Incidental Mutation 'R6770:Plekhg5'
| ID |
532119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg5
|
| Ensembl Gene |
ENSMUSG00000039713 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 5 |
| Synonyms |
|
| MMRRC Submission |
044886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6770 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152156955-152199857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152187536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 101
(T101A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084115]
[ENSMUST00000105661]
[ENSMUST00000105662]
[ENSMUST00000118648]
|
| AlphaFold |
Q66T02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084115
AA Change: T114A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
314 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
RhoGEF
|
410 |
597 |
5.21e-53 |
SMART |
|
PH
|
655 |
756 |
7.35e-12 |
SMART |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105661
AA Change: T114A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
314 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
RhoGEF
|
410 |
597 |
5.21e-53 |
SMART |
|
PH
|
655 |
756 |
7.35e-12 |
SMART |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105662
AA Change: T82A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
282 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
|
RhoGEF
|
378 |
565 |
5.21e-53 |
SMART |
|
PH
|
623 |
724 |
7.35e-12 |
SMART |
|
low complexity region
|
746 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
902 |
N/A |
INTRINSIC |
|
low complexity region
|
1028 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118648
AA Change: T101A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: T101A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
301 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
367 |
N/A |
INTRINSIC |
|
RhoGEF
|
397 |
584 |
5.21e-53 |
SMART |
|
PH
|
642 |
743 |
7.35e-12 |
SMART |
|
low complexity region
|
765 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1047 |
1056 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein belonging to the Rho guanine exchange factor (GEF) family of proteins, which activate GTPases by replacing GDP with GTP. This family member is a RhoA GEF that plays a role in endothelial cell migration and tube formation. It is required for angiogenesis and may function in neuronal cell differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display angiogenic defects that affect multiple organs, including sparser coronary and kidney arterial systems that appear to deficient in small diameter vessels while the major coronary and kidney arteries remain intact. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
A |
G |
14: 21,284,982 (GRCm39) |
K102E |
probably damaging |
Het |
| Bach2 |
G |
A |
4: 32,575,240 (GRCm39) |
V489I |
possibly damaging |
Het |
| Bin1 |
A |
G |
18: 32,539,202 (GRCm39) |
E45G |
probably damaging |
Het |
| Btnl4 |
A |
G |
17: 34,693,011 (GRCm39) |
Y135H |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,066,392 (GRCm39) |
|
probably null |
Het |
| Cdh10 |
A |
G |
15: 18,985,308 (GRCm39) |
D324G |
probably benign |
Het |
| Cfi |
T |
C |
3: 129,652,379 (GRCm39) |
S269P |
probably benign |
Het |
| Ctbp1 |
G |
A |
5: 33,408,204 (GRCm39) |
Q243* |
probably null |
Het |
| Dnajc1 |
G |
T |
2: 18,222,082 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo39 |
T |
G |
11: 72,208,622 (GRCm39) |
S325A |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,198,726 (GRCm39) |
S140P |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,111,153 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,967 (GRCm39) |
S551G |
possibly damaging |
Het |
| Ina |
C |
T |
19: 47,003,366 (GRCm39) |
|
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,643,475 (GRCm39) |
V103A |
possibly damaging |
Het |
| Ldb2 |
T |
A |
5: 44,826,738 (GRCm39) |
T66S |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,327,648 (GRCm39) |
A1499V |
probably benign |
Het |
| Nde1 |
G |
A |
16: 14,006,242 (GRCm39) |
V96I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,370,969 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,344,607 (GRCm39) |
N435K |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,934,862 (GRCm39) |
D5256G |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,804 (GRCm39) |
T133A |
probably benign |
Het |
| Or4a75 |
A |
G |
2: 89,448,206 (GRCm39) |
V110A |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,725 (GRCm39) |
I272N |
probably damaging |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,479 (GRCm39) |
F153L |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,744,837 (GRCm39) |
M865K |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,993 (GRCm39) |
E374G |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,764,568 (GRCm39) |
L542H |
probably damaging |
Het |
| Ppic |
A |
T |
18: 53,544,657 (GRCm39) |
V51E |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,564,970 (GRCm39) |
V186M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,753,348 (GRCm39) |
T1658S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,559,528 (GRCm39) |
|
probably null |
Het |
| Siva1 |
G |
A |
12: 112,614,358 (GRCm39) |
C73Y |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,685,226 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,492,059 (GRCm39) |
I683V |
unknown |
Het |
| Srgap2 |
A |
T |
1: 131,226,248 (GRCm39) |
C22S |
probably benign |
Het |
| Stxbp1 |
C |
T |
2: 32,709,901 (GRCm39) |
R64H |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,473,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,345 (GRCm39) |
I261V |
probably benign |
Het |
| Trav14-2 |
A |
C |
14: 53,878,629 (GRCm39) |
H76P |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,434,006 (GRCm39) |
S2316P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,216,493 (GRCm39) |
I5141T |
unknown |
Het |
| Usp46 |
A |
G |
5: 74,193,015 (GRCm39) |
V87A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,508,445 (GRCm39) |
N612S |
probably damaging |
Het |
|
| Other mutations in Plekhg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Plekhg5
|
APN |
4 |
152,186,498 (GRCm39) |
splice site |
probably null |
|
|
IGL01025:Plekhg5
|
APN |
4 |
152,192,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01062:Plekhg5
|
APN |
4 |
152,192,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Plekhg5
|
APN |
4 |
152,191,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01301:Plekhg5
|
APN |
4 |
152,197,010 (GRCm39) |
missense |
probably benign |
|
|
IGL02372:Plekhg5
|
APN |
4 |
152,186,537 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02701:Plekhg5
|
APN |
4 |
152,187,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU18:Plekhg5
|
UTSW |
4 |
152,197,010 (GRCm39) |
missense |
probably benign |
|
|
R0005:Plekhg5
|
UTSW |
4 |
152,197,108 (GRCm39) |
small deletion |
probably benign |
|
|
R0012:Plekhg5
|
UTSW |
4 |
152,189,207 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0050:Plekhg5
|
UTSW |
4 |
152,192,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0233:Plekhg5
|
UTSW |
4 |
152,196,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Plekhg5
|
UTSW |
4 |
152,196,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Plekhg5
|
UTSW |
4 |
152,196,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Plekhg5
|
UTSW |
4 |
152,198,710 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0555:Plekhg5
|
UTSW |
4 |
152,191,926 (GRCm39) |
nonsense |
probably null |
|
|
R0631:Plekhg5
|
UTSW |
4 |
152,196,876 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0639:Plekhg5
|
UTSW |
4 |
152,198,577 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1372:Plekhg5
|
UTSW |
4 |
152,189,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1563:Plekhg5
|
UTSW |
4 |
152,181,266 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2870:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2871:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2871:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2872:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2872:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2873:Plekhg5
|
UTSW |
4 |
152,191,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3104:Plekhg5
|
UTSW |
4 |
152,196,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Plekhg5
|
UTSW |
4 |
152,196,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3408:Plekhg5
|
UTSW |
4 |
152,192,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Plekhg5
|
UTSW |
4 |
152,196,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5157:Plekhg5
|
UTSW |
4 |
152,192,322 (GRCm39) |
splice site |
probably benign |
|
|
R5643:Plekhg5
|
UTSW |
4 |
152,188,797 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5644:Plekhg5
|
UTSW |
4 |
152,188,797 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5790:Plekhg5
|
UTSW |
4 |
152,198,392 (GRCm39) |
missense |
probably benign |
|
|
R7027:Plekhg5
|
UTSW |
4 |
152,198,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7039:Plekhg5
|
UTSW |
4 |
152,192,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7092:Plekhg5
|
UTSW |
4 |
152,198,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Plekhg5
|
UTSW |
4 |
152,196,985 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7319:Plekhg5
|
UTSW |
4 |
152,192,885 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7439:Plekhg5
|
UTSW |
4 |
152,198,392 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7543:Plekhg5
|
UTSW |
4 |
152,192,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Plekhg5
|
UTSW |
4 |
152,188,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Plekhg5
|
UTSW |
4 |
152,187,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Plekhg5
|
UTSW |
4 |
152,189,201 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8827:Plekhg5
|
UTSW |
4 |
152,191,462 (GRCm39) |
splice site |
probably benign |
|
|
R8987:Plekhg5
|
UTSW |
4 |
152,188,372 (GRCm39) |
intron |
probably benign |
|
|
R9024:Plekhg5
|
UTSW |
4 |
152,197,118 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9428:Plekhg5
|
UTSW |
4 |
152,192,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9515:Plekhg5
|
UTSW |
4 |
152,198,826 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9672:Plekhg5
|
UTSW |
4 |
152,187,541 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATTCTTGGCAGAAGAGAAGG -3'
(R):5'- GACTGGAGTCGCACACAATG -3'
Sequencing Primer
(F):5'- GGATACCCTGGAACTGTGTCTC -3'
(R):5'- CTGGAGTCGCACACAATGGTTAAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation