Incidental Mutation 'R0346:Plekhg5'
| ID |
34254 |
| 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 |
038553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R0346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152156955-152199857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152198710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 966
(L966P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025706]
[ENSMUST00000035275]
[ENSMUST00000084115]
[ENSMUST00000105661]
[ENSMUST00000105662]
[ENSMUST00000118648]
|
| AlphaFold |
Q66T02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025706
|
| SMART Domains |
Protein: ENSMUSP00000025706
Gene: ENSMUSG00000024793
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
TNFR
|
38 |
75 |
4.12e0 |
SMART |
|
TNFR
|
78 |
120 |
3.78e-5 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
DEATH
|
315 |
407 |
6.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035275
|
| SMART Domains |
Protein: ENSMUSP00000047823
Gene: ENSMUSG00000024793
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
TNFR
|
51 |
88 |
4.12e0 |
SMART |
|
TNFR
|
91 |
133 |
3.78e-5 |
SMART |
|
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
|
DEATH
|
291 |
383 |
6.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084115
AA Change: L966P
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081132
Gene: ENSMUSG00000039713
AA Change: L966P
| 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: L966P
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101286
Gene: ENSMUSG00000039713
AA Change: L966P
| 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: L934P
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101287
Gene: ENSMUSG00000039713
AA Change: L934P
| 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: L953P
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112707
Gene: ENSMUSG00000039713
AA Change: L953P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140085
|
| Meta Mutation Damage Score |
0.0979 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (79/79) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
| Alas1 |
A |
T |
9: 106,120,550 (GRCm39) |
S82T |
possibly damaging |
Het |
| Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
| Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
| Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
| Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
| Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
| Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
| Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
| Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
| Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
| Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
| Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,292,392 (GRCm39) |
L16Q |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
| Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
| Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
| Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
| Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
| Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
| Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,493,270 (GRCm39) |
T704S |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
| Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
| Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
| Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
| Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
| Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
| Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
| Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
| Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
| Smcr8 |
A |
G |
11: 60,670,576 (GRCm39) |
I575V |
probably benign |
Het |
| Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
| Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
| Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,731,520 (GRCm39) |
N464D |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
probably benign |
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 |
|
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 |
|
|
R6770:Plekhg5
|
UTSW |
4 |
152,187,536 (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'- AAGACTTTGTGGCTCCACACCC -3'
(R):5'- TCCCAGAAGGCATCTCTCTGCATC -3'
Sequencing Primer
(F):5'- CGCCTGTGCCTCAGACC -3'
(R):5'- CATCTCCTTCGGGCAGAATC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation