Incidental Mutation 'R1914:Rpgrip1l'
ID |
214686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpgrip1l
|
Ensembl Gene |
ENSMUSG00000033282 |
Gene Name |
Rpgrip1-like |
Synonyms |
Nphp8, 1700047E16Rik, Ftm, fantom |
MMRRC Submission |
039932-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
91943658-92039890 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91959552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1116
(D1116G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
|
AlphaFold |
Q8CG73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047783
AA Change: D1116G
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000042702 Gene: ENSMUSG00000033282 AA Change: D1116G
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
coiled coil region
|
196 |
268 |
N/A |
INTRINSIC |
coiled coil region
|
299 |
371 |
N/A |
INTRINSIC |
coiled coil region
|
395 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
520 |
556 |
N/A |
INTRINSIC |
Pfam:C2-C2_1
|
597 |
738 |
5.8e-61 |
PFAM |
low complexity region
|
769 |
778 |
N/A |
INTRINSIC |
C2
|
791 |
896 |
1.06e-5 |
SMART |
low complexity region
|
989 |
1000 |
N/A |
INTRINSIC |
low complexity region
|
1057 |
1080 |
N/A |
INTRINSIC |
Blast:C2
|
1098 |
1223 |
3e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139113
|
SMART Domains |
Protein: ENSMUSP00000118230 Gene: ENSMUSG00000033282
Domain | Start | End | E-Value | Type |
coiled coil region
|
56 |
143 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210538
|
Meta Mutation Damage Score |
0.1274 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
99% (90/91) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016] PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,622,386 (GRCm39) |
V618E |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,103,036 (GRCm39) |
R852G |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,306,685 (GRCm39) |
R1165H |
probably benign |
Het |
Asxl1 |
T |
C |
2: 153,243,826 (GRCm39) |
S1459P |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,176,225 (GRCm39) |
R1957C |
probably damaging |
Het |
Bcar1 |
A |
G |
8: 112,442,030 (GRCm39) |
V270A |
probably damaging |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Capn15 |
C |
A |
17: 26,183,837 (GRCm39) |
A215S |
probably benign |
Het |
Casz1 |
T |
C |
4: 149,017,415 (GRCm39) |
F235L |
probably damaging |
Het |
Ccdc57 |
A |
T |
11: 120,794,134 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,159,349 (GRCm39) |
V2142A |
probably damaging |
Het |
Cdx1 |
A |
G |
18: 61,152,970 (GRCm39) |
V212A |
probably benign |
Het |
Cep104 |
T |
C |
4: 154,074,296 (GRCm39) |
L516P |
possibly damaging |
Het |
Cep95 |
C |
T |
11: 106,705,464 (GRCm39) |
T483I |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,389,329 (GRCm39) |
|
probably benign |
Het |
Chia1 |
T |
A |
3: 106,035,875 (GRCm39) |
N238K |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
Col28a1 |
A |
G |
6: 8,176,333 (GRCm39) |
F8S |
probably benign |
Het |
Cpeb3 |
C |
T |
19: 37,031,665 (GRCm39) |
R579Q |
probably damaging |
Het |
Dbh |
A |
G |
2: 27,058,234 (GRCm39) |
D134G |
probably damaging |
Het |
Diaph3 |
A |
C |
14: 86,893,921 (GRCm39) |
N29K |
probably damaging |
Het |
Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
Ephb1 |
C |
T |
9: 101,806,577 (GRCm39) |
C819Y |
probably damaging |
Het |
Eps8l2 |
G |
A |
7: 140,941,765 (GRCm39) |
V650M |
probably damaging |
Het |
Erlin1 |
T |
C |
19: 44,047,504 (GRCm39) |
Y139C |
probably damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,988 (GRCm38) |
V301E |
probably damaging |
Het |
Fnbp4 |
T |
C |
2: 90,609,537 (GRCm39) |
|
probably benign |
Het |
Gal3st4 |
T |
A |
5: 138,263,672 (GRCm39) |
K442N |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,527,152 (GRCm39) |
T199A |
probably benign |
Het |
Gm10644 |
G |
A |
8: 84,660,479 (GRCm39) |
|
probably benign |
Het |
Gpr88 |
G |
T |
3: 116,046,073 (GRCm39) |
S79R |
possibly damaging |
Het |
Grm4 |
A |
T |
17: 27,653,686 (GRCm39) |
C755S |
probably damaging |
Het |
Hdgfl2 |
A |
G |
17: 56,403,978 (GRCm39) |
D278G |
probably damaging |
Het |
Heatr5a |
G |
T |
12: 51,952,250 (GRCm39) |
A1130E |
probably damaging |
Het |
Heatr9 |
T |
G |
11: 83,409,035 (GRCm39) |
I171L |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,460,357 (GRCm39) |
T2209A |
probably benign |
Het |
Hsh2d |
A |
G |
8: 72,947,365 (GRCm39) |
T21A |
probably damaging |
Het |
Ing1 |
T |
A |
8: 11,611,577 (GRCm39) |
V63E |
probably damaging |
Het |
Irf4 |
A |
T |
13: 30,945,445 (GRCm39) |
Q397L |
probably benign |
Het |
Itgae |
T |
A |
11: 73,009,469 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,609 (GRCm39) |
D17E |
possibly damaging |
Het |
Kcnh6 |
T |
A |
11: 105,908,270 (GRCm39) |
Y295* |
probably null |
Het |
Klf5 |
T |
C |
14: 99,539,357 (GRCm39) |
S177P |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,586,221 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
A |
G |
10: 51,368,045 (GRCm39) |
I53M |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,810,007 (GRCm39) |
Y348N |
probably damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Med25 |
A |
G |
7: 44,534,046 (GRCm39) |
S245P |
probably benign |
Het |
Mlh3 |
T |
C |
12: 85,308,442 (GRCm39) |
Y1115C |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,681,034 (GRCm39) |
L1025P |
probably damaging |
Het |
Myof |
T |
A |
19: 37,966,141 (GRCm39) |
N393I |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,936 (GRCm39) |
E862D |
probably benign |
Het |
Ncald |
C |
T |
15: 37,397,324 (GRCm39) |
A119T |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,373,114 (GRCm39) |
E1044G |
possibly damaging |
Het |
Nyap2 |
T |
C |
1: 81,169,602 (GRCm39) |
S120P |
probably damaging |
Het |
Oas1a |
A |
T |
5: 121,043,876 (GRCm39) |
N85K |
possibly damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,324 (GRCm39) |
Y181C |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,578,133 (GRCm39) |
D1721E |
probably damaging |
Het |
Pcid2 |
A |
T |
8: 13,144,141 (GRCm39) |
|
probably null |
Het |
Pou2f2 |
C |
T |
7: 24,799,581 (GRCm39) |
A92T |
possibly damaging |
Het |
Ppp1r16a |
T |
C |
15: 76,577,268 (GRCm39) |
L212P |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,517,635 (GRCm39) |
L84Q |
probably damaging |
Het |
Ptgr2 |
A |
T |
12: 84,349,096 (GRCm39) |
Q145L |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,278 (GRCm39) |
N152D |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,958,646 (GRCm39) |
F62L |
possibly damaging |
Het |
Rasal3 |
G |
A |
17: 32,615,324 (GRCm39) |
Q505* |
probably null |
Het |
Rbm20 |
T |
A |
19: 53,852,518 (GRCm39) |
L1166Q |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,789,053 (GRCm39) |
I223R |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,343,518 (GRCm39) |
E270D |
probably damaging |
Het |
Rorc |
T |
C |
3: 94,298,480 (GRCm39) |
C322R |
probably damaging |
Het |
Rsph4a |
A |
T |
10: 33,789,068 (GRCm39) |
N638Y |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,396,594 (GRCm39) |
F100L |
probably damaging |
Het |
Siglece |
A |
G |
7: 43,307,219 (GRCm39) |
V256A |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,898,686 (GRCm39) |
L617Q |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,978,531 (GRCm39) |
I567T |
possibly damaging |
Het |
Sptan1 |
C |
G |
2: 29,901,048 (GRCm39) |
Q1425E |
probably benign |
Het |
Srd5a3 |
G |
A |
5: 76,295,552 (GRCm39) |
V81I |
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,706,310 (GRCm39) |
I790K |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,720,071 (GRCm39) |
Y764* |
probably null |
Het |
Tbl1xr1 |
T |
C |
3: 22,245,074 (GRCm39) |
|
probably benign |
Het |
Tmem130 |
A |
G |
5: 144,674,666 (GRCm39) |
F353S |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,835,347 (GRCm39) |
K1591N |
probably damaging |
Het |
Trim43c |
T |
A |
9: 88,722,670 (GRCm39) |
D105E |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,756,537 (GRCm39) |
T748K |
possibly damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,499,286 (GRCm39) |
N393D |
probably benign |
Het |
Zfp292 |
G |
A |
4: 34,805,100 (GRCm39) |
S2648F |
possibly damaging |
Het |
|
Other mutations in Rpgrip1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Rpgrip1l
|
APN |
8 |
91,990,202 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL00932:Rpgrip1l
|
APN |
8 |
92,002,265 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01113:Rpgrip1l
|
APN |
8 |
91,987,367 (GRCm39) |
intron |
probably benign |
|
IGL01151:Rpgrip1l
|
APN |
8 |
92,001,777 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01321:Rpgrip1l
|
APN |
8 |
91,987,501 (GRCm39) |
nonsense |
probably null |
|
IGL01384:Rpgrip1l
|
APN |
8 |
92,000,268 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01634:Rpgrip1l
|
APN |
8 |
91,979,172 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01634:Rpgrip1l
|
APN |
8 |
91,979,171 (GRCm39) |
missense |
probably benign |
|
IGL01781:Rpgrip1l
|
APN |
8 |
91,996,846 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01784:Rpgrip1l
|
APN |
8 |
91,997,089 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02034:Rpgrip1l
|
APN |
8 |
91,977,776 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02250:Rpgrip1l
|
APN |
8 |
91,959,489 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02285:Rpgrip1l
|
APN |
8 |
91,959,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02634:Rpgrip1l
|
APN |
8 |
91,951,972 (GRCm39) |
splice site |
probably benign |
|
IGL02736:Rpgrip1l
|
APN |
8 |
91,990,219 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02825:Rpgrip1l
|
APN |
8 |
92,031,433 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02962:Rpgrip1l
|
APN |
8 |
91,996,990 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03031:Rpgrip1l
|
APN |
8 |
91,987,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03184:Rpgrip1l
|
APN |
8 |
92,027,437 (GRCm39) |
missense |
probably damaging |
1.00 |
P0005:Rpgrip1l
|
UTSW |
8 |
92,025,853 (GRCm39) |
splice site |
probably benign |
|
R0118:Rpgrip1l
|
UTSW |
8 |
91,996,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:Rpgrip1l
|
UTSW |
8 |
92,026,473 (GRCm39) |
splice site |
probably benign |
|
R0599:Rpgrip1l
|
UTSW |
8 |
92,031,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Rpgrip1l
|
UTSW |
8 |
91,987,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R1648:Rpgrip1l
|
UTSW |
8 |
91,979,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Rpgrip1l
|
UTSW |
8 |
91,959,552 (GRCm39) |
missense |
probably benign |
0.13 |
R2093:Rpgrip1l
|
UTSW |
8 |
91,996,760 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2225:Rpgrip1l
|
UTSW |
8 |
91,948,095 (GRCm39) |
missense |
probably benign |
0.45 |
R2504:Rpgrip1l
|
UTSW |
8 |
92,007,344 (GRCm39) |
critical splice donor site |
probably null |
|
R3859:Rpgrip1l
|
UTSW |
8 |
91,990,286 (GRCm39) |
missense |
probably benign |
0.00 |
R4118:Rpgrip1l
|
UTSW |
8 |
91,979,535 (GRCm39) |
missense |
probably benign |
|
R4801:Rpgrip1l
|
UTSW |
8 |
91,996,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Rpgrip1l
|
UTSW |
8 |
91,996,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Rpgrip1l
|
UTSW |
8 |
91,987,637 (GRCm39) |
missense |
probably benign |
0.05 |
R4976:Rpgrip1l
|
UTSW |
8 |
92,007,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Rpgrip1l
|
UTSW |
8 |
91,948,012 (GRCm39) |
nonsense |
probably null |
|
R5099:Rpgrip1l
|
UTSW |
8 |
91,975,350 (GRCm39) |
missense |
probably benign |
0.20 |
R5119:Rpgrip1l
|
UTSW |
8 |
92,007,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5141:Rpgrip1l
|
UTSW |
8 |
91,987,546 (GRCm39) |
missense |
probably benign |
0.29 |
R5793:Rpgrip1l
|
UTSW |
8 |
91,987,400 (GRCm39) |
missense |
probably benign |
0.06 |
R5847:Rpgrip1l
|
UTSW |
8 |
92,031,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R5871:Rpgrip1l
|
UTSW |
8 |
91,948,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5916:Rpgrip1l
|
UTSW |
8 |
91,979,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6619:Rpgrip1l
|
UTSW |
8 |
91,959,499 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6654:Rpgrip1l
|
UTSW |
8 |
91,946,833 (GRCm39) |
missense |
probably benign |
0.36 |
R6956:Rpgrip1l
|
UTSW |
8 |
92,012,941 (GRCm39) |
splice site |
probably null |
|
R6984:Rpgrip1l
|
UTSW |
8 |
91,987,426 (GRCm39) |
missense |
probably benign |
0.03 |
R7064:Rpgrip1l
|
UTSW |
8 |
91,990,148 (GRCm39) |
nonsense |
probably null |
|
R7145:Rpgrip1l
|
UTSW |
8 |
91,959,434 (GRCm39) |
critical splice donor site |
probably null |
|
R7243:Rpgrip1l
|
UTSW |
8 |
91,996,751 (GRCm39) |
missense |
probably benign |
0.00 |
R7673:Rpgrip1l
|
UTSW |
8 |
92,027,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7796:Rpgrip1l
|
UTSW |
8 |
91,996,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R8684:Rpgrip1l
|
UTSW |
8 |
92,000,329 (GRCm39) |
missense |
probably benign |
0.00 |
R8769:Rpgrip1l
|
UTSW |
8 |
91,979,212 (GRCm39) |
splice site |
probably benign |
|
R8955:Rpgrip1l
|
UTSW |
8 |
92,007,456 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9006:Rpgrip1l
|
UTSW |
8 |
92,007,436 (GRCm39) |
missense |
probably benign |
|
R9085:Rpgrip1l
|
UTSW |
8 |
92,014,303 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9188:Rpgrip1l
|
UTSW |
8 |
92,031,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Rpgrip1l
|
UTSW |
8 |
91,987,614 (GRCm39) |
nonsense |
probably null |
|
R9268:Rpgrip1l
|
UTSW |
8 |
92,007,355 (GRCm39) |
missense |
probably benign |
|
R9366:Rpgrip1l
|
UTSW |
8 |
91,996,809 (GRCm39) |
nonsense |
probably null |
|
R9547:Rpgrip1l
|
UTSW |
8 |
91,977,873 (GRCm39) |
missense |
probably benign |
0.00 |
R9565:Rpgrip1l
|
UTSW |
8 |
92,031,516 (GRCm39) |
missense |
probably benign |
0.05 |
R9582:Rpgrip1l
|
UTSW |
8 |
91,996,886 (GRCm39) |
missense |
probably benign |
0.03 |
R9604:Rpgrip1l
|
UTSW |
8 |
92,031,433 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9614:Rpgrip1l
|
UTSW |
8 |
91,987,434 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9697:Rpgrip1l
|
UTSW |
8 |
91,987,391 (GRCm39) |
missense |
possibly damaging |
0.49 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,996,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,987,603 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1088:Rpgrip1l
|
UTSW |
8 |
91,946,807 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACCTTAGCTTCCTTCACAGACAG -3'
(R):5'- TGGAATGTATGGGAGCATACAC -3'
Sequencing Primer
(F):5'- TAGCTTCCTTCACAGACAGGAAAAAC -3'
(R):5'- TATGGGAGCATACACTGTGC -3'
|
Posted On |
2014-07-14 |