Incidental Mutation 'R2393:Rho'
| ID |
247858 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
115908709-115916997 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 115912352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032471]
[ENSMUST00000203877]
[ENSMUST00000204493]
[ENSMUST00000204711]
|
| AlphaFold |
P15409 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032471
|
| SMART Domains |
Protein: ENSMUSP00000032471
Gene: ENSMUSG00000030324
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144952
Gene: ENSMUSG00000030324
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144768
Gene: ENSMUSG00000030324
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Il17re |
C |
T |
6: 113,439,314 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
probably benign |
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 |
|
IGL02480:Rho
|
APN |
6 |
115,912,505 (GRCm39) |
missense |
probably benign |
0.20 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTTCGTGGTCCACTTC -3'
(R):5'- CCGGGTTATAGATGGAAGAGCTC -3'
Sequencing Primer
(F):5'- GTGGTCCACTTCACCATTCCTATG -3'
(R):5'- CTCTTAGCAAAGAAAGCTGGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation