Incidental Mutation 'R2358:Ripor3'
| ID |
246996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ripor3
|
| Ensembl Gene |
ENSMUSG00000074577 |
| Gene Name |
RIPOR family member 3 |
| Synonyms |
Fam65c, 2310033K02Rik |
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
167822084-167852538 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 167825785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
Transcript: ENSMUST00000099073
|
| SMART Domains |
Protein: ENSMUSP00000096672
Gene: ENSMUSG00000074577
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142702
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly 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 |
|
R2431:Ripor3
|
UTSW |
2 |
167,831,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2943:Ripor3
|
UTSW |
2 |
167,825,681 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- ACCTTCCTTGGTGAGCTGAG -3'
(R):5'- ACTGGTGATTACTGGCTAGCTG -3'
Sequencing Primer
(F):5'- AGCGAGATGTTTCTCCAAGTC -3'
(R):5'- TCTCTGTCAAATAACTAAAAGACAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation