Incidental Mutation 'R7382:Itprid1'
| ID |
572792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
045464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55955404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 1004
(G1004V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044729
AA Change: G1004V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: G1004V
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,103 (GRCm39) |
H404Q |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,651,037 (GRCm39) |
M53K |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,570,020 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adgrl2 |
T |
G |
3: 148,522,919 (GRCm39) |
Q435P |
|
Het |
| Ahr |
A |
T |
12: 35,554,514 (GRCm39) |
M535K |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,954 (GRCm39) |
I2123V |
probably benign |
Het |
| Ankrd2 |
G |
T |
19: 42,033,411 (GRCm39) |
G318C |
|
Het |
| Ap4e1 |
T |
A |
2: 126,850,822 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
G |
A |
14: 59,892,043 (GRCm39) |
P1102S |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,216,048 (GRCm39) |
S105F |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,233,173 (GRCm39) |
P1872T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,904,269 (GRCm39) |
F251L |
probably benign |
Het |
| Ccdc18 |
C |
A |
5: 108,286,873 (GRCm39) |
Q136K |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,271 (GRCm39) |
|
probably null |
Het |
| Cd209d |
A |
T |
8: 3,927,965 (GRCm39) |
Y46* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,208,262 (GRCm39) |
M728K |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,944 (GRCm39) |
D866G |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,906,031 (GRCm39) |
H135R |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,681,451 (GRCm39) |
L63* |
probably null |
Het |
| Cpeb4 |
A |
G |
11: 31,822,828 (GRCm39) |
T181A |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,169 (GRCm39) |
E830G |
probably damaging |
Het |
| Endou |
T |
A |
15: 97,616,807 (GRCm39) |
K239* |
probably null |
Het |
| Ezh2 |
T |
C |
6: 47,528,770 (GRCm39) |
N263S |
possibly damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,697,314 (GRCm39) |
D351G |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,862,669 (GRCm39) |
Y1720* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,491,229 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,278,880 (GRCm39) |
V535E |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,382 (GRCm39) |
V139A |
probably benign |
Het |
| Gpr180 |
T |
G |
14: 118,400,035 (GRCm39) |
V401G |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,110,936 (GRCm39) |
R971S |
possibly damaging |
Het |
| Igkv8-34 |
C |
A |
6: 70,021,103 (GRCm39) |
A120S |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,645,370 (GRCm39) |
H219Q |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,962,526 (GRCm39) |
|
probably null |
Het |
| Mael |
G |
A |
1: 166,029,167 (GRCm39) |
P419S |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,121,266 (GRCm39) |
T102A |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,916 (GRCm39) |
I119N |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,685 (GRCm39) |
V1877A |
unknown |
Het |
| Myo5c |
A |
C |
9: 75,211,332 (GRCm39) |
S1733R |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,176 (GRCm39) |
V248A |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,334,763 (GRCm39) |
I663N |
probably damaging |
Het |
| Olig3 |
T |
A |
10: 19,232,413 (GRCm39) |
S13T |
unknown |
Het |
| Or1j17 |
G |
T |
2: 36,578,046 (GRCm39) |
E11* |
probably null |
Het |
| Or8k39 |
T |
C |
2: 86,563,129 (GRCm39) |
I276V |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,150,590 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
T |
8: 117,781,610 (GRCm39) |
L812M |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,759 (GRCm39) |
T387I |
probably damaging |
Het |
| Ppara |
C |
T |
15: 85,671,429 (GRCm39) |
S110L |
probably damaging |
Het |
| Ranbp9 |
C |
T |
13: 43,578,590 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rufy2 |
G |
T |
10: 62,833,748 (GRCm39) |
R270L |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,806,346 (GRCm39) |
E272K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,182 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,093 (GRCm39) |
S21N |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,458,466 (GRCm39) |
D176E |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,295,621 (GRCm39) |
Y82N |
probably damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,774,370 (GRCm39) |
P479L |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,570,229 (GRCm39) |
K744R |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,688,180 (GRCm39) |
D495G |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,695,494 (GRCm39) |
S156P |
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,170 (GRCm39) |
D343V |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,924,265 (GRCm39) |
T164N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,977,326 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
A |
19: 55,915,172 (GRCm39) |
W461R |
unknown |
Het |
| Tmprss11c |
A |
T |
5: 86,379,723 (GRCm39) |
F395Y |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,932,280 (GRCm39) |
Y711* |
probably null |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,374 (GRCm39) |
K1216E |
probably damaging |
Het |
| Ube2q2 |
A |
C |
9: 55,070,298 (GRCm39) |
D80A |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,389,379 (GRCm39) |
K227* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,048,788 (GRCm39) |
Y265H |
possibly damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,756 (GRCm39) |
Y247S |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,276 (GRCm39) |
C525R |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,596,849 (GRCm39) |
T3090A |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,336,573 (GRCm39) |
K674R |
probably benign |
Het |
| Zfp202 |
G |
T |
9: 40,122,801 (GRCm39) |
R521I |
probably damaging |
Het |
| Zfp433 |
T |
C |
10: 81,556,659 (GRCm39) |
V387A |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,067,046 (GRCm39) |
|
probably null |
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 |
|
R2191:Itprid1
|
UTSW |
6 |
55,944,704 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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'- GCGACAATCTGCCACAATG -3'
(R):5'- TCAGTCAGTTACATAGTGGGCG -3'
Sequencing Primer
(F):5'- CATGGCCAGAGATCATGTGTTCAAAC -3'
(R):5'- TTACATAGTGGGCGCATGCAATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation