Incidental Mutation 'R5118:Cd44'
| ID |
392722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd44
|
| Ensembl Gene |
ENSMUSG00000005087 |
| Gene Name |
CD44 antigen |
| Synonyms |
Pgp-1, Ly-24, HERMES |
| MMRRC Submission |
042706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.200)
|
| Stock # |
R5118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
102641486-102732010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102695715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 52
(E52D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097265
(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: E52D
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005218
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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: E52D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062330
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000099673
AA Change: E52D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097265
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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: E52D
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106821
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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: E52D
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106822
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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: E52D
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106823
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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: E52D
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106825
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000124624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111198
AA Change: E52D
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106829
Gene: ENSMUSG00000005087
AA Change: E52D
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.8609 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
96% (52/54) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,672,696 (GRCm39) |
E648G |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,492,473 (GRCm39) |
S187G |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,814,204 (GRCm39) |
I603F |
unknown |
Het |
| Dmxl2 |
C |
A |
9: 54,368,271 (GRCm39) |
R233L |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,388,312 (GRCm39) |
F429L |
probably damaging |
Het |
| Epsti1 |
T |
G |
14: 78,224,122 (GRCm39) |
|
probably null |
Het |
| Erfe |
G |
T |
1: 91,298,438 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
A |
G |
2: 57,905,015 (GRCm39) |
D526G |
probably damaging |
Het |
| Gatd1 |
A |
T |
7: 140,986,719 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
T |
C |
2: 148,844,906 (GRCm39) |
|
probably benign |
Het |
| Gm6181 |
G |
A |
7: 52,405,364 (GRCm39) |
|
noncoding transcript |
Het |
| Irak2 |
T |
A |
6: 113,642,772 (GRCm39) |
V68D |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,284,669 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,042,296 (GRCm39) |
Q198K |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,244 (GRCm39) |
V728A |
possibly damaging |
Het |
| Micall2 |
G |
A |
5: 139,702,202 (GRCm39) |
T347M |
probably damaging |
Het |
| Mrap2 |
T |
C |
9: 87,064,756 (GRCm39) |
F166L |
possibly damaging |
Het |
| Msh3 |
A |
T |
13: 92,445,942 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
A |
4: 138,166,660 (GRCm39) |
L238Q |
probably damaging |
Het |
| Nuak1 |
G |
T |
10: 84,210,848 (GRCm39) |
H413Q |
probably benign |
Het |
| Or10j27 |
T |
C |
1: 172,958,484 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,248,002 (GRCm39) |
A931T |
probably damaging |
Het |
| Pramel20 |
T |
C |
4: 143,297,697 (GRCm39) |
L39P |
probably damaging |
Het |
| Pramel34 |
T |
A |
5: 93,785,656 (GRCm39) |
D208V |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,253 (GRCm39) |
Y223C |
probably damaging |
Het |
| Rbm15b |
G |
T |
9: 106,763,301 (GRCm39) |
A289E |
possibly damaging |
Het |
| Reg3b |
T |
A |
6: 78,349,111 (GRCm39) |
V79E |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,045 (GRCm39) |
I164M |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,285 (GRCm39) |
F217L |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,512,727 (GRCm39) |
L360P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,248,822 (GRCm39) |
V611A |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,542,293 (GRCm39) |
D1935E |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,093,044 (GRCm39) |
|
probably null |
Het |
| Tmppe |
T |
G |
9: 114,234,549 (GRCm39) |
S283A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,171,485 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,707,760 (GRCm39) |
I552T |
unknown |
Het |
| Tspan2 |
C |
A |
3: 102,657,151 (GRCm39) |
D45E |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,377,489 (GRCm39) |
D966E |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,712,745 (GRCm39) |
E1396G |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,868 (GRCm39) |
T388S |
probably benign |
Het |
| Wdr46 |
T |
C |
17: 34,167,811 (GRCm39) |
V508A |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,010,667 (GRCm39) |
Y878N |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp954 |
T |
A |
7: 7,118,714 (GRCm39) |
T277S |
probably benign |
Het |
|
| Other mutations in Cd44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CTTATTCAACTGTCAGGGAGGAG -3'
(R):5'- GCATGTTTGGCTTCTCCCAATG -3'
Sequencing Primer
(F):5'- GAGGAGCCTTCCAGCCATAAG -3'
(R):5'- CCCAATGCCCCATCTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation