Incidental Mutation 'R5471:Cd72'
| ID |
433798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd72
|
| Ensembl Gene |
ENSMUSG00000028459 |
| Gene Name |
CD72 antigen |
| Synonyms |
Ly-m19, Ly-19, Ly-32, Lyb-2 |
| MMRRC Submission |
043032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R5471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43448345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 312
(I312V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030179]
[ENSMUST00000060864]
[ENSMUST00000098104]
[ENSMUST00000098105]
[ENSMUST00000107925]
[ENSMUST00000107926]
[ENSMUST00000138981]
|
| AlphaFold |
P21855 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030179
AA Change: I336V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: I336V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
348 |
2.28e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060864
|
| SMART Domains |
Protein: ENSMUSP00000050087
Gene: ENSMUSG00000028458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
52 |
306 |
5.4e-46 |
PFAM |
|
Pfam:Pkinase_Tyr
|
52 |
306 |
3.1e-47 |
PFAM |
|
low complexity region
|
316 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098104
AA Change: I275V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: I275V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
83 |
169 |
N/A |
INTRINSIC |
|
CLECT
|
178 |
287 |
2.48e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098105
AA Change: I312V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: I312V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
199 |
N/A |
INTRINSIC |
|
CLECT
|
208 |
324 |
2.28e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107925
AA Change: I322V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: I322V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
334 |
2.65e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107926
AA Change: I329V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: I329V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
223 |
N/A |
INTRINSIC |
|
CLECT
|
232 |
341 |
2.48e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138981
|
| SMART Domains |
Protein: ENSMUSP00000121067
Gene: ENSMUSG00000028458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
52 |
174 |
7.6e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
52 |
175 |
1.5e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired B cell development and delayed maturation, resulting in reduced numbers of mature B cells and an expansion of pre-B cells. Mice have fewer peripheral mature B-2 cells and more B-1 cells. B cells are hyperproliferative in response to stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
| Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
| Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
| Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
| Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
| Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
| Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
| Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
| Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
| Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
| Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
| Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
| Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
| Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
| Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
| Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
| Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
| Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
| Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
probably benign |
Het |
|
| Other mutations in Cd72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Cd72
|
APN |
4 |
43,448,365 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02861:Cd72
|
APN |
4 |
43,448,332 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03208:Cd72
|
APN |
4 |
43,452,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
grovel
|
UTSW |
4 |
43,454,515 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
scrape
|
UTSW |
4 |
43,452,628 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0239:Cd72
|
UTSW |
4 |
43,453,163 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0239:Cd72
|
UTSW |
4 |
43,453,163 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3848:Cd72
|
UTSW |
4 |
43,452,525 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3971:Cd72
|
UTSW |
4 |
43,449,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4872:Cd72
|
UTSW |
4 |
43,449,563 (GRCm39) |
unclassified |
probably benign |
|
|
R5098:Cd72
|
UTSW |
4 |
43,452,610 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5890:Cd72
|
UTSW |
4 |
43,454,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7132:Cd72
|
UTSW |
4 |
43,452,444 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7478:Cd72
|
UTSW |
4 |
43,454,515 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8152:Cd72
|
UTSW |
4 |
43,452,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8159:Cd72
|
UTSW |
4 |
43,450,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8442:Cd72
|
UTSW |
4 |
43,450,109 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8788:Cd72
|
UTSW |
4 |
43,450,185 (GRCm39) |
missense |
probably benign |
|
|
R8789:Cd72
|
UTSW |
4 |
43,452,628 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8964:Cd72
|
UTSW |
4 |
43,450,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9331:Cd72
|
UTSW |
4 |
43,454,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9373:Cd72
|
UTSW |
4 |
43,450,141 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9726:Cd72
|
UTSW |
4 |
43,452,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCAGACTGAGACGCTG -3'
(R):5'- TAAGGCCTCTGGGAGCTTTAG -3'
Sequencing Primer
(F):5'- CGCTGAAGGTGATGGATGTGAC -3'
(R):5'- GAAACCTGTTCCTGAACCATGTGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation