Incidental Mutation 'R5928:Cd44'
ID 459995
Institutional Source Beutler Lab
Gene Symbol Cd44
Ensembl Gene ENSMUSG00000005087
Gene Name CD44 antigen
Synonyms Pgp-1, Ly-24, HERMES
MMRRC Submission 044123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R5928 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 102641486-102732010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102654648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 470 (V470M)
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 damaging
Transcript: ENSMUST00000005218
AA Change: V673M

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: V673M

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: V473M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: V473M

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: V258M

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087
AA Change: V258M

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 possibly damaging
Transcript: ENSMUST00000111190
AA Change: V357M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087
AA Change: V357M

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: V391M

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: V391M

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: V327M

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087
AA Change: V327M

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 damaging
Transcript: ENSMUST00000111194
AA Change: V470M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: V470M

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: V550M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: V550M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (90/93)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,537,159 (GRCm39) I475L probably benign Het
Abcc2 C T 19: 43,807,797 (GRCm39) R813W probably damaging Het
Adam34 T C 8: 44,105,067 (GRCm39) T193A probably benign Het
Adgb T C 10: 10,254,531 (GRCm39) D1118G probably damaging Het
Adprh A C 16: 38,267,746 (GRCm39) S180A probably benign Het
Atad5 A T 11: 79,985,003 (GRCm39) D30V probably damaging Het
Best3 G A 10: 116,843,532 (GRCm39) D303N probably damaging Het
Bmp2k G C 5: 97,235,595 (GRCm39) probably benign Het
Btc A T 5: 91,514,004 (GRCm39) V86E probably damaging Het
Cacna2d4 G T 6: 119,258,659 (GRCm39) A582S probably benign Het
Carm1 A G 9: 21,486,598 (GRCm39) probably benign Het
Catsperg1 A T 7: 28,906,040 (GRCm39) S180T probably damaging Het
Ccdc185 A T 1: 182,575,047 (GRCm39) H547Q probably benign Het
Ccl6 A G 11: 83,479,658 (GRCm39) I115T possibly damaging Het
Cdc25a T C 9: 109,718,861 (GRCm39) V354A probably damaging Het
Cdhr2 C A 13: 54,881,832 (GRCm39) Q1122K probably benign Het
Cep290 A G 10: 100,387,692 (GRCm39) K1958E probably damaging Het
Cfap53 C T 18: 74,492,811 (GRCm39) P512S possibly damaging Het
Chrdl2 A T 7: 99,659,200 (GRCm39) probably benign Het
Cibar1 A G 4: 12,171,919 (GRCm39) probably benign Het
Clec7a A T 6: 129,442,430 (GRCm39) F199Y probably damaging Het
Cracd A C 5: 76,989,581 (GRCm39) probably benign Het
Dhx29 A G 13: 113,101,002 (GRCm39) K1182E probably benign Het
Dnah11 G T 12: 117,878,371 (GRCm39) probably null Het
Dnmt3a A G 12: 3,916,096 (GRCm39) S94G possibly damaging Het
Ecpas A T 4: 58,849,948 (GRCm39) M425K possibly damaging Het
Egfem1 T C 3: 29,637,077 (GRCm39) V42A possibly damaging Het
Eif3e T A 15: 43,138,728 (GRCm39) probably null Het
Exosc9 T A 3: 36,609,774 (GRCm39) probably benign Het
Fbxw18 T A 9: 109,529,149 (GRCm39) T135S probably damaging Het
Fbxw21 T C 9: 108,972,893 (GRCm39) E347G possibly damaging Het
Gcm2 A G 13: 41,256,874 (GRCm39) Y292H probably benign Het
Gltpd2 C A 11: 70,410,179 (GRCm39) Q46K probably benign Het
Gm6741 A G 17: 91,544,528 (GRCm39) Y97C probably damaging Het
Golgb1 T C 16: 36,732,349 (GRCm39) L532S probably damaging Het
Hdac3 C T 18: 38,074,394 (GRCm39) probably benign Het
Helz2 A T 2: 180,872,177 (GRCm39) F2554L possibly damaging Het
Hmbox1 T A 14: 65,061,122 (GRCm39) H384L possibly damaging Het
Hmcn1 G T 1: 150,474,648 (GRCm39) D4746E possibly damaging Het
Il17rb C A 14: 29,726,232 (GRCm39) probably null Het
Irak2 A T 6: 113,653,587 (GRCm39) I252F probably damaging Het
Khnyn C T 14: 56,123,344 (GRCm39) R33C probably damaging Het
Ksr1 G A 11: 78,950,545 (GRCm39) P20L probably damaging Het
Lamc3 T C 2: 31,811,721 (GRCm39) Y903H probably benign Het
Miga2 T C 2: 30,258,875 (GRCm39) probably benign Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Ncoa4 T C 14: 31,888,678 (GRCm39) probably null Het
Nphp3 T C 9: 103,912,996 (GRCm39) Y925H probably benign Het
Nr2c1 T G 10: 94,024,055 (GRCm39) L420R probably damaging Het
Onecut1 A G 9: 74,770,066 (GRCm39) N163S probably benign Het
Or5ac21 G A 16: 59,123,521 (GRCm39) E2K probably damaging Het
Or5d47 T A 2: 87,804,380 (GRCm39) S210C probably benign Het
Or7e166 A T 9: 19,625,049 (GRCm39) T309S probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Per2 C T 1: 91,372,373 (GRCm39) V234I probably damaging Het
Pign A G 1: 105,485,792 (GRCm39) V735A possibly damaging Het
Plekha7 T C 7: 115,727,809 (GRCm39) K85R probably benign Het
Pnma2 C T 14: 67,154,323 (GRCm39) T249I probably benign Het
Polr2b A G 5: 77,493,189 (GRCm39) D1057G probably damaging Het
Polrmt A T 10: 79,576,186 (GRCm39) L519H probably damaging Het
Ptar1 T C 19: 23,695,277 (GRCm39) I248T probably benign Het
Ptprh A C 7: 4,576,507 (GRCm39) L251R probably damaging Het
Purg T C 8: 33,876,980 (GRCm39) M206T probably benign Het
Pwp2 A T 10: 78,018,290 (GRCm39) F134I probably damaging Het
Riok3 T A 18: 12,286,075 (GRCm39) H434Q probably benign Het
Sorbs2 A G 8: 46,216,220 (GRCm39) I187V probably damaging Het
Tbc1d2b T C 9: 90,101,197 (GRCm39) I598V probably benign Het
Tdg T A 10: 82,477,204 (GRCm39) V85E probably benign Het
Tfb1m C T 17: 3,593,422 (GRCm39) V166I probably benign Het
Tmem163 A T 1: 127,419,383 (GRCm39) M274K probably damaging Het
Tpr T C 1: 150,303,878 (GRCm39) I1343T probably benign Het
Ttn T A 2: 76,719,794 (GRCm39) probably benign Het
Tut7 G A 13: 59,969,880 (GRCm39) A5V probably benign Het
Usp34 A G 11: 23,386,040 (GRCm39) T2156A probably damaging Het
Vmn1r215 A T 13: 23,260,487 (GRCm39) T176S possibly damaging Het
Vps52 C T 17: 34,180,100 (GRCm39) P268L possibly damaging Het
Xbp1 G A 11: 5,473,514 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,966,272 (GRCm39) F169L probably benign Het
Zfyve16 T C 13: 92,658,625 (GRCm39) R429G probably benign Het
Zzef1 A G 11: 72,803,678 (GRCm39) E2504G 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
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
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'- GCTCATCCATAGATACCTAGAGGG -3'
(R):5'- AACTTTCTTGGGAGGCGAGG -3'

Sequencing Primer
(F):5'- GCCTACAAGGAGGCTGTAGC -3'
(R):5'- CGAGGAGAGATTATATCTTTCGCC -3'
Posted On 2017-02-28