Incidental Mutation 'R8940:Plcl2'
| ID |
680949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl2
|
| Ensembl Gene |
ENSMUSG00000038910 |
| Gene Name |
phospholipase C-like 2 |
| Synonyms |
Plce2, PRIP-2 |
| MMRRC Submission |
068780-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R8940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
50816431-50995512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50915790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 933
(D933V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043938]
|
| AlphaFold |
Q8K394 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043938
AA Change: D933V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046584
Gene: ENSMUSG00000038910
AA Change: D933V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
49 |
N/A |
INTRINSIC |
|
PH
|
143 |
254 |
2.88e-5 |
SMART |
|
Pfam:EF-hand_like
|
344 |
426 |
3.7e-29 |
PFAM |
|
PLCXc
|
427 |
571 |
2.19e-84 |
SMART |
|
PLCYc
|
619 |
735 |
4.37e-61 |
SMART |
|
C2
|
756 |
862 |
3.45e-19 |
SMART |
|
| Meta Mutation Damage Score |
0.3178 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (73/74) |
| MGI Phenotype |
PHENOTYPE: Inactivation of this gene is compatible with normal immune cell development, though the B cell response is dysregulated. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
T |
5: 113,241,068 (GRCm39) |
S1709T |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,287,440 (GRCm39) |
V135A |
probably benign |
Het |
| Alkbh3 |
G |
T |
2: 93,838,391 (GRCm39) |
P60H |
probably damaging |
Het |
| Armc3 |
A |
C |
2: 19,240,393 (GRCm39) |
Y50S |
probably damaging |
Het |
| Arpc4 |
T |
C |
6: 113,362,599 (GRCm39) |
V70A |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,273,508 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
T |
8: 117,857,347 (GRCm39) |
Y438F |
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,653,084 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,783,226 (GRCm39) |
S189L |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,072 (GRCm39) |
T312A |
probably benign |
Het |
| Crym |
T |
A |
7: 119,794,703 (GRCm39) |
N172I |
probably benign |
Het |
| Depdc7 |
A |
G |
2: 104,554,913 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,363,854 (GRCm39) |
|
probably benign |
Het |
| Dntt |
T |
A |
19: 41,046,990 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
T |
A |
9: 77,890,007 (GRCm39) |
S273T |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,147,636 (GRCm39) |
L3869M |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,241 (GRCm39) |
|
probably null |
Het |
| Gldc |
C |
T |
19: 30,128,884 (GRCm39) |
M196I |
probably benign |
Het |
| Gm17078 |
C |
T |
14: 51,846,342 (GRCm39) |
V120M |
probably damaging |
Het |
| Gm5157 |
G |
A |
7: 20,918,685 (GRCm39) |
S286F |
probably damaging |
Het |
| Gm6337 |
C |
T |
14: 6,055,308 (GRCm38) |
C187Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,736,759 (GRCm39) |
D2002G |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,228,675 (GRCm39) |
N1160S |
probably damaging |
Het |
| Gulo |
A |
G |
14: 66,235,040 (GRCm39) |
V227A |
probably benign |
Het |
| Hlcs |
G |
A |
16: 94,032,085 (GRCm39) |
A31V |
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,391,980 (GRCm39) |
S361P |
probably benign |
Het |
| Ifi44 |
G |
A |
3: 151,454,946 (GRCm39) |
P93L |
probably benign |
Het |
| Izumo2 |
T |
A |
7: 44,362,470 (GRCm39) |
M78K |
probably benign |
Het |
| Lin54 |
T |
C |
5: 100,594,530 (GRCm39) |
E545G |
probably damaging |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Matr3 |
T |
G |
18: 35,705,640 (GRCm39) |
S188R |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,642 (GRCm39) |
H1120L |
|
Het |
| Myef2l |
A |
T |
3: 10,153,406 (GRCm39) |
L58F |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,474,802 (GRCm39) |
|
probably benign |
Het |
| Nlrp3 |
G |
A |
11: 59,455,870 (GRCm39) |
V889M |
probably benign |
Het |
| Or1x6 |
A |
G |
11: 50,939,455 (GRCm39) |
I174V |
probably benign |
Het |
| Or2r2 |
A |
G |
6: 42,463,212 (GRCm39) |
M305T |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,528 (GRCm39) |
I215V |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,543 (GRCm39) |
M120L |
probably benign |
Het |
| Or8d4 |
T |
A |
9: 40,038,480 (GRCm39) |
Y259F |
probably damaging |
Het |
| P4hb |
A |
T |
11: 120,458,828 (GRCm39) |
D182E |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,338,620 (GRCm39) |
T926A |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,129 (GRCm39) |
S1078P |
probably benign |
Het |
| Pramel7 |
G |
A |
2: 87,321,612 (GRCm39) |
T141I |
probably benign |
Het |
| Prepl |
A |
T |
17: 85,376,354 (GRCm39) |
C567S |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,370,615 (GRCm39) |
M114K |
probably damaging |
Het |
| Ptk2b |
A |
C |
14: 66,407,685 (GRCm39) |
|
probably null |
Het |
| Rest |
T |
C |
5: 77,430,715 (GRCm39) |
F1045L |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,260,284 (GRCm39) |
C254R |
probably damaging |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACTGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
A |
3: 95,263,483 (GRCm39) |
M8L |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,646,956 (GRCm39) |
S536P |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,404,040 (GRCm39) |
L511P |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,326,755 (GRCm39) |
H234L |
probably benign |
Het |
| Slc35e2 |
G |
T |
4: 155,694,542 (GRCm39) |
G30W |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,357 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,899,875 (GRCm39) |
T486A |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,237,126 (GRCm39) |
Y235C |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,784,908 (GRCm39) |
|
probably null |
Het |
| Spata21 |
T |
C |
4: 140,832,216 (GRCm39) |
L459P |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,452 (GRCm39) |
I706M |
probably damaging |
Het |
| Tcp11 |
T |
A |
17: 28,299,204 (GRCm39) |
E17V |
probably damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,299 (GRCm39) |
D23G |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,156 (GRCm39) |
S98P |
possibly damaging |
Het |
| Tmem35b |
A |
G |
4: 127,021,673 (GRCm39) |
D56G |
probably damaging |
Het |
| Tnr |
G |
C |
1: 159,685,867 (GRCm39) |
G366A |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,230,358 (GRCm39) |
S852G |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,596,938 (GRCm39) |
L19992F |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,505 (GRCm39) |
M909K |
probably benign |
Het |
| Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
| Wif1 |
A |
G |
10: 120,935,684 (GRCm39) |
H333R |
probably benign |
Het |
| Zfp119a |
A |
G |
17: 56,172,551 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,277 (GRCm39) |
P420L |
probably benign |
Het |
| Zfp608 |
C |
T |
18: 55,033,301 (GRCm39) |
D411N |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp74 |
A |
G |
7: 29,634,772 (GRCm39) |
V312A |
possibly damaging |
Het |
|
| Other mutations in Plcl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Plcl2
|
APN |
17 |
50,913,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01746:Plcl2
|
APN |
17 |
50,914,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02227:Plcl2
|
APN |
17 |
50,913,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02232:Plcl2
|
APN |
17 |
50,913,669 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02878:Plcl2
|
APN |
17 |
50,914,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02985:Plcl2
|
APN |
17 |
50,994,842 (GRCm39) |
nonsense |
probably null |
|
|
acerbic
|
UTSW |
17 |
50,915,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Balsamic
|
UTSW |
17 |
50,914,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bastante
|
UTSW |
17 |
50,913,389 (GRCm39) |
nonsense |
probably null |
|
|
italietta
|
UTSW |
17 |
50,915,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Oxalic
|
UTSW |
17 |
50,915,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Parece
|
UTSW |
17 |
50,914,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
picolinic
|
UTSW |
17 |
50,975,188 (GRCm39) |
splice site |
probably null |
|
|
ranch
|
UTSW |
17 |
50,816,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
verdad
|
UTSW |
17 |
50,915,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
vinagrette
|
UTSW |
17 |
50,913,884 (GRCm39) |
nonsense |
probably null |
|
|
BB007:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
|
BB017:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
|
IGL03014:Plcl2
|
UTSW |
17 |
50,918,029 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0110:Plcl2
|
UTSW |
17 |
50,915,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Plcl2
|
UTSW |
17 |
50,914,671 (GRCm39) |
missense |
probably benign |
|
|
R0280:Plcl2
|
UTSW |
17 |
50,914,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Plcl2
|
UTSW |
17 |
50,914,983 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0450:Plcl2
|
UTSW |
17 |
50,915,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Plcl2
|
UTSW |
17 |
50,915,802 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1134:Plcl2
|
UTSW |
17 |
50,915,138 (GRCm39) |
missense |
probably benign |
|
|
R1168:Plcl2
|
UTSW |
17 |
50,914,100 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1381:Plcl2
|
UTSW |
17 |
50,914,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1748:Plcl2
|
UTSW |
17 |
50,913,826 (GRCm39) |
missense |
probably benign |
|
|
R1856:Plcl2
|
UTSW |
17 |
50,914,878 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1958:Plcl2
|
UTSW |
17 |
50,915,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Plcl2
|
UTSW |
17 |
50,913,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Plcl2
|
UTSW |
17 |
50,975,139 (GRCm39) |
splice site |
probably null |
|
|
R2077:Plcl2
|
UTSW |
17 |
50,913,857 (GRCm39) |
missense |
probably benign |
|
|
R2247:Plcl2
|
UTSW |
17 |
50,913,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3083:Plcl2
|
UTSW |
17 |
50,994,772 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4153:Plcl2
|
UTSW |
17 |
50,913,389 (GRCm39) |
nonsense |
probably null |
|
|
R4574:Plcl2
|
UTSW |
17 |
50,914,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4870:Plcl2
|
UTSW |
17 |
50,914,254 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5030:Plcl2
|
UTSW |
17 |
50,914,347 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5330:Plcl2
|
UTSW |
17 |
50,816,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5331:Plcl2
|
UTSW |
17 |
50,816,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Plcl2
|
UTSW |
17 |
50,816,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5920:Plcl2
|
UTSW |
17 |
50,915,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6238:Plcl2
|
UTSW |
17 |
50,913,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6378:Plcl2
|
UTSW |
17 |
50,975,188 (GRCm39) |
splice site |
probably null |
|
|
R6603:Plcl2
|
UTSW |
17 |
50,914,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6633:Plcl2
|
UTSW |
17 |
50,947,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7113:Plcl2
|
UTSW |
17 |
50,913,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Plcl2
|
UTSW |
17 |
50,915,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Plcl2
|
UTSW |
17 |
50,914,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7930:Plcl2
|
UTSW |
17 |
50,913,831 (GRCm39) |
missense |
probably benign |
|
|
R8114:Plcl2
|
UTSW |
17 |
50,994,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8152:Plcl2
|
UTSW |
17 |
50,914,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Plcl2
|
UTSW |
17 |
50,915,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Plcl2
|
UTSW |
17 |
50,913,884 (GRCm39) |
nonsense |
probably null |
|
|
R8911:Plcl2
|
UTSW |
17 |
50,915,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Plcl2
|
UTSW |
17 |
50,947,145 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9127:Plcl2
|
UTSW |
17 |
50,918,032 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9253:Plcl2
|
UTSW |
17 |
50,915,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Plcl2
|
UTSW |
17 |
50,915,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Plcl2
|
UTSW |
17 |
50,913,953 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9630:Plcl2
|
UTSW |
17 |
50,947,147 (GRCm39) |
missense |
probably benign |
|
|
X0026:Plcl2
|
UTSW |
17 |
50,914,588 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Plcl2
|
UTSW |
17 |
50,914,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Plcl2
|
UTSW |
17 |
50,915,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGTCCACGTGGCTATTAC -3'
(R):5'- CAAGACCAGTTTATTCTAGTGCGC -3'
Sequencing Primer
(F):5'- GTCCACGTGGCTATTACTAACAGG -3'
(R):5'- TAGTGCGCAATCAGTATGCC -3'
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| Posted On |
2021-08-31 |
Incidental Mutation