Incidental Mutation 'R8159:Cd72'
ID |
633420 |
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 |
067585-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R8159 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43447724-43454720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43450174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 245
(Y245H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030179
(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: Y245H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030179 Gene: ENSMUSG00000028459 AA Change: Y245H
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: Y191H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095708 Gene: ENSMUSG00000028459 AA Change: Y191H
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: Y221H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095709 Gene: ENSMUSG00000028459 AA Change: Y221H
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 damaging
Transcript: ENSMUST00000107925
AA Change: Y245H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103558 Gene: ENSMUSG00000028459 AA Change: Y245H
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 damaging
Transcript: ENSMUST00000107926
AA Change: Y245H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103559 Gene: ENSMUSG00000028459 AA Change: Y245H
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: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
100% (49/49) |
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 |
Aadacl2fm1 |
C |
A |
3: 59,843,843 (GRCm39) |
P179Q |
probably damaging |
Het |
Abcc1 |
C |
T |
16: 14,290,794 (GRCm39) |
T1468I |
probably damaging |
Het |
Adrb3 |
A |
C |
8: 27,718,099 (GRCm39) |
C117G |
probably benign |
Het |
Aff4 |
A |
T |
11: 53,302,721 (GRCm39) |
S1065C |
possibly damaging |
Het |
Agrn |
G |
A |
4: 156,256,825 (GRCm39) |
A1260V |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,488,963 (GRCm39) |
|
probably null |
Het |
BC005537 |
T |
A |
13: 24,993,916 (GRCm39) |
H159Q |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,274,488 (GRCm39) |
D625G |
probably benign |
Het |
Ceacam20 |
G |
T |
7: 19,710,109 (GRCm39) |
V378L |
probably damaging |
Het |
Chpf |
C |
T |
1: 75,455,436 (GRCm39) |
R105K |
probably null |
Het |
Chst9 |
A |
T |
18: 15,585,365 (GRCm39) |
Y399* |
probably null |
Het |
Cntn5 |
A |
G |
9: 10,145,386 (GRCm39) |
I108T |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,291,324 (GRCm39) |
T931A |
unknown |
Het |
D630045J12Rik |
T |
C |
6: 38,105,410 (GRCm39) |
H1890R |
probably damaging |
Het |
Dkk2 |
T |
C |
3: 131,880,739 (GRCm39) |
I128T |
probably benign |
Het |
Ece2 |
C |
T |
16: 20,430,534 (GRCm39) |
P54S |
probably damaging |
Het |
Fhip2a |
T |
C |
19: 57,372,697 (GRCm39) |
|
probably null |
Het |
Fry |
A |
T |
5: 150,322,998 (GRCm39) |
T1050S |
probably benign |
Het |
Gfra2 |
A |
G |
14: 71,133,397 (GRCm39) |
K76E |
probably damaging |
Het |
Gigyf1 |
A |
T |
5: 137,520,457 (GRCm39) |
D423V |
unknown |
Het |
Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,369,003 (GRCm39) |
Q403R |
probably null |
Het |
Hes5 |
A |
G |
4: 155,045,502 (GRCm39) |
N17S |
probably benign |
Het |
Insrr |
T |
A |
3: 87,707,735 (GRCm39) |
L59H |
probably damaging |
Het |
Irs1 |
A |
C |
1: 82,266,290 (GRCm39) |
I642S |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,306,633 (GRCm39) |
V363A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,028,238 (GRCm39) |
H983R |
possibly damaging |
Het |
Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,102,517 (GRCm39) |
M729L |
probably benign |
Het |
Or51v14 |
G |
A |
7: 103,261,347 (GRCm39) |
T71I |
possibly damaging |
Het |
Or7e178 |
A |
C |
9: 20,226,015 (GRCm39) |
I67S |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
Pals2 |
A |
T |
6: 50,171,527 (GRCm39) |
E392V |
probably benign |
Het |
Pcdhgc5 |
A |
G |
18: 37,954,175 (GRCm39) |
E483G |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,680,747 (GRCm39) |
E20G |
possibly damaging |
Het |
Ptprz1 |
A |
G |
6: 23,001,662 (GRCm39) |
I1251V |
probably benign |
Het |
Rfx2 |
A |
T |
17: 57,110,605 (GRCm39) |
M127K |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,312,407 (GRCm39) |
N668S |
probably benign |
Het |
Smg6 |
G |
A |
11: 74,929,465 (GRCm39) |
V965M |
probably damaging |
Het |
Spen |
A |
T |
4: 141,202,314 (GRCm39) |
H2104Q |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,069,396 (GRCm39) |
E2797K |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,087,815 (GRCm39) |
S1755G |
probably benign |
Het |
Sycp2 |
A |
C |
2: 177,996,770 (GRCm39) |
S1144R |
probably damaging |
Het |
Tsen54 |
T |
A |
11: 115,711,804 (GRCm39) |
L407* |
probably null |
Het |
Uba1y |
T |
A |
Y: 828,806 (GRCm39) |
I538K |
possibly damaging |
Het |
Vil1 |
C |
A |
1: 74,463,136 (GRCm39) |
H440N |
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 |
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 |
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'- CGTATCTGTTCTGGGGAAGC -3'
(R):5'- TCAAGGGCTAAAGCTGATGG -3'
Sequencing Primer
(F):5'- TGCAAACCATGGCATGTGTG -3'
(R):5'- GCTAAAGCTGATGGAGACATGATG -3'
|
Posted On |
2020-07-13 |