Incidental Mutation 'R3971:Cd72'
ID |
310959 |
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 |
040839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R3971 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43449491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 275
(R275H)
|
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 damaging
Transcript: ENSMUST00000030179
AA Change: R299H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030179 Gene: ENSMUSG00000028459 AA Change: R299H
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: R238H
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095708 Gene: ENSMUSG00000028459 AA Change: R238H
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 damaging
Transcript: ENSMUST00000098105
AA Change: R275H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095709 Gene: ENSMUSG00000028459 AA Change: R275H
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: R292H
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103558 Gene: ENSMUSG00000028459 AA Change: R292H
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: R292H
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103559 Gene: ENSMUSG00000028459 AA Change: R292H
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: ENSMUST00000134850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137178
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156810
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
95% (38/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,713,506 (GRCm39) |
D120E |
unknown |
Het |
Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
A |
G |
14: 51,602,841 (GRCm39) |
Y59C |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
Nckap1l |
A |
G |
15: 103,370,987 (GRCm39) |
K189E |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
Wac |
T |
C |
18: 7,916,175 (GRCm39) |
V303A |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
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 |
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 |
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'- AGGCACTGTGGATGTAATATGG -3'
(R):5'- CACTGGAAGGATTTGGGAGC -3'
Sequencing Primer
(F):5'- CTAGCAGGTAGGACTACAGCCTG -3'
(R):5'- TGGAAGGATTTGGGAGCAATTAATTC -3'
|
Posted On |
2015-04-29 |