Incidental Mutation 'R5098:Cd72'
ID |
388121 |
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 |
042687-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R5098 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43452610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 74
(G74R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095708
(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: G128R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030179 Gene: ENSMUSG00000028459 AA Change: G128R
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 damaging
Transcript: ENSMUST00000098104
AA Change: G74R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095708 Gene: ENSMUSG00000028459 AA Change: G74R
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 |
possibly damaging
Transcript: ENSMUST00000098105
AA Change: G104R
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095709 Gene: ENSMUSG00000028459 AA Change: G104R
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: G128R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103558 Gene: ENSMUSG00000028459 AA Change: G128R
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: G128R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103559 Gene: ENSMUSG00000028459 AA Change: G128R
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: ENSMUST00000141198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140284
|
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (54/54) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,847,944 (GRCm39) |
I784V |
probably benign |
Het |
Agxt |
A |
G |
1: 93,065,029 (GRCm39) |
H146R |
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,177 (GRCm39) |
F201L |
probably damaging |
Het |
Bcl2a1b |
T |
A |
9: 89,081,432 (GRCm39) |
M7K |
probably benign |
Het |
Card10 |
G |
A |
15: 78,660,917 (GRCm39) |
A1030V |
probably benign |
Het |
Ccdc66 |
G |
A |
14: 27,220,750 (GRCm39) |
T58M |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,398,113 (GRCm39) |
K749R |
probably damaging |
Het |
Commd3 |
A |
T |
2: 18,678,988 (GRCm39) |
T102S |
possibly damaging |
Het |
Cyp2f2 |
A |
G |
7: 26,829,304 (GRCm39) |
T270A |
possibly damaging |
Het |
Dclre1b |
A |
G |
3: 103,716,452 (GRCm39) |
|
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,061,459 (GRCm39) |
D380E |
probably damaging |
Het |
Dhx58 |
T |
C |
11: 100,585,999 (GRCm39) |
E674G |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,640,101 (GRCm39) |
S128P |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,877,048 (GRCm39) |
D129G |
probably damaging |
Het |
Exoc5 |
T |
C |
14: 49,286,304 (GRCm39) |
T108A |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 38,942,438 (GRCm39) |
S444P |
probably benign |
Het |
Gm3327 |
A |
T |
14: 44,362,292 (GRCm39) |
I64F |
unknown |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gpr15 |
T |
A |
16: 58,538,890 (GRCm39) |
R66S |
probably damaging |
Het |
Hmga1b |
T |
C |
11: 120,654,018 (GRCm39) |
S102P |
probably benign |
Het |
Kat6b |
G |
A |
14: 21,669,083 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,467 (GRCm39) |
Y279C |
probably damaging |
Het |
Krtap9-3 |
C |
A |
11: 99,488,816 (GRCm39) |
C22F |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,115,185 (GRCm39) |
D817V |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,381,926 (GRCm39) |
D588G |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t6 |
A |
G |
14: 14,175,683 (GRCm38) |
V133A |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,420,976 (GRCm39) |
I31V |
probably benign |
Het |
Pcdhb20 |
A |
G |
18: 37,637,858 (GRCm39) |
D128G |
probably damaging |
Het |
Pgap6 |
A |
T |
17: 26,337,902 (GRCm39) |
N429Y |
probably damaging |
Het |
Ppil6 |
A |
G |
10: 41,366,616 (GRCm39) |
E47G |
probably null |
Het |
Rad17 |
A |
T |
13: 100,754,154 (GRCm39) |
*689K |
probably null |
Het |
Scin |
A |
T |
12: 40,127,541 (GRCm39) |
Y416* |
probably null |
Het |
Serf1 |
A |
G |
13: 100,245,575 (GRCm39) |
T18A |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,906,891 (GRCm39) |
|
probably benign |
Het |
Slc39a8 |
C |
A |
3: 135,563,918 (GRCm39) |
N254K |
probably benign |
Het |
Spint3 |
A |
G |
2: 164,411,821 (GRCm39) |
F63L |
probably damaging |
Het |
Suox |
A |
T |
10: 128,507,027 (GRCm39) |
S334T |
probably damaging |
Het |
Tas2r119 |
A |
G |
15: 32,178,228 (GRCm39) |
M265V |
probably benign |
Het |
Tmem126b |
A |
G |
7: 90,118,850 (GRCm39) |
L146P |
probably damaging |
Het |
Trpc3 |
G |
T |
3: 36,717,047 (GRCm39) |
D330E |
probably benign |
Het |
Ugt2a2 |
T |
C |
5: 87,612,040 (GRCm39) |
E290G |
possibly damaging |
Het |
Ugt2b37 |
T |
A |
5: 87,390,812 (GRCm39) |
T352S |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,930 (GRCm39) |
V249A |
probably damaging |
Het |
Zc3h18 |
A |
G |
8: 123,113,608 (GRCm39) |
D200G |
probably damaging |
Het |
Zfp652 |
T |
C |
11: 95,643,762 (GRCm39) |
V140A |
probably 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 |
|
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 |
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'- CAGGCTTGTAGTTGCTGCTC -3'
(R):5'- TGAAGTCTTAGAGCACCGGG -3'
Sequencing Primer
(F):5'- TCAGCGTCCTCGTGAGTC -3'
(R):5'- CTGGAGGAAGTGCACTCAAGTCTC -3'
|
Posted On |
2016-06-06 |