Incidental Mutation 'R5916:Rpgrip1l'
| ID |
461336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpgrip1l
|
| Ensembl Gene |
ENSMUSG00000033282 |
| Gene Name |
Rpgrip1-like |
| Synonyms |
Nphp8, fantom, Ftm, 1700047E16Rik |
| MMRRC Submission |
044113-MU
|
| Accession Numbers |
NCBI RefSeq: NM_173431.2; MGI: 1920563
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
91217030-91313262 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91252913 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 967
(R967L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047783]
[ENSMUST00000139113]
[ENSMUST00000209616]
|
| AlphaFold |
Q8CG73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047783
AA Change: R967L
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042702
Gene: ENSMUSG00000033282
AA Change: R967L
| 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 |
unknown
Transcript: ENSMUST00000209616
AA Change: R188L
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
Strain: 3716208
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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
C |
T |
6: 149,326,578 (GRCm38) |
T374I |
probably damaging |
Het |
| 4930563D23Rik |
T |
A |
16: 92,320,671 (GRCm38) |
E243V |
probably damaging |
Het |
| Aadacl4 |
A |
T |
4: 144,622,980 (GRCm38) |
N269I |
possibly damaging |
Het |
| Abcc1 |
G |
T |
16: 14,465,142 (GRCm38) |
V1161F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 24,684,539 (GRCm38) |
|
probably null |
Het |
| Agt |
A |
T |
8: 124,563,858 (GRCm38) |
S237T |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,681,836 (GRCm38) |
F674L |
probably benign |
Het |
| Asb2 |
G |
T |
12: 103,323,876 (GRCm38) |
A504E |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 69,807,098 (GRCm38) |
I1113N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,205,662 (GRCm38) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,511,463 (GRCm38) |
T95A |
probably benign |
Het |
| Ccdc173 |
A |
T |
2: 69,789,462 (GRCm38) |
M1K |
probably null |
Het |
| Clrn1 |
T |
C |
3: 58,846,362 (GRCm38) |
T193A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,504,122 (GRCm38) |
D437E |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,759,166 (GRCm38) |
A1820S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,706,918 (GRCm38) |
I233N |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 19,987,020 (GRCm38) |
N194D |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,309 (GRCm38) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,695,823 (GRCm38) |
R36S |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,321,828 (GRCm38) |
C680S |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,357,541 (GRCm38) |
L1129P |
unknown |
Het |
| Fzd3 |
G |
A |
14: 65,202,729 (GRCm38) |
T664I |
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,854,736 (GRCm38) |
I129V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,434,471 (GRCm38) |
F1950S |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,646,203 (GRCm38) |
G597E |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,396,139 (GRCm38) |
V2101D |
probably damaging |
Het |
| Il17re |
T |
A |
6: 113,470,123 (GRCm38) |
C612S |
probably damaging |
Het |
| Il1f9 |
T |
G |
2: 24,192,794 (GRCm38) |
*194E |
probably null |
Het |
| Junb |
T |
C |
8: 84,977,876 (GRCm38) |
Y185C |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,221,382 (GRCm38) |
Q186* |
probably null |
Het |
| Lrrn2 |
T |
A |
1: 132,937,800 (GRCm38) |
V201E |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,451,178 (GRCm38) |
T68S |
probably benign |
Het |
| March1 |
G |
T |
8: 66,387,111 (GRCm38) |
R182L |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,249,425 (GRCm38) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,964,312 (GRCm38) |
S2708T |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,451,733 (GRCm38) |
T396A |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,222,701 (GRCm38) |
S676A |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 174,121,544 (GRCm38) |
W456C |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 58,808,729 (GRCm38) |
M1V |
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,134,900 (GRCm38) |
*485Q |
probably null |
Het |
| Ocln |
T |
G |
13: 100,506,179 (GRCm38) |
D216A |
possibly damaging |
Het |
| Olfr108 |
C |
T |
17: 37,445,679 (GRCm38) |
L53F |
probably benign |
Het |
| Olfr1308 |
A |
G |
2: 111,960,830 (GRCm38) |
M81T |
probably damaging |
Het |
| Olfr417 |
A |
T |
1: 174,369,132 (GRCm38) |
T72S |
probably damaging |
Het |
| Olfr544 |
G |
A |
7: 102,484,379 (GRCm38) |
S247F |
probably damaging |
Het |
| Papd4 |
T |
C |
13: 93,175,547 (GRCm38) |
D215G |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,523,513 (GRCm38) |
M2243K |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,325,082 (GRCm38) |
Q190* |
probably null |
Het |
| Rfx8 |
T |
C |
1: 39,688,619 (GRCm38) |
Y182C |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,831,724 (GRCm38) |
Y423H |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 125,468,573 (GRCm38) |
Y809N |
probably damaging |
Het |
| Slc35f1 |
C |
A |
10: 52,933,221 (GRCm38) |
Y101* |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,214,608 (GRCm38) |
K12E |
possibly damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,357,691 (GRCm38) |
V646M |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,749,380 (GRCm38) |
M243K |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,691,514 (GRCm38) |
L732P |
probably damaging |
Het |
| U2af2 |
A |
T |
7: 5,079,180 (GRCm38) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,665,051 (GRCm38) |
N1877Y |
probably damaging |
Het |
| Vsir |
C |
T |
10: 60,358,037 (GRCm38) |
T93I |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,205,302 (GRCm38) |
M3K |
possibly damaging |
Het |
| Zscan29 |
G |
T |
2: 121,164,037 (GRCm38) |
T489N |
probably damaging |
Het |
|
| Other mutations in Rpgrip1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Rpgrip1l
|
APN |
8 |
91,263,574 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL00932:Rpgrip1l
|
APN |
8 |
91,275,637 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL01113:Rpgrip1l
|
APN |
8 |
91,260,739 (GRCm38) |
intron |
probably benign |
|
|
IGL01151:Rpgrip1l
|
APN |
8 |
91,275,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01321:Rpgrip1l
|
APN |
8 |
91,260,873 (GRCm38) |
nonsense |
probably null |
|
|
IGL01384:Rpgrip1l
|
APN |
8 |
91,273,640 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01634:Rpgrip1l
|
APN |
8 |
91,252,544 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL01634:Rpgrip1l
|
APN |
8 |
91,252,543 (GRCm38) |
missense |
probably benign |
|
|
IGL01781:Rpgrip1l
|
APN |
8 |
91,270,218 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01784:Rpgrip1l
|
APN |
8 |
91,270,461 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL02034:Rpgrip1l
|
APN |
8 |
91,251,148 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02250:Rpgrip1l
|
APN |
8 |
91,232,861 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02285:Rpgrip1l
|
APN |
8 |
91,232,907 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02634:Rpgrip1l
|
APN |
8 |
91,225,344 (GRCm38) |
splice site |
probably benign |
|
|
IGL02736:Rpgrip1l
|
APN |
8 |
91,263,591 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02825:Rpgrip1l
|
APN |
8 |
91,304,805 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL02962:Rpgrip1l
|
APN |
8 |
91,270,362 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03031:Rpgrip1l
|
APN |
8 |
91,260,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03184:Rpgrip1l
|
APN |
8 |
91,300,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0005:Rpgrip1l
|
UTSW |
8 |
91,299,225 (GRCm38) |
splice site |
probably benign |
|
|
R0118:Rpgrip1l
|
UTSW |
8 |
91,270,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0490:Rpgrip1l
|
UTSW |
8 |
91,299,845 (GRCm38) |
splice site |
probably benign |
|
|
R0599:Rpgrip1l
|
UTSW |
8 |
91,305,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Rpgrip1l
|
UTSW |
8 |
91,260,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1648:Rpgrip1l
|
UTSW |
8 |
91,252,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1914:Rpgrip1l
|
UTSW |
8 |
91,232,924 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1915:Rpgrip1l
|
UTSW |
8 |
91,232,924 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2093:Rpgrip1l
|
UTSW |
8 |
91,270,132 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2225:Rpgrip1l
|
UTSW |
8 |
91,221,467 (GRCm38) |
missense |
probably benign |
0.45 |
|
R2504:Rpgrip1l
|
UTSW |
8 |
91,280,716 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3859:Rpgrip1l
|
UTSW |
8 |
91,263,658 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4118:Rpgrip1l
|
UTSW |
8 |
91,252,907 (GRCm38) |
missense |
probably benign |
|
|
R4801:Rpgrip1l
|
UTSW |
8 |
91,270,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4802:Rpgrip1l
|
UTSW |
8 |
91,270,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Rpgrip1l
|
UTSW |
8 |
91,261,009 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4976:Rpgrip1l
|
UTSW |
8 |
91,280,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Rpgrip1l
|
UTSW |
8 |
91,221,384 (GRCm38) |
nonsense |
probably null |
|
|
R5099:Rpgrip1l
|
UTSW |
8 |
91,248,722 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5119:Rpgrip1l
|
UTSW |
8 |
91,280,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5141:Rpgrip1l
|
UTSW |
8 |
91,260,918 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5793:Rpgrip1l
|
UTSW |
8 |
91,260,772 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5847:Rpgrip1l
|
UTSW |
8 |
91,304,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5871:Rpgrip1l
|
UTSW |
8 |
91,221,386 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6619:Rpgrip1l
|
UTSW |
8 |
91,232,871 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6654:Rpgrip1l
|
UTSW |
8 |
91,220,205 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6956:Rpgrip1l
|
UTSW |
8 |
91,286,313 (GRCm38) |
splice site |
probably null |
|
|
R6984:Rpgrip1l
|
UTSW |
8 |
91,260,798 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7064:Rpgrip1l
|
UTSW |
8 |
91,263,520 (GRCm38) |
nonsense |
probably null |
|
|
R7145:Rpgrip1l
|
UTSW |
8 |
91,232,806 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7243:Rpgrip1l
|
UTSW |
8 |
91,270,123 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7673:Rpgrip1l
|
UTSW |
8 |
91,300,787 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7796:Rpgrip1l
|
UTSW |
8 |
91,270,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8684:Rpgrip1l
|
UTSW |
8 |
91,273,701 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8769:Rpgrip1l
|
UTSW |
8 |
91,252,584 (GRCm38) |
splice site |
probably benign |
|
|
R8955:Rpgrip1l
|
UTSW |
8 |
91,280,828 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9006:Rpgrip1l
|
UTSW |
8 |
91,280,808 (GRCm38) |
missense |
probably benign |
|
|
R9085:Rpgrip1l
|
UTSW |
8 |
91,287,675 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9188:Rpgrip1l
|
UTSW |
8 |
91,305,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9258:Rpgrip1l
|
UTSW |
8 |
91,260,986 (GRCm38) |
nonsense |
probably null |
|
|
R9268:Rpgrip1l
|
UTSW |
8 |
91,280,727 (GRCm38) |
missense |
probably benign |
|
|
R9366:Rpgrip1l
|
UTSW |
8 |
91,270,181 (GRCm38) |
nonsense |
probably null |
|
|
R9547:Rpgrip1l
|
UTSW |
8 |
91,251,245 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9565:Rpgrip1l
|
UTSW |
8 |
91,304,888 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9582:Rpgrip1l
|
UTSW |
8 |
91,270,258 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9604:Rpgrip1l
|
UTSW |
8 |
91,304,805 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9614:Rpgrip1l
|
UTSW |
8 |
91,260,806 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9697:Rpgrip1l
|
UTSW |
8 |
91,260,763 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
Z1088:Rpgrip1l
|
UTSW |
8 |
91,270,120 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1088:Rpgrip1l
|
UTSW |
8 |
91,260,975 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
Z1088:Rpgrip1l
|
UTSW |
8 |
91,220,179 (GRCm38) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACAGTAAAGACGGGCTC -3'
(R):5'- GAACCAGAGGCTGTTCAGAG -3'
Sequencing Primer
(F):5'- TAAAGACGGGCTCTGCTTAC -3'
(R):5'- AGAGGCTGTTCAGAGACTACCTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation