Incidental Mutation 'R8750:Plcb1'
| ID |
663747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
068593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 135335449 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 567
(M567R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070724
AA Change: M567R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: M567R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
2.2e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1.3e-7 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
997 |
1155 |
1.9e-64 |
PFAM |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110116
AA Change: M567R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: M567R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
4.1e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1.1e-9 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
1003 |
1176 |
2.9e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131552
AA Change: M567R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: M567R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
3.9e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1e-9 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
1003 |
1148 |
8e-51 |
PFAM |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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 many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,560,473 (GRCm38) |
Q172* |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,702,890 (GRCm38) |
|
probably null |
Het |
| Avpr1b |
C |
T |
1: 131,599,936 (GRCm38) |
R66C |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,607,595 (GRCm38) |
C152S |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 84,559,155 (GRCm38) |
R810S |
probably damaging |
Het |
| Ccdc17 |
G |
A |
4: 116,599,932 (GRCm38) |
A538T |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,443,160 (GRCm38) |
M89V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 44,305,899 (GRCm38) |
D157E |
probably benign |
Het |
| Crtam |
A |
C |
9: 40,984,345 (GRCm38) |
D228E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,312,784 (GRCm38) |
I331V |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,029,638 (GRCm38) |
I211V |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 39,119,441 (GRCm38) |
S123P |
probably damaging |
Het |
| Dctn1 |
T |
G |
6: 83,183,126 (GRCm38) |
V116G |
possibly damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,611,186 (GRCm38) |
A130T |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,304,967 (GRCm38) |
L700Q |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,308,834 (GRCm38) |
T159A |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 119,141,936 (GRCm38) |
S670L |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,575,012 (GRCm38) |
I57F |
possibly damaging |
Het |
| Dzip3 |
A |
C |
16: 48,980,975 (GRCm38) |
I62S |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,421,950 (GRCm38) |
S202T |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,373,243 (GRCm38) |
C517* |
probably null |
Het |
| Galnt16 |
G |
A |
12: 80,598,105 (GRCm38) |
V501I |
probably benign |
Het |
| Gmip |
A |
T |
8: 69,820,484 (GRCm38) |
R840S |
probably benign |
Het |
| Gna14 |
A |
C |
19: 16,608,094 (GRCm38) |
I279L |
|
Het |
| Irak2 |
T |
C |
6: 113,686,822 (GRCm38) |
M444T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,412,792 (GRCm38) |
|
probably null |
Het |
| Kif5a |
T |
A |
10: 127,248,040 (GRCm38) |
H94L |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,493,217 (GRCm38) |
T636A |
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,405,278 (GRCm38) |
S152P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,315,067 (GRCm38) |
M25L |
probably benign |
Het |
| Map7d1 |
T |
C |
4: 126,238,522 (GRCm38) |
N286D |
probably benign |
Het |
| Mfrp |
A |
G |
9: 44,103,505 (GRCm38) |
K280E |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,261,714 (GRCm38) |
L1100I |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,482,030 (GRCm38) |
I347V |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,874,428 (GRCm38) |
C11* |
probably null |
Het |
| Mx1 |
T |
C |
16: 97,451,717 (GRCm38) |
E401G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,167,257 (GRCm38) |
D367G |
probably benign |
Het |
| Nherf2 |
T |
C |
17: 24,642,259 (GRCm38) |
I176V |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,639,852 (GRCm38) |
D96V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,409,780 (GRCm38) |
V138A |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,457,048 (GRCm38) |
I246R |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,769,963 (GRCm38) |
L54H |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,706,087 (GRCm38) |
D109V |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 80,039,590 (GRCm38) |
I17T |
probably benign |
Het |
| Pot1b |
T |
C |
17: 55,666,537 (GRCm38) |
D421G |
probably benign |
Het |
| Prkar1b |
A |
T |
5: 139,050,696 (GRCm38) |
W224R |
probably damaging |
Het |
| Psmd1 |
C |
A |
1: 86,088,863 (GRCm38) |
R490S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,177,825 (GRCm38) |
W521R |
probably damaging |
Het |
| Rhpn2 |
C |
A |
7: 35,376,255 (GRCm38) |
Q286K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,509,618 (GRCm38) |
M411K |
probably benign |
Het |
| Scpep1 |
A |
C |
11: 88,944,472 (GRCm38) |
V125G |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,151,810 (GRCm38) |
V248M |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,120,563 (GRCm38) |
N282I |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,867,688 (GRCm38) |
D159V |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,467,508 (GRCm38) |
V230A |
unknown |
Het |
| Ssu2 |
T |
A |
6: 112,382,351 (GRCm38) |
I103F |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,931,816 (GRCm38) |
F453I |
probably damaging |
Het |
| Tac2 |
C |
T |
10: 127,728,450 (GRCm38) |
P72L |
possibly damaging |
Het |
| Tiparp |
T |
G |
3: 65,552,704 (GRCm38) |
S473R |
probably damaging |
Het |
| Tmem135 |
C |
T |
7: 89,307,248 (GRCm38) |
R53Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,922,095 (GRCm38) |
F109I |
probably damaging |
Het |
| Tmem245 |
A |
T |
4: 56,886,141 (GRCm38) |
I825N |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,056,532 (GRCm38) |
V27F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,015,037 (GRCm38) |
I415M |
probably damaging |
Het |
| Tut4 |
C |
G |
4: 108,550,743 (GRCm38) |
A1403G |
probably damaging |
Het |
| Wfdc2 |
T |
A |
2: 164,565,898 (GRCm38) |
N162K |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,997,927 (GRCm38) |
I373F |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,895,379 (GRCm38) |
N387S |
possibly damaging |
Het |
| Zfp760 |
A |
T |
17: 21,722,375 (GRCm38) |
H177L |
possibly damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,346 (GRCm38) |
S148P |
possibly damaging |
Het |
| Zic2 |
A |
G |
14: 122,476,717 (GRCm38) |
N348D |
probably benign |
Het |
| Zswim4 |
A |
T |
8: 84,212,684 (GRCm38) |
D856E |
possibly damaging |
Het |
|
| Other mutations in Plcb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Plcb1
|
APN |
2 |
135,251,756 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01152:Plcb1
|
APN |
2 |
134,813,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01945:Plcb1
|
APN |
2 |
135,220,791 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01999:Plcb1
|
APN |
2 |
135,346,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02109:Plcb1
|
APN |
2 |
134,786,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plcb1
|
APN |
2 |
135,387,853 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02207:Plcb1
|
APN |
2 |
135,387,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02566:Plcb1
|
APN |
2 |
135,472,263 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02590:Plcb1
|
APN |
2 |
135,294,864 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02640:Plcb1
|
APN |
2 |
135,220,859 (GRCm38) |
splice site |
probably benign |
|
|
IGL02926:Plcb1
|
APN |
2 |
135,364,762 (GRCm38) |
splice site |
probably benign |
|
|
IGL03071:Plcb1
|
APN |
2 |
135,387,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03236:Plcb1
|
APN |
2 |
135,346,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03252:Plcb1
|
APN |
2 |
135,370,428 (GRCm38) |
missense |
probably benign |
|
|
IGL03387:Plcb1
|
APN |
2 |
134,813,686 (GRCm38) |
splice site |
probably benign |
|
|
BB001:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB011:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0024:Plcb1
|
UTSW |
2 |
135,362,425 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0024:Plcb1
|
UTSW |
2 |
135,362,425 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0053:Plcb1
|
UTSW |
2 |
135,294,915 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0053:Plcb1
|
UTSW |
2 |
135,294,915 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0308:Plcb1
|
UTSW |
2 |
134,813,614 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0415:Plcb1
|
UTSW |
2 |
135,337,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Plcb1
|
UTSW |
2 |
135,294,911 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0898:Plcb1
|
UTSW |
2 |
135,387,143 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1071:Plcb1
|
UTSW |
2 |
135,325,657 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1615:Plcb1
|
UTSW |
2 |
135,362,444 (GRCm38) |
splice site |
probably benign |
|
|
R1617:Plcb1
|
UTSW |
2 |
135,337,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1785:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R1866:Plcb1
|
UTSW |
2 |
135,344,173 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Plcb1
|
UTSW |
2 |
135,311,014 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1902:Plcb1
|
UTSW |
2 |
134,813,613 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1938:Plcb1
|
UTSW |
2 |
135,386,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2016:Plcb1
|
UTSW |
2 |
135,362,420 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2017:Plcb1
|
UTSW |
2 |
135,362,420 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2131:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2132:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2133:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2164:Plcb1
|
UTSW |
2 |
135,346,330 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2419:Plcb1
|
UTSW |
2 |
135,262,100 (GRCm38) |
splice site |
probably benign |
|
|
R2429:Plcb1
|
UTSW |
2 |
135,337,442 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2508:Plcb1
|
UTSW |
2 |
135,260,508 (GRCm38) |
missense |
probably benign |
0.27 |
|
R3161:Plcb1
|
UTSW |
2 |
135,335,482 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3870:Plcb1
|
UTSW |
2 |
135,325,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4191:Plcb1
|
UTSW |
2 |
135,345,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4239:Plcb1
|
UTSW |
2 |
135,344,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4552:Plcb1
|
UTSW |
2 |
135,335,493 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4553:Plcb1
|
UTSW |
2 |
135,335,493 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4720:Plcb1
|
UTSW |
2 |
135,251,747 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4946:Plcb1
|
UTSW |
2 |
135,345,095 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5012:Plcb1
|
UTSW |
2 |
135,333,400 (GRCm38) |
missense |
probably null |
0.97 |
|
R5151:Plcb1
|
UTSW |
2 |
135,262,245 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5320:Plcb1
|
UTSW |
2 |
135,252,776 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5415:Plcb1
|
UTSW |
2 |
135,347,402 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5523:Plcb1
|
UTSW |
2 |
135,260,566 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5568:Plcb1
|
UTSW |
2 |
135,370,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5688:Plcb1
|
UTSW |
2 |
135,335,480 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5809:Plcb1
|
UTSW |
2 |
135,262,244 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6237:Plcb1
|
UTSW |
2 |
135,370,566 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6315:Plcb1
|
UTSW |
2 |
135,346,341 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6478:Plcb1
|
UTSW |
2 |
135,335,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6531:Plcb1
|
UTSW |
2 |
135,325,802 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6683:Plcb1
|
UTSW |
2 |
134,786,593 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6760:Plcb1
|
UTSW |
2 |
135,472,060 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6947:Plcb1
|
UTSW |
2 |
135,386,155 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6976:Plcb1
|
UTSW |
2 |
135,262,239 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7379:Plcb1
|
UTSW |
2 |
135,370,510 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7473:Plcb1
|
UTSW |
2 |
135,344,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7492:Plcb1
|
UTSW |
2 |
135,251,764 (GRCm38) |
nonsense |
probably null |
|
|
R7498:Plcb1
|
UTSW |
2 |
135,262,234 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7498:Plcb1
|
UTSW |
2 |
135,262,233 (GRCm38) |
nonsense |
probably null |
|
|
R7777:Plcb1
|
UTSW |
2 |
135,220,757 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7924:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8061:Plcb1
|
UTSW |
2 |
135,346,396 (GRCm38) |
missense |
probably benign |
|
|
R8099:Plcb1
|
UTSW |
2 |
135,251,734 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8299:Plcb1
|
UTSW |
2 |
135,335,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8394:Plcb1
|
UTSW |
2 |
135,317,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8439:Plcb1
|
UTSW |
2 |
135,250,052 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8549:Plcb1
|
UTSW |
2 |
135,364,933 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8693:Plcb1
|
UTSW |
2 |
135,252,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8817:Plcb1
|
UTSW |
2 |
135,333,509 (GRCm38) |
intron |
probably benign |
|
|
R8950:Plcb1
|
UTSW |
2 |
135,337,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9146:Plcb1
|
UTSW |
2 |
135,340,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9301:Plcb1
|
UTSW |
2 |
135,325,690 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9311:Plcb1
|
UTSW |
2 |
135,347,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9459:Plcb1
|
UTSW |
2 |
135,322,638 (GRCm38) |
missense |
probably benign |
0.03 |
|
S24628:Plcb1
|
UTSW |
2 |
135,337,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Plcb1
|
UTSW |
2 |
135,345,054 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1088:Plcb1
|
UTSW |
2 |
135,220,846 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTTCTCACCCTAGCTATG -3'
(R):5'- TTGTGACACCTGAGACTTGG -3'
Sequencing Primer
(F):5'- CCCTAGCTATGAATACTTGAAGAGG -3'
(R):5'- GACACCTGAGACTTGGGCTATATTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation