Incidental Mutation 'R4302:Rhpn2'
| ID |
322455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhpn2
|
| Ensembl Gene |
ENSMUSG00000030494 |
| Gene Name |
rhophilin, Rho GTPase binding protein 2 |
| Synonyms |
D7Ertd784e, 1300002E07Rik |
| MMRRC Submission |
041089-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R4302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35033605-35091712 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35090270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 631
(T631A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032704]
[ENSMUST00000032705]
[ENSMUST00000085556]
[ENSMUST00000154597]
|
| AlphaFold |
Q8BWR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032704
|
| SMART Domains |
Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_2
|
162 |
219 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032705
AA Change: T631A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494
AA Change: T631A
| 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: T631A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494
AA Change: T631A
| 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: ENSMUST00000141001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154597
|
| SMART Domains |
Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HHH_2
|
162 |
219 |
2.3e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,929,645 (GRCm39) |
Q217* |
probably null |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,823,664 (GRCm39) |
I183V |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,077,880 (GRCm39) |
S2941T |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Hcfc1 |
A |
G |
X: 72,992,972 (GRCm39) |
S1398P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,226,171 (GRCm39) |
I2501V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,019 (GRCm39) |
D1664G |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,456 (GRCm39) |
T179S |
probably damaging |
Het |
| Ncf4 |
T |
C |
15: 78,144,962 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,824,341 (GRCm39) |
S154P |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,484,875 (GRCm39) |
S50P |
probably benign |
Het |
| Or11j4 |
T |
C |
14: 50,630,903 (GRCm39) |
I230T |
probably benign |
Het |
| Or12d16-ps1 |
T |
A |
17: 37,706,377 (GRCm39) |
N315K |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,295 (GRCm39) |
T29A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rps11 |
T |
C |
7: 44,772,368 (GRCm39) |
M80V |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,097,031 (GRCm39) |
Y104H |
probably benign |
Het |
| Sgsm3 |
T |
A |
15: 80,894,502 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,365,154 (GRCm39) |
L162F |
probably benign |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Stk24 |
A |
G |
14: 121,529,494 (GRCm39) |
L386S |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,412,730 (GRCm39) |
N307K |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,702 (GRCm39) |
V6D |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,562 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
A |
16: 21,314,664 (GRCm39) |
L158Q |
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 |
|
|
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'- CCATCCTGGGTCTCAGATTTG -3'
(R):5'- GTTGGAGAACAGTCCCATCG -3'
Sequencing Primer
(F):5'- GGGTCTCAGATTTGCCCATC -3'
(R):5'- GGCTCCTCCCTTCAGTACAGAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation