Incidental Mutation 'R2114:Rpgrip1'
ID |
232964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1
|
Ensembl Gene |
ENSMUSG00000057132 |
Gene Name |
retinitis pigmentosa GTPase regulator interacting protein 1 |
Synonyms |
A930002K18Rik, 4930505G06Rik, nmf247, 4930401L23Rik |
MMRRC Submission |
040118-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R2114 (G1)
|
Quality Score |
166 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
52348161-52401003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52387024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 781
(E781V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111600]
[ENSMUST00000111603]
[ENSMUST00000180646]
[ENSMUST00000181017]
[ENSMUST00000181401]
|
AlphaFold |
Q9EPQ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111600
AA Change: E781V
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107227 Gene: ENSMUSG00000057132 AA Change: E781V
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
542 |
N/A |
INTRINSIC |
C2
|
602 |
707 |
1.08e-2 |
SMART |
coiled coil region
|
746 |
795 |
N/A |
INTRINSIC |
Blast:C2
|
958 |
1086 |
1e-37 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000111603
AA Change: E985V
|
SMART Domains |
Protein: ENSMUSP00000107230 Gene: ENSMUSG00000057132 AA Change: E985V
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
543 |
N/A |
INTRINSIC |
Pfam:C2-C2_1
|
582 |
721 |
1.9e-49 |
PFAM |
C2
|
764 |
869 |
7.3e-5 |
SMART |
coiled coil region
|
910 |
999 |
N/A |
INTRINSIC |
Blast:C2
|
1162 |
1290 |
2e-37 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180646
|
SMART Domains |
Protein: ENSMUSP00000137751 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180901
|
SMART Domains |
Protein: ENSMUSP00000137826 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
coiled coil region
|
179 |
223 |
N/A |
INTRINSIC |
coiled coil region
|
274 |
363 |
N/A |
INTRINSIC |
Blast:C2
|
526 |
654 |
2e-38 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000181017
AA Change: E17V
|
SMART Domains |
Protein: ENSMUSP00000137900 Gene: ENSMUSG00000057132 AA Change: E17V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
Blast:C2
|
126 |
254 |
2e-41 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000181401
AA Change: E974V
|
SMART Domains |
Protein: ENSMUSP00000138027 Gene: ENSMUSG00000057132 AA Change: E974V
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
coiled coil region
|
248 |
348 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
547 |
N/A |
INTRINSIC |
Pfam:DUF3250
|
605 |
710 |
2.8e-46 |
PFAM |
C2
|
753 |
858 |
1.08e-2 |
SMART |
coiled coil region
|
899 |
988 |
N/A |
INTRINSIC |
Blast:C2
|
1151 |
1279 |
1e-37 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181297
|
SMART Domains |
Protein: ENSMUSP00000137653 Gene: ENSMUSG00000057132
Domain | Start | End | E-Value | Type |
coiled coil region
|
180 |
224 |
N/A |
INTRINSIC |
low complexity region
|
257 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181208
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181627
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
G |
2: 154,889,649 (GRCm39) |
R72G |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,412,411 (GRCm39) |
|
probably null |
Het |
Akr1b7 |
G |
A |
6: 34,395,929 (GRCm39) |
A144T |
possibly damaging |
Het |
Anapc5 |
C |
T |
5: 122,926,001 (GRCm39) |
V685I |
probably benign |
Het |
Apba3 |
T |
C |
10: 81,108,946 (GRCm39) |
Y570H |
probably damaging |
Het |
Arf5 |
C |
T |
6: 28,424,783 (GRCm39) |
Q71* |
probably null |
Het |
Arl15 |
C |
T |
13: 114,104,196 (GRCm39) |
S111F |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,890,571 (GRCm39) |
L817F |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Blvra |
G |
T |
2: 126,927,989 (GRCm39) |
E80* |
probably null |
Het |
Bmp10 |
A |
C |
6: 87,411,441 (GRCm39) |
E411D |
probably benign |
Het |
Ccdc148 |
T |
C |
2: 58,892,128 (GRCm39) |
E188G |
probably damaging |
Het |
Ces1a |
A |
G |
8: 93,766,179 (GRCm39) |
L145P |
possibly damaging |
Het |
Chsy3 |
G |
A |
18: 59,312,561 (GRCm39) |
V345I |
probably damaging |
Het |
Ckmt2 |
T |
A |
13: 92,003,964 (GRCm39) |
I345F |
probably benign |
Het |
Col5a2 |
T |
A |
1: 45,415,964 (GRCm39) |
E1394D |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,121,018 (GRCm39) |
N1492S |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,870,743 (GRCm39) |
N557S |
probably benign |
Het |
Edem2 |
G |
A |
2: 155,544,479 (GRCm39) |
R424C |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,324,760 (GRCm39) |
N351K |
possibly damaging |
Het |
Eya1 |
A |
T |
1: 14,340,998 (GRCm39) |
F163I |
probably damaging |
Het |
Ezh1 |
A |
C |
11: 101,099,011 (GRCm39) |
S290A |
probably benign |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fam83h |
A |
T |
15: 75,874,146 (GRCm39) |
Y1064N |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,035,633 (GRCm39) |
H3095L |
probably benign |
Het |
Fbxo38 |
A |
C |
18: 62,639,711 (GRCm39) |
I1051S |
possibly damaging |
Het |
Galnt6 |
G |
C |
15: 100,612,122 (GRCm39) |
C173W |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,105,362 (GRCm39) |
C99* |
probably null |
Het |
Gcn1 |
A |
T |
5: 115,736,884 (GRCm39) |
M1276L |
probably benign |
Het |
Gm266 |
T |
G |
12: 111,452,116 (GRCm39) |
Q30P |
possibly damaging |
Het |
Gsdma |
A |
T |
11: 98,563,838 (GRCm39) |
E264V |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,515,496 (GRCm39) |
T138A |
probably benign |
Het |
Ikzf1 |
T |
G |
11: 11,719,473 (GRCm39) |
H480Q |
probably damaging |
Het |
Ints14 |
T |
G |
9: 64,887,077 (GRCm39) |
L336R |
probably damaging |
Het |
Irak1 |
G |
T |
X: 73,066,218 (GRCm39) |
P197Q |
possibly damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,322 (GRCm39) |
V189A |
possibly damaging |
Het |
Kcnh4 |
A |
G |
11: 100,650,421 (GRCm39) |
M4T |
probably damaging |
Het |
Kif4 |
A |
G |
X: 99,709,323 (GRCm39) |
S315G |
probably benign |
Het |
L3mbtl1 |
T |
A |
2: 162,801,990 (GRCm39) |
|
probably null |
Het |
Lrwd1 |
T |
A |
5: 136,159,332 (GRCm39) |
Y431F |
probably damaging |
Het |
Madd |
A |
G |
2: 90,994,367 (GRCm39) |
V884A |
probably damaging |
Het |
Maz |
C |
A |
7: 126,624,677 (GRCm39) |
C281F |
probably damaging |
Het |
Mb |
G |
T |
15: 76,906,759 (GRCm39) |
Q9K |
probably benign |
Het |
Mllt10 |
A |
G |
2: 18,167,380 (GRCm39) |
N435S |
probably benign |
Het |
Mrm3 |
T |
C |
11: 76,135,347 (GRCm39) |
M186T |
possibly damaging |
Het |
Naprt |
T |
C |
15: 75,763,637 (GRCm39) |
Y395C |
probably damaging |
Het |
Nccrp1 |
T |
A |
7: 28,246,334 (GRCm39) |
Q76L |
probably benign |
Het |
Nlgn1 |
T |
A |
3: 26,187,414 (GRCm39) |
N157I |
probably damaging |
Het |
Nmi |
T |
C |
2: 51,838,719 (GRCm39) |
T272A |
probably benign |
Het |
Obscn |
C |
T |
11: 59,022,484 (GRCm39) |
V754M |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,569,265 (GRCm39) |
E137G |
probably damaging |
Het |
Pdk2 |
A |
G |
11: 94,918,088 (GRCm39) |
Y382H |
probably damaging |
Het |
Phka1 |
C |
T |
X: 101,653,807 (GRCm39) |
R290H |
probably damaging |
Het |
Pick1 |
T |
A |
15: 79,139,781 (GRCm39) |
|
probably benign |
Het |
Pik3r2 |
T |
C |
8: 71,222,029 (GRCm39) |
I585V |
probably benign |
Het |
Pitrm1 |
A |
T |
13: 6,607,809 (GRCm39) |
Y268F |
probably damaging |
Het |
Polr2b |
G |
A |
5: 77,468,817 (GRCm39) |
E198K |
probably damaging |
Het |
Prelid3b |
T |
C |
2: 174,311,243 (GRCm39) |
N9D |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,256,937 (GRCm39) |
N1216K |
probably damaging |
Het |
Prkab2 |
A |
T |
3: 97,574,711 (GRCm39) |
M236L |
possibly damaging |
Het |
Prkar2b |
T |
A |
12: 32,017,279 (GRCm39) |
N257I |
probably damaging |
Het |
Prkcd |
A |
G |
14: 30,327,808 (GRCm39) |
C208R |
probably damaging |
Het |
Prkch |
T |
A |
12: 73,749,290 (GRCm39) |
S347T |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,695,506 (GRCm39) |
V1320A |
unknown |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Ptpra |
G |
T |
2: 130,381,655 (GRCm39) |
R372L |
probably damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,187 (GRCm39) |
I236N |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,833,134 (GRCm39) |
|
probably null |
Het |
Rgr |
T |
A |
14: 36,760,809 (GRCm39) |
|
probably null |
Het |
Rgs7 |
T |
A |
1: 174,918,639 (GRCm39) |
N235I |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,693,295 (GRCm39) |
M629L |
probably benign |
Het |
Rrh |
T |
C |
3: 129,604,336 (GRCm39) |
I288M |
probably damaging |
Het |
Rtf1 |
T |
A |
2: 119,535,999 (GRCm39) |
H184Q |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,999,014 (GRCm39) |
D256G |
probably benign |
Het |
Scap |
T |
C |
9: 110,210,341 (GRCm39) |
Y917H |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,314,396 (GRCm39) |
E1774G |
probably damaging |
Het |
Sec11c |
A |
T |
18: 65,933,720 (GRCm39) |
T9S |
probably benign |
Het |
Slc24a2 |
C |
T |
4: 86,909,592 (GRCm39) |
V664I |
probably benign |
Het |
Stim2 |
A |
G |
5: 54,261,819 (GRCm39) |
Q237R |
probably damaging |
Het |
Synpo2 |
T |
A |
3: 122,873,537 (GRCm39) |
H1143L |
probably benign |
Het |
Syt4 |
A |
G |
18: 31,573,520 (GRCm39) |
Y332H |
probably damaging |
Het |
Tcf23 |
G |
A |
5: 31,130,919 (GRCm39) |
D186N |
probably benign |
Het |
Tcf3 |
C |
A |
10: 80,246,040 (GRCm39) |
G628W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,965,857 (GRCm39) |
E415G |
possibly damaging |
Het |
Tlr5 |
T |
C |
1: 182,803,194 (GRCm39) |
W833R |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,699,615 (GRCm39) |
E92G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,577,352 (GRCm39) |
S24514T |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,382,484 (GRCm39) |
E587G |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,156,922 (GRCm39) |
K2316* |
probably null |
Het |
Usp20 |
T |
A |
2: 30,906,317 (GRCm39) |
C562S |
probably damaging |
Het |
Vat1 |
A |
T |
11: 101,356,568 (GRCm39) |
V131E |
probably damaging |
Het |
Vgll1 |
A |
C |
X: 56,137,790 (GRCm39) |
K53T |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,819 (GRCm39) |
C170S |
unknown |
Het |
Zfp592 |
G |
A |
7: 80,674,544 (GRCm39) |
V503M |
probably damaging |
Het |
Zfp786 |
A |
G |
6: 47,803,931 (GRCm39) |
V37A |
probably damaging |
Het |
Zscan30 |
A |
G |
18: 24,104,173 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Rpgrip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Rpgrip1
|
APN |
14 |
52,387,895 (GRCm39) |
splice site |
probably null |
|
IGL01016:Rpgrip1
|
APN |
14 |
52,383,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Rpgrip1
|
APN |
14 |
52,368,633 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01382:Rpgrip1
|
APN |
14 |
52,382,934 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01433:Rpgrip1
|
APN |
14 |
52,363,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01528:Rpgrip1
|
APN |
14 |
52,349,634 (GRCm39) |
nonsense |
probably null |
|
IGL01548:Rpgrip1
|
APN |
14 |
52,363,728 (GRCm39) |
splice site |
probably benign |
|
IGL01652:Rpgrip1
|
APN |
14 |
52,382,949 (GRCm39) |
unclassified |
probably benign |
|
IGL02040:Rpgrip1
|
APN |
14 |
52,358,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02113:Rpgrip1
|
APN |
14 |
52,371,301 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02121:Rpgrip1
|
APN |
14 |
52,384,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02185:Rpgrip1
|
APN |
14 |
52,349,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02234:Rpgrip1
|
APN |
14 |
52,368,766 (GRCm39) |
splice site |
probably benign |
|
IGL02322:Rpgrip1
|
APN |
14 |
52,387,499 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02379:Rpgrip1
|
APN |
14 |
52,376,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02524:Rpgrip1
|
APN |
14 |
52,358,511 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02836:Rpgrip1
|
APN |
14 |
52,382,714 (GRCm39) |
splice site |
probably null |
|
IGL03264:Rpgrip1
|
APN |
14 |
52,378,109 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03410:Rpgrip1
|
APN |
14 |
52,395,823 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,387,001 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Rpgrip1
|
UTSW |
14 |
52,386,851 (GRCm39) |
utr 3 prime |
probably benign |
|
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0045:Rpgrip1
|
UTSW |
14 |
52,378,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0089:Rpgrip1
|
UTSW |
14 |
52,386,841 (GRCm39) |
utr 3 prime |
probably benign |
|
R0498:Rpgrip1
|
UTSW |
14 |
52,368,771 (GRCm39) |
splice site |
probably benign |
|
R0602:Rpgrip1
|
UTSW |
14 |
52,371,313 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0776:Rpgrip1
|
UTSW |
14 |
52,378,626 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1139:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
R1528:Rpgrip1
|
UTSW |
14 |
52,349,681 (GRCm39) |
missense |
probably benign |
0.01 |
R1715:Rpgrip1
|
UTSW |
14 |
52,378,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1934:Rpgrip1
|
UTSW |
14 |
52,352,101 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2087:Rpgrip1
|
UTSW |
14 |
52,374,079 (GRCm39) |
splice site |
probably null |
|
R3406:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3835:Rpgrip1
|
UTSW |
14 |
52,384,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4084:Rpgrip1
|
UTSW |
14 |
52,386,808 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4124:Rpgrip1
|
UTSW |
14 |
52,389,781 (GRCm39) |
splice site |
probably null |
|
R4381:Rpgrip1
|
UTSW |
14 |
52,387,906 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4407:Rpgrip1
|
UTSW |
14 |
52,384,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4520:Rpgrip1
|
UTSW |
14 |
52,389,746 (GRCm39) |
missense |
probably benign |
0.08 |
R4904:Rpgrip1
|
UTSW |
14 |
52,358,544 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4904:Rpgrip1
|
UTSW |
14 |
52,397,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R5284:Rpgrip1
|
UTSW |
14 |
52,386,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:Rpgrip1
|
UTSW |
14 |
52,382,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5377:Rpgrip1
|
UTSW |
14 |
52,397,652 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5499:Rpgrip1
|
UTSW |
14 |
52,378,042 (GRCm39) |
missense |
probably benign |
0.00 |
R5729:Rpgrip1
|
UTSW |
14 |
52,397,617 (GRCm39) |
missense |
probably benign |
0.28 |
R5834:Rpgrip1
|
UTSW |
14 |
52,395,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R6157:Rpgrip1
|
UTSW |
14 |
52,349,631 (GRCm39) |
missense |
probably benign |
0.00 |
R6455:Rpgrip1
|
UTSW |
14 |
52,378,646 (GRCm39) |
missense |
probably damaging |
0.97 |
R6796:Rpgrip1
|
UTSW |
14 |
52,387,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Rpgrip1
|
UTSW |
14 |
52,378,650 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7173:Rpgrip1
|
UTSW |
14 |
52,349,633 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7302:Rpgrip1
|
UTSW |
14 |
52,387,012 (GRCm39) |
missense |
unknown |
|
R7315:Rpgrip1
|
UTSW |
14 |
52,358,458 (GRCm39) |
missense |
not run |
|
R7320:Rpgrip1
|
UTSW |
14 |
52,368,673 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7344:Rpgrip1
|
UTSW |
14 |
52,378,116 (GRCm39) |
missense |
probably damaging |
0.98 |
R7459:Rpgrip1
|
UTSW |
14 |
52,378,016 (GRCm39) |
missense |
probably benign |
0.18 |
R7797:Rpgrip1
|
UTSW |
14 |
52,371,277 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7852:Rpgrip1
|
UTSW |
14 |
52,383,337 (GRCm39) |
missense |
probably benign |
0.01 |
R7916:Rpgrip1
|
UTSW |
14 |
52,368,641 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7990:Rpgrip1
|
UTSW |
14 |
52,366,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8041:Rpgrip1
|
UTSW |
14 |
52,356,702 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8344:Rpgrip1
|
UTSW |
14 |
52,387,819 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8403:Rpgrip1
|
UTSW |
14 |
52,389,658 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8559:Rpgrip1
|
UTSW |
14 |
52,386,714 (GRCm39) |
missense |
unknown |
|
R8679:Rpgrip1
|
UTSW |
14 |
52,396,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8817:Rpgrip1
|
UTSW |
14 |
52,378,056 (GRCm39) |
missense |
probably benign |
0.33 |
R8890:Rpgrip1
|
UTSW |
14 |
52,382,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9197:Rpgrip1
|
UTSW |
14 |
52,382,857 (GRCm39) |
missense |
possibly damaging |
0.51 |
RF028:Rpgrip1
|
UTSW |
14 |
52,386,855 (GRCm39) |
nonsense |
probably null |
|
RF034:Rpgrip1
|
UTSW |
14 |
52,386,983 (GRCm39) |
utr 3 prime |
probably benign |
|
RF035:Rpgrip1
|
UTSW |
14 |
52,386,850 (GRCm39) |
utr 3 prime |
probably benign |
|
RF036:Rpgrip1
|
UTSW |
14 |
52,386,998 (GRCm39) |
frame shift |
probably null |
|
RF040:Rpgrip1
|
UTSW |
14 |
52,386,994 (GRCm39) |
frame shift |
probably null |
|
RF043:Rpgrip1
|
UTSW |
14 |
52,386,852 (GRCm39) |
utr 3 prime |
probably benign |
|
X0024:Rpgrip1
|
UTSW |
14 |
52,378,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0026:Rpgrip1
|
UTSW |
14 |
52,384,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCAGAAGCTGAGAAGCCG -3'
(R):5'- GTTATTCACACTACCCACAGAAGG -3'
Sequencing Primer
(F):5'- CGGAGGGTGAAGAGAAGGAG -3'
(R):5'- GGAATTTCCTCTATTCCATCCCTGAG -3'
|
Posted On |
2014-09-18 |