Incidental Mutation 'R8442:Cd72'
| ID |
654239 |
| 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 |
067779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R8442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43450109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 266
(K266N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030179]
[ENSMUST00000060864]
[ENSMUST00000098104]
[ENSMUST00000098105]
[ENSMUST00000107925]
[ENSMUST00000107926]
[ENSMUST00000138981]
|
| AlphaFold |
P21855 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030179
AA Change: K266N
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: K266N
| 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 |
possibly damaging
Transcript: ENSMUST00000098104
AA Change: K212N
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: K212N
| 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: K242N
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: K242N
| 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 |
possibly damaging
Transcript: ENSMUST00000107925
AA Change: K266N
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: K266N
| 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 |
possibly damaging
Transcript: ENSMUST00000107926
AA Change: K266N
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: K266N
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
T |
C |
10: 128,104,891 (GRCm39) |
L15P |
probably damaging |
Het |
| BC048671 |
T |
C |
6: 90,282,095 (GRCm39) |
F84S |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| C2cd4a |
C |
T |
9: 67,739,039 (GRCm39) |
M1I |
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,542,781 (GRCm39) |
F2328S |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,318,855 (GRCm39) |
Y2948C |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,240,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
A |
G |
19: 10,248,883 (GRCm39) |
F24L |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,568,849 (GRCm39) |
T2860A |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,001 (GRCm39) |
K22N |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,512,983 (GRCm39) |
R1118Q |
probably damaging |
Het |
| Foxl1 |
T |
A |
8: 121,855,224 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Gm572 |
G |
T |
4: 148,743,450 (GRCm39) |
R140L |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,205,833 (GRCm39) |
R676G |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,560,504 (GRCm39) |
Y12C |
probably damaging |
Het |
| Igf2bp2 |
A |
C |
16: 21,883,841 (GRCm39) |
|
probably null |
Het |
| Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
| Il5 |
C |
T |
11: 53,612,651 (GRCm39) |
P54S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,125,318 (GRCm39) |
I245T |
possibly damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,140 (GRCm39) |
N381I |
possibly damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,500,908 (GRCm39) |
F679S |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,598,383 (GRCm39) |
F742L |
probably benign |
Het |
| Msh3 |
T |
C |
13: 92,349,020 (GRCm39) |
T1071A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,220 (GRCm39) |
T1374A |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,091 (GRCm39) |
I47N |
probably damaging |
Het |
| Or5p75-ps1 |
A |
C |
7: 108,107,851 (GRCm39) |
Q196P |
unknown |
Het |
| P3h2 |
A |
G |
16: 25,805,955 (GRCm39) |
I296T |
probably benign |
Het |
| Pcdhb21 |
A |
T |
18: 37,646,841 (GRCm39) |
|
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,566,002 (GRCm39) |
G25C |
probably damaging |
Het |
| Ptprm |
C |
A |
17: 67,251,312 (GRCm39) |
A522S |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,624,231 (GRCm39) |
D512G |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,592,608 (GRCm39) |
T346A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,163,938 (GRCm39) |
S2P |
unknown |
Het |
| Sfrp5 |
A |
G |
19: 42,187,236 (GRCm39) |
V278A |
probably benign |
Het |
| Taar1 |
T |
A |
10: 23,796,522 (GRCm39) |
C73* |
probably null |
Het |
| Tek |
T |
A |
4: 94,715,922 (GRCm39) |
L448Q |
probably benign |
Het |
| Tmem132a |
A |
C |
19: 10,835,833 (GRCm39) |
L899R |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,711,845 (GRCm39) |
|
probably benign |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,212,568 (GRCm39) |
S925P |
probably damaging |
Het |
| Unc13d |
A |
T |
11: 115,958,657 (GRCm39) |
D786E |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,728 (GRCm39) |
T154A |
possibly damaging |
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 |
|
R5471:Cd72
|
UTSW |
4 |
43,448,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AAGATGCCAAAGCTACTGCC -3'
(R):5'- TCATTAACAACCAGCTGGCCAG -3'
Sequencing Primer
(F):5'- CCACACTTACTGGCTAATAGTGTGAC -3'
(R):5'- CAGTTGGTCACTTTATTATCCCAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation