Incidental Mutation 'R1659:Rhpn2'
| ID |
186590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhpn2
|
| Ensembl Gene |
ENSMUSG00000030494 |
| Gene Name |
rhophilin, Rho GTPase binding protein 2 |
| Synonyms |
D7Ertd784e, 1300002E07Rik |
| MMRRC Submission |
039695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R1659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35033605-35091712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35076466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 339
(Y339C)
|
| 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: Y339C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: Y339C
| 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: Y339C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: Y339C
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,060,420 (GRCm39) |
P568T |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,885,027 (GRCm39) |
L538P |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
| Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
| Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
| Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
| Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
| Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
| Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
| Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
| Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
| Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
| Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
| Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
| Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,005,574 (GRCm39) |
D938G |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
| Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
| Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,938,790 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
| Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,047 (GRCm39) |
L216P |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTTGCTTGGCTTTATGCCC -3'
(R):5'- TGCTTTTGTGGTACGCACACGC -3'
Sequencing Primer
(F):5'- CTGGAACATTCTCCAGCAGG -3'
(R):5'- GTACGCACACGCCCAAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation