Incidental Mutation 'R2191:Itprid1'
| ID |
238097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55944704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 475
(Q475L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044729
AA Change: Q475L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: Q475L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAP_IP3R_bind
|
112 |
264 |
2.99e-82 |
SMART |
|
low complexity region
|
326 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
789 |
N/A |
INTRINSIC |
|
Pfam:SSFA2_C
|
806 |
916 |
3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169699
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,218,576 (GRCm39) |
L736* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,796,266 (GRCm39) |
R926W |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
| Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
| Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,441 (GRCm39) |
D138G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,465 (GRCm39) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,756,528 (GRCm39) |
S700T |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
possibly damaging |
Het |
|
| Other mutations in Itprid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Itprid1
|
APN |
6 |
55,945,022 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01317:Itprid1
|
APN |
6 |
55,944,790 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01390:Itprid1
|
APN |
6 |
55,874,983 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01696:Itprid1
|
APN |
6 |
55,874,680 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01941:Itprid1
|
APN |
6 |
55,945,030 (GRCm39) |
missense |
probably benign |
|
|
IGL01967:Itprid1
|
APN |
6 |
55,874,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02071:Itprid1
|
APN |
6 |
55,944,710 (GRCm39) |
nonsense |
probably null |
|
|
IGL02232:Itprid1
|
APN |
6 |
55,944,922 (GRCm39) |
missense |
unknown |
|
|
IGL02268:Itprid1
|
APN |
6 |
55,861,673 (GRCm39) |
splice site |
probably benign |
|
|
IGL02440:Itprid1
|
APN |
6 |
55,861,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02614:Itprid1
|
APN |
6 |
55,945,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02626:Itprid1
|
APN |
6 |
55,945,631 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02674:Itprid1
|
APN |
6 |
55,874,913 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02836:Itprid1
|
APN |
6 |
55,875,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Itprid1
|
APN |
6 |
55,851,339 (GRCm39) |
splice site |
probably null |
|
|
IGL02889:Itprid1
|
APN |
6 |
55,878,443 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03103:Itprid1
|
APN |
6 |
55,945,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03117:Itprid1
|
APN |
6 |
55,875,114 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03343:Itprid1
|
APN |
6 |
55,945,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Itprid1
|
UTSW |
6 |
55,945,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Itprid1
|
UTSW |
6 |
55,849,457 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0200:Itprid1
|
UTSW |
6 |
55,874,941 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0245:Itprid1
|
UTSW |
6 |
55,874,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Itprid1
|
UTSW |
6 |
55,953,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Itprid1
|
UTSW |
6 |
55,875,228 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0357:Itprid1
|
UTSW |
6 |
55,945,019 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1109:Itprid1
|
UTSW |
6 |
55,945,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1118:Itprid1
|
UTSW |
6 |
55,866,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Itprid1
|
UTSW |
6 |
55,866,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Itprid1
|
UTSW |
6 |
55,952,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Itprid1
|
UTSW |
6 |
55,952,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Itprid1
|
UTSW |
6 |
55,955,488 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1678:Itprid1
|
UTSW |
6 |
55,945,499 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1680:Itprid1
|
UTSW |
6 |
55,945,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1729:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1737:Itprid1
|
UTSW |
6 |
55,945,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Itprid1
|
UTSW |
6 |
55,875,132 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1784:Itprid1
|
UTSW |
6 |
55,945,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:Itprid1
|
UTSW |
6 |
55,874,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Itprid1
|
UTSW |
6 |
55,945,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2037:Itprid1
|
UTSW |
6 |
55,874,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2137:Itprid1
|
UTSW |
6 |
55,866,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2190:Itprid1
|
UTSW |
6 |
55,874,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2234:Itprid1
|
UTSW |
6 |
55,874,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2235:Itprid1
|
UTSW |
6 |
55,874,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3793:Itprid1
|
UTSW |
6 |
55,952,588 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3923:Itprid1
|
UTSW |
6 |
55,945,045 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3959:Itprid1
|
UTSW |
6 |
55,874,725 (GRCm39) |
missense |
probably benign |
|
|
R4332:Itprid1
|
UTSW |
6 |
55,945,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4485:Itprid1
|
UTSW |
6 |
55,864,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Itprid1
|
UTSW |
6 |
55,944,132 (GRCm39) |
splice site |
probably null |
|
|
R4916:Itprid1
|
UTSW |
6 |
55,955,175 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5201:Itprid1
|
UTSW |
6 |
55,944,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5383:Itprid1
|
UTSW |
6 |
55,955,275 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5450:Itprid1
|
UTSW |
6 |
55,945,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5542:Itprid1
|
UTSW |
6 |
55,955,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5819:Itprid1
|
UTSW |
6 |
55,874,876 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5935:Itprid1
|
UTSW |
6 |
55,874,754 (GRCm39) |
nonsense |
probably null |
|
|
R6034:Itprid1
|
UTSW |
6 |
55,944,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6034:Itprid1
|
UTSW |
6 |
55,944,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6209:Itprid1
|
UTSW |
6 |
55,851,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Itprid1
|
UTSW |
6 |
55,944,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6463:Itprid1
|
UTSW |
6 |
55,945,663 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6490:Itprid1
|
UTSW |
6 |
55,953,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Itprid1
|
UTSW |
6 |
55,955,470 (GRCm39) |
missense |
probably benign |
|
|
R7148:Itprid1
|
UTSW |
6 |
55,874,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Itprid1
|
UTSW |
6 |
55,955,404 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7403:Itprid1
|
UTSW |
6 |
55,953,399 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Itprid1
|
UTSW |
6 |
55,955,320 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7929:Itprid1
|
UTSW |
6 |
55,874,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Itprid1
|
UTSW |
6 |
55,953,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8438:Itprid1
|
UTSW |
6 |
55,874,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Itprid1
|
UTSW |
6 |
55,875,179 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8677:Itprid1
|
UTSW |
6 |
55,849,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9090:Itprid1
|
UTSW |
6 |
55,944,051 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9196:Itprid1
|
UTSW |
6 |
55,952,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Itprid1
|
UTSW |
6 |
55,944,051 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9344:Itprid1
|
UTSW |
6 |
55,955,470 (GRCm39) |
missense |
probably benign |
|
|
R9384:Itprid1
|
UTSW |
6 |
55,952,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Itprid1
|
UTSW |
6 |
55,944,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9711:Itprid1
|
UTSW |
6 |
55,864,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itprid1
|
UTSW |
6 |
55,945,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCACGTTTATAGCCTGTGC -3'
(R):5'- AGGTCCAGCAACACTCTCTG -3'
Sequencing Primer
(F):5'- CTCAAGACTTCTGTGCCACTGG -3'
(R):5'- CCCACCATGATAGTCTTGATGAGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation