Incidental Mutation 'IGL01833:Rhpn2'
| ID |
154844 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhpn2
|
| Ensembl Gene |
ENSMUSG00000030494 |
| Gene Name |
rhophilin, Rho GTPase binding protein 2 |
| Synonyms |
D7Ertd784e, 1300002E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
IGL01833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35033605-35091712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35075596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 258
(Y258N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032705]
[ENSMUST00000085556]
|
| AlphaFold |
Q8BWR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032705
AA Change: Y258N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: Y258N
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
38 |
101 |
2.42e-12 |
SMART |
|
BRO1
|
111 |
513 |
1.27e-167 |
SMART |
|
PDZ
|
524 |
594 |
1.73e-9 |
SMART |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085556
AA Change: Y258N
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: Y258N
| Domain | Start | End | E-Value | Type |
|---|
|
Hr1
|
38 |
101 |
2.42e-12 |
SMART |
|
BRO1
|
111 |
513 |
1.27e-167 |
SMART |
|
PDZ
|
524 |
594 |
1.73e-9 |
SMART |
|
low complexity region
|
623 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155140
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
| Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
| Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
| Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
| Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
| Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
| Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
| Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
| Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
| Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
| Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
| Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
| Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
| Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
| Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
| Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
| Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
| Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
probably damaging |
Het |
|
| Other mutations in Rhpn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Rhpn2
|
APN |
7 |
35,070,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01718:Rhpn2
|
APN |
7 |
35,070,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02134:Rhpn2
|
APN |
7 |
35,070,536 (GRCm39) |
splice site |
probably benign |
|
|
IGL02725:Rhpn2
|
APN |
7 |
35,079,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4382001:Rhpn2
|
UTSW |
7 |
35,090,178 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0433:Rhpn2
|
UTSW |
7 |
35,084,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1659:Rhpn2
|
UTSW |
7 |
35,076,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Rhpn2
|
UTSW |
7 |
35,071,813 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2110:Rhpn2
|
UTSW |
7 |
35,076,433 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2567:Rhpn2
|
UTSW |
7 |
35,080,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4302:Rhpn2
|
UTSW |
7 |
35,090,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4717:Rhpn2
|
UTSW |
7 |
35,033,775 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4832:Rhpn2
|
UTSW |
7 |
35,075,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4890:Rhpn2
|
UTSW |
7 |
35,090,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5119:Rhpn2
|
UTSW |
7 |
35,070,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Rhpn2
|
UTSW |
7 |
35,080,990 (GRCm39) |
intron |
probably benign |
|
|
R5563:Rhpn2
|
UTSW |
7 |
35,070,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5578:Rhpn2
|
UTSW |
7 |
35,070,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Rhpn2
|
UTSW |
7 |
35,075,636 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6405:Rhpn2
|
UTSW |
7 |
35,071,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6700:Rhpn2
|
UTSW |
7 |
35,075,594 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6776:Rhpn2
|
UTSW |
7 |
35,083,194 (GRCm39) |
splice site |
probably null |
|
|
R7326:Rhpn2
|
UTSW |
7 |
35,084,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7342:Rhpn2
|
UTSW |
7 |
35,033,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Rhpn2
|
UTSW |
7 |
35,070,669 (GRCm39) |
splice site |
probably null |
|
|
R7849:Rhpn2
|
UTSW |
7 |
35,080,912 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8750:Rhpn2
|
UTSW |
7 |
35,075,680 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8822:Rhpn2
|
UTSW |
7 |
35,090,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8989:Rhpn2
|
UTSW |
7 |
35,053,446 (GRCm39) |
intron |
probably benign |
|
|
R9076:Rhpn2
|
UTSW |
7 |
35,083,473 (GRCm39) |
splice site |
probably benign |
|
|
R9308:Rhpn2
|
UTSW |
7 |
35,033,805 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Rhpn2
|
UTSW |
7 |
35,033,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Rhpn2
|
UTSW |
7 |
35,033,798 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Rhpn2
|
UTSW |
7 |
35,084,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Rhpn2
|
UTSW |
7 |
35,084,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation