Incidental Mutation 'IGL02134:Rhpn2'
ID |
281250 |
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 # |
IGL02134
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35033605-35091712 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 35070536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032705]
[ENSMUST00000085556]
|
AlphaFold |
Q8BWR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032705
|
SMART Domains |
Protein: ENSMUSP00000032705 Gene: ENSMUSG00000030494
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
|
SMART Domains |
Protein: ENSMUSP00000082692 Gene: ENSMUSG00000030494
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
T |
C |
17: 42,980,581 (GRCm39) |
N168S |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,349 (GRCm39) |
R36S |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,460,214 (GRCm39) |
F514L |
probably benign |
Het |
Arhgef39 |
C |
A |
4: 43,497,578 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,275,043 (GRCm39) |
S11G |
probably damaging |
Het |
Cadm4 |
T |
C |
7: 24,198,986 (GRCm39) |
V87A |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,451,777 (GRCm39) |
I413T |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,430,230 (GRCm39) |
|
probably null |
Het |
Dera |
C |
T |
6: 137,807,269 (GRCm39) |
A239V |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,643,499 (GRCm39) |
E283G |
probably damaging |
Het |
Eml6 |
G |
T |
11: 29,709,066 (GRCm39) |
H24N |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,240 (GRCm39) |
K1425E |
possibly damaging |
Het |
Fgd3 |
G |
A |
13: 49,450,225 (GRCm39) |
S8L |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,172,369 (GRCm39) |
E228G |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,990,771 (GRCm39) |
|
probably benign |
Het |
Iqcc |
A |
G |
4: 129,512,818 (GRCm39) |
S11P |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,927,300 (GRCm39) |
Q205* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,056,171 (GRCm39) |
S530R |
possibly damaging |
Het |
Kcnq1 |
A |
G |
7: 142,737,453 (GRCm39) |
H257R |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,304,121 (GRCm39) |
V164I |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,288,763 (GRCm39) |
H603R |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,723 (GRCm39) |
|
probably null |
Het |
Lrrn2 |
A |
G |
1: 132,865,555 (GRCm39) |
M207V |
possibly damaging |
Het |
Miip |
A |
G |
4: 147,949,735 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
T |
C |
6: 146,949,808 (GRCm39) |
|
probably benign |
Het |
Nuf2 |
A |
T |
1: 169,341,069 (GRCm39) |
M184K |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,727,165 (GRCm39) |
R232S |
probably benign |
Het |
Or14j2 |
C |
T |
17: 37,886,249 (GRCm39) |
E22K |
probably benign |
Het |
Or2f2 |
A |
G |
6: 42,767,398 (GRCm39) |
T142A |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,193,172 (GRCm39) |
N200K |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,830 (GRCm39) |
I248F |
probably damaging |
Het |
Os9 |
T |
C |
10: 126,956,861 (GRCm39) |
I42V |
possibly damaging |
Het |
Rapgef4 |
A |
C |
2: 72,010,405 (GRCm39) |
Q177P |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,314,958 (GRCm39) |
R1916G |
probably damaging |
Het |
Serpine1 |
T |
A |
5: 137,095,889 (GRCm39) |
|
probably benign |
Het |
Snd1 |
C |
T |
6: 28,880,278 (GRCm39) |
P684L |
possibly damaging |
Het |
Tgds |
T |
C |
14: 118,350,534 (GRCm39) |
N340D |
probably benign |
Het |
Trpc4 |
A |
T |
3: 54,223,075 (GRCm39) |
Y706F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,584,166 (GRCm39) |
D22314V |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,519,163 (GRCm39) |
T2263I |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,115,022 (GRCm39) |
T229S |
possibly damaging |
Het |
Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,246,758 (GRCm39) |
L78P |
probably damaging |
Het |
Zfp629 |
T |
A |
7: 127,211,042 (GRCm39) |
T256S |
probably benign |
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 |
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 |
2015-04-16 |