Incidental Mutation 'R5563:Rhpn2'
| ID |
436701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhpn2
|
| Ensembl Gene |
ENSMUSG00000030494 |
| Gene Name |
rhophilin, Rho GTPase binding protein 2 |
| Synonyms |
D7Ertd784e, 1300002E07Rik |
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R5563 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35033605-35091712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35070652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 194
(L194H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032705]
[ENSMUST00000085556]
|
| AlphaFold |
Q8BWR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032705
AA Change: L194H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: L194H
| 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 damaging
Transcript: ENSMUST00000085556
AA Change: L194H
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: L194H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Actn3 |
T |
C |
19: 4,922,344 (GRCm39) |
H101R |
probably damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Aldh5a1 |
C |
A |
13: 25,102,609 (GRCm39) |
A285S |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mfsd4b2 |
C |
T |
10: 39,798,038 (GRCm39) |
E106K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
C |
4: 86,580,341 (GRCm39) |
K140R |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,199,437 (GRCm39) |
E179G |
probably damaging |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
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 |
|
IGL01833:Rhpn2
|
APN |
7 |
35,075,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTCATGATACCCACGGC -3'
(R):5'- AAAAGGCCTCTTTTCTATGGCTC -3'
Sequencing Primer
(F):5'- GGCAAAGCATCTATCTCTTCGAGTG -3'
(R):5'- CATTTGTTCTGAGAAACTACCGCCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation