Incidental Mutation 'R5935:Itprid1'
| ID |
462166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itprid1
|
| Ensembl Gene |
ENSMUSG00000037973 |
| Gene Name |
ITPR interacting domain containing 1 |
| Synonyms |
D530004J12Rik, Ccdc129 |
| MMRRC Submission |
044129-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5935 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55813880-55955720 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 55874754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 235
(R235*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
| AlphaFold |
Q14B48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044729
AA Change: R235*
|
| SMART Domains |
Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: R235*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (92/96) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
C |
G |
8: 43,974,335 (GRCm39) |
M222I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,992,546 (GRCm39) |
V4610A |
possibly damaging |
Het |
| Ankrd13c |
C |
T |
3: 157,653,220 (GRCm39) |
|
silent |
Het |
| Cables2 |
A |
G |
2: 179,903,841 (GRCm39) |
|
probably benign |
Het |
| Cabp2 |
C |
A |
19: 4,136,497 (GRCm39) |
A181D |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,651,999 (GRCm39) |
D265G |
probably damaging |
Het |
| Cbs |
G |
T |
17: 31,851,853 (GRCm39) |
T50N |
probably damaging |
Het |
| Cenpa |
A |
T |
5: 30,830,381 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,063,598 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,445,445 (GRCm39) |
E1694G |
possibly damaging |
Het |
| Copz1 |
A |
T |
15: 103,203,197 (GRCm39) |
M104L |
probably benign |
Het |
| Crot |
T |
A |
5: 9,024,192 (GRCm39) |
M335L |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,120,904 (GRCm39) |
D373G |
probably benign |
Het |
| Ctu2 |
G |
A |
8: 123,203,693 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,027,455 (GRCm39) |
Y75* |
probably null |
Het |
| Dbi |
A |
G |
1: 120,048,583 (GRCm39) |
I21T |
probably benign |
Het |
| Dcun1d3 |
A |
G |
7: 119,458,799 (GRCm39) |
S79P |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,483,304 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,381,875 (GRCm39) |
I543N |
probably damaging |
Het |
| Epx |
G |
T |
11: 87,756,318 (GRCm39) |
A621E |
probably damaging |
Het |
| Farp2 |
G |
A |
1: 93,548,367 (GRCm39) |
|
probably null |
Het |
| Gm11992 |
C |
T |
11: 9,002,711 (GRCm39) |
P25S |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,758,502 (GRCm39) |
M307K |
possibly damaging |
Het |
| Hnf1b |
A |
T |
11: 83,773,503 (GRCm39) |
N234I |
probably damaging |
Het |
| Htr2a |
A |
G |
14: 74,882,530 (GRCm39) |
D172G |
probably damaging |
Het |
| Ifit1bl2 |
T |
C |
19: 34,597,128 (GRCm39) |
T163A |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,235,578 (GRCm39) |
D1534E |
probably benign |
Het |
| Il3ra |
T |
G |
14: 14,350,799 (GRCm38) |
V178G |
probably damaging |
Het |
| Itgb1 |
A |
T |
8: 129,439,718 (GRCm39) |
K136* |
probably null |
Het |
| Lama2 |
T |
A |
10: 26,891,494 (GRCm39) |
I2540F |
probably benign |
Het |
| Lrp8 |
C |
A |
4: 107,714,493 (GRCm39) |
H622Q |
probably damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,795,629 (GRCm39) |
M138K |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,630,034 (GRCm39) |
H1242N |
probably benign |
Het |
| Lsm11 |
G |
C |
11: 45,835,445 (GRCm39) |
R99G |
probably benign |
Het |
| Mif4gd |
C |
T |
11: 115,500,439 (GRCm39) |
V40M |
probably benign |
Het |
| Mpp3 |
A |
T |
11: 101,916,241 (GRCm39) |
V37D |
probably damaging |
Het |
| Mre11a |
T |
A |
9: 14,698,258 (GRCm39) |
D35E |
probably damaging |
Het |
| Mroh4 |
C |
A |
15: 74,493,003 (GRCm39) |
V233F |
probably damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,068 (GRCm39) |
S123T |
possibly damaging |
Het |
| Nrip2 |
A |
G |
6: 128,385,361 (GRCm39) |
Y264C |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,897,639 (GRCm39) |
S6639P |
unknown |
Het |
| Or10d4 |
C |
T |
9: 39,580,386 (GRCm39) |
T11I |
probably benign |
Het |
| Or51t4 |
T |
A |
7: 102,598,017 (GRCm39) |
F105Y |
probably benign |
Het |
| Osbpl5 |
C |
T |
7: 143,310,695 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,243 (GRCm39) |
D307G |
probably damaging |
Het |
| Pde1b |
A |
G |
15: 103,429,866 (GRCm39) |
K120E |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,295,255 (GRCm39) |
S154P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,796,876 (GRCm39) |
K889R |
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,017,872 (GRCm39) |
D439V |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,411,328 (GRCm39) |
I401T |
probably damaging |
Het |
| Rab24 |
T |
C |
13: 55,468,343 (GRCm39) |
T153A |
probably damaging |
Het |
| Rarb |
C |
A |
14: 16,434,264 (GRCm38) |
A305S |
probably damaging |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Scn10a |
G |
A |
9: 119,456,237 (GRCm39) |
T1194I |
probably damaging |
Het |
| Scn3a |
G |
T |
2: 65,295,180 (GRCm39) |
N1514K |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,011,105 (GRCm39) |
T36A |
probably benign |
Het |
| Shisa5 |
T |
A |
9: 108,885,751 (GRCm39) |
M229K |
possibly damaging |
Het |
| Sik2 |
C |
T |
9: 50,828,431 (GRCm39) |
G204R |
probably damaging |
Het |
| Sla |
C |
T |
15: 66,665,554 (GRCm39) |
G46E |
probably damaging |
Het |
| Slc35g3 |
A |
T |
11: 69,652,509 (GRCm39) |
M1K |
probably null |
Het |
| Slc5a7 |
A |
T |
17: 54,583,972 (GRCm39) |
Y439* |
probably null |
Het |
| Slc9a1 |
T |
C |
4: 133,147,176 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
T |
G |
14: 110,987,305 (GRCm39) |
T801P |
probably benign |
Het |
| Spata31d1c |
T |
C |
13: 65,184,894 (GRCm39) |
V812A |
possibly damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,971,465 (GRCm39) |
L230P |
probably benign |
Het |
| Spef1l |
G |
A |
7: 139,556,526 (GRCm39) |
H154Y |
probably benign |
Het |
| Sphkap |
A |
C |
1: 83,317,320 (GRCm39) |
L59R |
probably damaging |
Het |
| Spmip8 |
A |
T |
8: 96,046,620 (GRCm39) |
T98S |
possibly damaging |
Het |
| Srsf10 |
C |
A |
4: 135,583,553 (GRCm39) |
R6S |
probably damaging |
Het |
| Supt5 |
T |
A |
7: 28,028,900 (GRCm39) |
R131S |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,310,706 (GRCm39) |
|
probably null |
Het |
| Tet2 |
T |
A |
3: 133,194,296 (GRCm39) |
H46L |
possibly damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,244,819 (GRCm39) |
N169K |
probably damaging |
Het |
| Tprg1 |
A |
T |
16: 25,136,011 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,536,556 (GRCm39) |
Y104C |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,590 (GRCm39) |
Y952C |
probably damaging |
Het |
| Umod |
A |
T |
7: 119,070,650 (GRCm39) |
I414N |
probably damaging |
Het |
| Usp10 |
G |
T |
8: 120,673,828 (GRCm39) |
V398L |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,854 (GRCm39) |
I736F |
possibly damaging |
Het |
| Vmn2r65 |
C |
A |
7: 84,592,869 (GRCm39) |
G446V |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Yars2 |
A |
G |
16: 16,127,335 (GRCm39) |
I467V |
probably benign |
Het |
| Ykt6 |
A |
G |
11: 5,909,338 (GRCm39) |
E49G |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,442,192 (GRCm39) |
M1907L |
unknown |
Het |
| Zdhhc2 |
T |
C |
8: 40,917,277 (GRCm39) |
S225P |
probably damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,267,262 (GRCm39) |
|
probably benign |
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 |
|
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'- TACGGCATCAAAGTAGTTTAATGGC -3'
(R):5'- GCATTTGACTTGCATCATGGCTAATG -3'
Sequencing Primer
(F):5'- GGATCATGTGACCAATGC -3'
(R):5'- CTTGCATCATGGCTAATGGAAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation