 T C 17: 66,338,566 (GRCm39) D128G probably damaging Het
Bcl2l14 A G 6: 134,409,329 (GRCm39) Y301C probably damaging Het
Camsap3 A G 8: 3,654,789 (GRCm39) T804A probably damaging Het
Capn11 A T 17: 45,953,885 (GRCm39) W154R probably damaging Het
Cers4 G A 8: 4,573,461 (GRCm39) W319* probably null Het
Col27a1 T A 4: 63,202,130 (GRCm39) probably null Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dusp7 T A 9: 106,248,028 (GRCm39) C219S probably benign Het
Epha7 A G 4: 28,950,474 (GRCm39) N759S probably damaging Het
Fat1 T C 8: 45,486,963 (GRCm39) V3413A probably benign Het
Gls2 A G 10: 128,045,231 (GRCm39) H576R probably benign Het
Gm4884 G A 7: 40,693,671 (GRCm39) V547M probably benign Het
Hap1 A G 11: 100,243,105 (GRCm39) V174A probably damaging Het
Il12rb2 A G 6: 67,269,300 (GRCm39) S838P probably damaging Het
Ints8 T C 4: 11,221,150 (GRCm39) I742V probably benign Het
Katnal2 G T 18: 77,067,707 (GRCm39) S411R probably benign Het
Lrp1 A C 10: 127,403,300 (GRCm39) V2091G probably damaging Het
Mettl21c A T 1: 44,056,368 (GRCm39) D20E probably damaging Het
Mib1 A T 18: 10,812,077 (GRCm39) E991D possibly damaging Het
Mip T C 10: 128,061,772 (GRCm39) S8P possibly damaging Het
Mllt6 T C 11: 97,568,048 (GRCm39) S826P probably damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Myrfl C T 10: 116,658,716 (GRCm39) V414I probably benign Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nin T A 12: 70,077,700 (GRCm39) Q1035L probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 A G 7: 108,523,770 (GRCm39) V570A probably benign Het
Olfm3 A T 3: 114,895,589 (GRCm39) E157V probably null Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8g37 T C 9: 39,731,363 (GRCm39) S143P probably benign Het
Otud7a A G 7: 63,300,624 (GRCm39) D21G probably damaging Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pcf11 A T 7: 92,310,546 (GRCm39) S481T probably damaging Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Prl3a1 G A 13: 27,454,136 (GRCm39) G38E possibly damaging Het
Psmb8 T C 17: 34,419,884 (GRCm39) V246A probably damaging Het
Ptpn12 A T 5: 21,203,308 (GRCm39) V490E probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Qars1 G A 9: 108,390,380 (GRCm39) R427H probably benign Het
R3hdml T C 2: 163,340,216 (GRCm39) F128L probably benign Het
Rapgef4 A G 2: 72,038,471 (GRCm39) M541V probably benign Het
Rhbdf1 G A 11: 32,164,277 (GRCm39) R234* probably null Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Satb1 A T 17: 52,047,173 (GRCm39) L683Q probably damaging Het
Satb2 T C 1: 56,938,229 (GRCm39) T132A probably damaging Het
Sbspon A G 1: 15,930,519 (GRCm39) S156P probably damaging Het
Shb A T 4: 45,458,347 (GRCm39) probably null Het
She A G 3: 89,756,792 (GRCm39) K282R possibly damaging Het
Slc25a13 A G 6: 6,152,482 (GRCm39) L85P probably damaging Het
Slc7a13 A T 4: 19,841,578 (GRCm39) H475L probably benign Het
Sorl1 C T 9: 41,957,920 (GRCm39) V575I probably benign Het
Spag9 T A 11: 93,988,184 (GRCm39) C833S possibly damaging Het
Speer2 A C 16: 69,654,052 (GRCm39) N232K probably damaging Het
Syncrip A T 9: 88,358,927 (GRCm39) M194K probably damaging Het
Sytl3 A C 17: 6,995,732 (GRCm39) T171P probably damaging Het
Taar7f T A 10: 23,925,747 (GRCm39) Y114N probably damaging Het
Tamalin T C 15: 101,122,381 (GRCm39) Y67H probably benign Het
Tap1 C G 17: 34,412,481 (GRCm39) P506R probably damaging Het
Tle6 T C 10: 81,431,319 (GRCm39) D212G possibly damaging Het
Trim80 G T 11: 115,332,155 (GRCm39) E116* probably null Het
Ttll4 A G 1: 74,726,718 (GRCm39) R745G probably damaging Het
Vdac2 A T 14: 21,887,947 (GRCm39) I85F possibly damaging Het
Vmn1r188 A G 13: 22,272,309 (GRCm39) R88G probably damaging Het
Washc2 T C 6: 116,232,052 (GRCm39) S821P possibly damaging Het
Wdhd1 T C 14: 47,507,647 (GRCm39) Y213C probably damaging Het
Wdr55 C A 18: 36,893,437 (GRCm39) P33Q probably damaging Het
Yrdc C T 4: 124,745,739 (GRCm39) A32V probably benign Het
Zfp608 T A 18: 55,030,851 (GRCm39) K1030* probably null Het
Zfp618 T A 4: 63,050,555 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- CAGGAACAAGAGCTGGACTC -3'
(R):5'- AAGGTGTGTCTGTATCTCCTTC -3'

Sequencing Primer
(F):5'- CCCACAGCTAGATGTCTAGAGATG -3'
(R):5'- CAGCTATTGTCAACCGTGATG -3'
Posted On 2014-08-01