Incidental Mutation 'IGL02480:Rho'
| ID |
295150 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rho
|
| Ensembl Gene |
ENSMUSG00000030324 |
| Gene Name |
rhodopsin |
| Synonyms |
opsin 2, Noerg1, Rod Opsin, Long Wavelength Sensitive opsin, LWS opsin, L opsin, Red Opsin, Ops, RP4, Opn2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115908709-115916997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115912505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 123
(N123S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032471]
[ENSMUST00000203877]
[ENSMUST00000204493]
[ENSMUST00000204711]
|
| AlphaFold |
P15409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032471
AA Change: N282S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
AA Change: N282S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rhodopsin_N
|
2 |
37 |
1e-23 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
40 |
323 |
1.2e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srw
|
42 |
324 |
7.9e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
48 |
321 |
4.9e-11 |
PFAM |
|
Pfam:7tm_1
|
54 |
306 |
5.1e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203877
AA Change: N123S
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324
AA Change: N123S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
6 |
147 |
1.6e-17 |
PFAM |
|
Pfam:7TM_GPCR_Srw
|
19 |
165 |
1.2e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
25 |
162 |
1.2e-4 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
29 |
164 |
7.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204493
|
| SMART Domains |
Protein: ENSMUSP00000145464
Gene: ENSMUSG00000030324
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204711
AA Change: N140S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324
AA Change: N140S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
164 |
4.1e-24 |
PFAM |
|
Pfam:7TM_GPCR_Srw
|
11 |
182 |
5.4e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srv
|
13 |
181 |
1.6e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null homozygotes fail to develop retinal rod outer segments and lose their photoreceptors while heterozygotes exhibit some disorganization of their photoreceptors and a shortening of the outer segments with age. Some point mutants have only light-induced photoreceptor degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
| Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Rho |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02432:Rho
|
APN |
6 |
115,909,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02625:Rho
|
APN |
6 |
115,912,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
bemr3
|
UTSW |
6 |
115,912,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Rho
|
UTSW |
6 |
115,909,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Rho
|
UTSW |
6 |
115,912,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1169:Rho
|
UTSW |
6 |
115,909,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Rho
|
UTSW |
6 |
115,912,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2393:Rho
|
UTSW |
6 |
115,912,352 (GRCm39) |
splice site |
probably benign |
|
|
R3895:Rho
|
UTSW |
6 |
115,910,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Rho
|
UTSW |
6 |
115,912,191 (GRCm39) |
missense |
probably benign |
|
|
R4416:Rho
|
UTSW |
6 |
115,912,191 (GRCm39) |
missense |
probably benign |
|
|
R5753:Rho
|
UTSW |
6 |
115,912,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6483:Rho
|
UTSW |
6 |
115,909,218 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6552:Rho
|
UTSW |
6 |
115,908,709 (GRCm39) |
splice site |
probably null |
|
|
R6719:Rho
|
UTSW |
6 |
115,910,854 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7030:Rho
|
UTSW |
6 |
115,912,504 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7354:Rho
|
UTSW |
6 |
115,912,464 (GRCm39) |
nonsense |
probably null |
|
|
R7566:Rho
|
UTSW |
6 |
115,909,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Rho
|
UTSW |
6 |
115,909,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Rho
|
UTSW |
6 |
115,912,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7700:Rho
|
UTSW |
6 |
115,912,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8477:Rho
|
UTSW |
6 |
115,912,346 (GRCm39) |
splice site |
probably null |
|
|
R8745:Rho
|
UTSW |
6 |
115,912,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Rho
|
UTSW |
6 |
115,910,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation