Incidental Mutation 'R2943:Ripor3'
| ID |
255816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripor3
|
| Ensembl Gene |
ENSMUSG00000074577 |
| Gene Name |
RIPOR family member 3 |
| Synonyms |
Fam65c, 2310033K02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2943 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
167822084-167852538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 167825681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 759
(H759R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029053]
[ENSMUST00000099073]
|
| AlphaFold |
A1L3T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029053
|
| SMART Domains |
Protein: ENSMUSP00000029053
Gene: ENSMUSG00000027540
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
15 |
279 |
1.35e-123 |
SMART |
|
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099073
AA Change: H759R
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
AA Change: H759R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PL48
|
19 |
363 |
3.5e-169 |
PFAM |
|
low complexity region
|
414 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
602 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
794 |
909 |
6e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131572
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
| Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
| Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
| Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
| Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
| Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
| Other mutations in Ripor3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Ripor3
|
APN |
2 |
167,835,495 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01621:Ripor3
|
APN |
2 |
167,839,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01819:Ripor3
|
APN |
2 |
167,822,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Ripor3
|
APN |
2 |
167,825,071 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02110:Ripor3
|
APN |
2 |
167,836,626 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02270:Ripor3
|
APN |
2 |
167,835,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02403:Ripor3
|
APN |
2 |
167,831,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Ripor3
|
APN |
2 |
167,834,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL02447:Ripor3
|
APN |
2 |
167,834,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02711:Ripor3
|
APN |
2 |
167,848,200 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03187:Ripor3
|
APN |
2 |
167,827,588 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03304:Ripor3
|
APN |
2 |
167,822,848 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ripor3
|
UTSW |
2 |
167,826,358 (GRCm39) |
splice site |
probably benign |
|
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Ripor3
|
UTSW |
2 |
167,834,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Ripor3
|
UTSW |
2 |
167,825,692 (GRCm39) |
nonsense |
probably null |
|
|
R1457:Ripor3
|
UTSW |
2 |
167,834,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Ripor3
|
UTSW |
2 |
167,842,297 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1619:Ripor3
|
UTSW |
2 |
167,822,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2358:Ripor3
|
UTSW |
2 |
167,825,785 (GRCm39) |
splice site |
probably benign |
|
|
R2431:Ripor3
|
UTSW |
2 |
167,831,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3000:Ripor3
|
UTSW |
2 |
167,833,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Ripor3
|
UTSW |
2 |
167,834,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Ripor3
|
UTSW |
2 |
167,834,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Ripor3
|
UTSW |
2 |
167,826,386 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4796:Ripor3
|
UTSW |
2 |
167,823,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4854:Ripor3
|
UTSW |
2 |
167,834,733 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4934:Ripor3
|
UTSW |
2 |
167,824,736 (GRCm39) |
missense |
probably benign |
|
|
R4968:Ripor3
|
UTSW |
2 |
167,827,037 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5662:Ripor3
|
UTSW |
2 |
167,835,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5739:Ripor3
|
UTSW |
2 |
167,823,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Ripor3
|
UTSW |
2 |
167,839,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Ripor3
|
UTSW |
2 |
167,835,253 (GRCm39) |
splice site |
probably null |
|
|
R6969:Ripor3
|
UTSW |
2 |
167,827,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Ripor3
|
UTSW |
2 |
167,839,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7609:Ripor3
|
UTSW |
2 |
167,826,490 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7818:Ripor3
|
UTSW |
2 |
167,831,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8175:Ripor3
|
UTSW |
2 |
167,825,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Ripor3
|
UTSW |
2 |
167,825,119 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9120:Ripor3
|
UTSW |
2 |
167,822,835 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9130:Ripor3
|
UTSW |
2 |
167,823,267 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Ripor3
|
UTSW |
2 |
167,831,238 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9550:Ripor3
|
UTSW |
2 |
167,822,807 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9660:Ripor3
|
UTSW |
2 |
167,831,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGTTTTGACAGCTAGAGGG -3'
(R):5'- AGGTCCTAGAATCAGGAGTCTGC -3'
Sequencing Primer
(F):5'- TTTTGACAGCTAGAGGGAGAGTTAC -3'
(R):5'- TGACTGTAAGGGGGCTCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation