Incidental Mutation 'R8789:Cd72'
| ID |
670802 |
| 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 |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R8789 (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 43452628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 122
(S122P)
|
| 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: S122P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030179
Gene: ENSMUSG00000028459
AA Change: S122P
| 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: S68P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095708
Gene: ENSMUSG00000028459
AA Change: S68P
| 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: S98P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095709
Gene: ENSMUSG00000028459
AA Change: S98P
| 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: S122P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103558
Gene: ENSMUSG00000028459
AA Change: S122P
| 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: S122P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103559
Gene: ENSMUSG00000028459
AA Change: S122P
| 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 |
|
| Meta Mutation Damage Score |
0.3908 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| 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 |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
|
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 |
|
|
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'- TTGAAGTCTTAGAGCACCGGG -3'
Sequencing Primer
(F):5'- TCAGCGTCCTCGTGAGTC -3'
(R):5'- CTGGAGGAAGTGCACTCAAGTCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation