Incidental Mutation 'R6471:Plcg1'
| ID |
516690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcg1
|
| Ensembl Gene |
ENSMUSG00000016933 |
| Gene Name |
phospholipase C, gamma 1 |
| Synonyms |
Plc-1, Cded, Plcg-1, Plc-gamma1 |
| MMRRC Submission |
044604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160573230-160617680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160595630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 526
(D526G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103115]
[ENSMUST00000109462]
[ENSMUST00000151590]
|
| AlphaFold |
Q62077 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000017077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103115
AA Change: D526G
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
AA Change: D526G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
144 |
5.54e-7 |
SMART |
|
PLCXc
|
320 |
464 |
3.7e-91 |
SMART |
|
PH
|
489 |
680 |
2.99e1 |
SMART |
|
SH2
|
548 |
645 |
1.12e-30 |
SMART |
|
SH2
|
666 |
747 |
3.78e-28 |
SMART |
|
SH3
|
794 |
850 |
6.49e-16 |
SMART |
|
PH
|
804 |
933 |
8.93e-2 |
SMART |
|
PLCYc
|
953 |
1070 |
3.23e-73 |
SMART |
|
C2
|
1089 |
1192 |
1.37e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109462
AA Change: D526G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105088
Gene: ENSMUSG00000016933
AA Change: D526G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
144 |
5.54e-7 |
SMART |
|
Pfam:EF-hand_like
|
240 |
318 |
5.2e-8 |
PFAM |
|
PLCXc
|
320 |
464 |
3.7e-91 |
SMART |
|
PH
|
489 |
680 |
2.99e1 |
SMART |
|
SH2
|
548 |
645 |
1.12e-30 |
SMART |
|
SH2
|
666 |
747 |
3.78e-28 |
SMART |
|
SH3
|
794 |
850 |
6.49e-16 |
SMART |
|
PH
|
804 |
933 |
8.93e-2 |
SMART |
|
PLCYc
|
953 |
1070 |
3.23e-73 |
SMART |
|
C2
|
1089 |
1192 |
1.37e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151590
|
| SMART Domains |
Protein: ENSMUSP00000133771
Gene: ENSMUSG00000016933
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
144 |
5.54e-7 |
SMART |
|
Pfam:EF-hand_like
|
239 |
318 |
4.4e-8 |
PFAM |
|
PLCXc
|
320 |
464 |
3.7e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173061
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
| Validation Efficiency |
97% (29/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with arrested growth and/or abnormal hematopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
| Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
| Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
| Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
| Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
| Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
| Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
| Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
| Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
probably damaging |
Het |
|
| Other mutations in Plcg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Plcg1
|
APN |
2 |
160,599,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00885:Plcg1
|
APN |
2 |
160,600,003 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01066:Plcg1
|
APN |
2 |
160,596,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01356:Plcg1
|
APN |
2 |
160,595,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01629:Plcg1
|
APN |
2 |
160,599,930 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01732:Plcg1
|
APN |
2 |
160,589,699 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01754:Plcg1
|
APN |
2 |
160,603,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02195:Plcg1
|
APN |
2 |
160,595,846 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02371:Plcg1
|
APN |
2 |
160,595,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02671:Plcg1
|
APN |
2 |
160,597,672 (GRCm39) |
nonsense |
probably null |
|
|
IGL03096:Plcg1
|
APN |
2 |
160,599,126 (GRCm39) |
splice site |
probably benign |
|
|
IGL03129:Plcg1
|
APN |
2 |
160,616,446 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03139:Plcg1
|
APN |
2 |
160,590,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03211:Plcg1
|
APN |
2 |
160,601,611 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
suscepit
|
UTSW |
2 |
160,595,522 (GRCm39) |
splice site |
probably null |
|
|
IGL03047:Plcg1
|
UTSW |
2 |
160,596,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Plcg1
|
UTSW |
2 |
160,573,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Plcg1
|
UTSW |
2 |
160,594,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Plcg1
|
UTSW |
2 |
160,603,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Plcg1
|
UTSW |
2 |
160,595,283 (GRCm39) |
splice site |
probably benign |
|
|
R0679:Plcg1
|
UTSW |
2 |
160,598,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Plcg1
|
UTSW |
2 |
160,593,698 (GRCm39) |
splice site |
probably null |
|
|
R1719:Plcg1
|
UTSW |
2 |
160,595,663 (GRCm39) |
missense |
probably null |
0.94 |
|
R1721:Plcg1
|
UTSW |
2 |
160,573,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Plcg1
|
UTSW |
2 |
160,590,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1978:Plcg1
|
UTSW |
2 |
160,594,498 (GRCm39) |
splice site |
probably null |
|
|
R2277:Plcg1
|
UTSW |
2 |
160,597,725 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2698:Plcg1
|
UTSW |
2 |
160,603,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3832:Plcg1
|
UTSW |
2 |
160,596,357 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4094:Plcg1
|
UTSW |
2 |
160,589,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4260:Plcg1
|
UTSW |
2 |
160,593,627 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4622:Plcg1
|
UTSW |
2 |
160,589,688 (GRCm39) |
splice site |
probably benign |
|
|
R4837:Plcg1
|
UTSW |
2 |
160,592,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4942:Plcg1
|
UTSW |
2 |
160,595,509 (GRCm39) |
splice site |
probably null |
|
|
R5514:Plcg1
|
UTSW |
2 |
160,595,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5647:Plcg1
|
UTSW |
2 |
160,593,588 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5929:Plcg1
|
UTSW |
2 |
160,595,522 (GRCm39) |
splice site |
probably null |
|
|
R6303:Plcg1
|
UTSW |
2 |
160,603,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6304:Plcg1
|
UTSW |
2 |
160,603,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6500:Plcg1
|
UTSW |
2 |
160,596,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Plcg1
|
UTSW |
2 |
160,600,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Plcg1
|
UTSW |
2 |
160,590,203 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7137:Plcg1
|
UTSW |
2 |
160,595,846 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7155:Plcg1
|
UTSW |
2 |
160,596,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Plcg1
|
UTSW |
2 |
160,573,794 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7777:Plcg1
|
UTSW |
2 |
160,596,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7918:Plcg1
|
UTSW |
2 |
160,595,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Plcg1
|
UTSW |
2 |
160,616,498 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8309:Plcg1
|
UTSW |
2 |
160,595,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8344:Plcg1
|
UTSW |
2 |
160,589,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Plcg1
|
UTSW |
2 |
160,596,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Plcg1
|
UTSW |
2 |
160,603,387 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8708:Plcg1
|
UTSW |
2 |
160,596,473 (GRCm39) |
splice site |
probably benign |
|
|
R8831:Plcg1
|
UTSW |
2 |
160,589,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8936:Plcg1
|
UTSW |
2 |
160,589,986 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9414:Plcg1
|
UTSW |
2 |
160,603,276 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9466:Plcg1
|
UTSW |
2 |
160,596,520 (GRCm39) |
missense |
probably benign |
|
|
R9608:Plcg1
|
UTSW |
2 |
160,597,671 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9755:Plcg1
|
UTSW |
2 |
160,573,780 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1176:Plcg1
|
UTSW |
2 |
160,600,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTGGAGGACCCCGTGAATC -3'
(R):5'- AGTCTCTATGCAGTACTCAGTGAG -3'
Sequencing Primer
(F):5'- ACCCCGTGAATCATGTGAG -3'
(R):5'- TATGCAGTACTCAGTGAGCAGGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation