Incidental Mutation 'R2037:Itprid1'
ID |
224772 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itprid1
|
Ensembl Gene |
ENSMUSG00000037973 |
Gene Name |
ITPR interacting domain containing 1 |
Synonyms |
D530004J12Rik, Ccdc129 |
MMRRC Submission |
040044-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2037 (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 G
at 55874860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 270
(N270S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045332
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044729]
|
AlphaFold |
Q14B48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044729
AA Change: N270S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000045332 Gene: ENSMUSG00000037973 AA Change: N270S
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,980,810 (GRCm39) |
|
probably null |
Het |
AI987944 |
T |
C |
7: 41,023,815 (GRCm39) |
Y391C |
probably benign |
Het |
Ankfn1 |
A |
T |
11: 89,346,946 (GRCm39) |
S296T |
probably benign |
Het |
Apob |
A |
G |
12: 8,057,488 (GRCm39) |
D1957G |
probably benign |
Het |
Baz1a |
G |
T |
12: 54,976,431 (GRCm39) |
P415Q |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,134 (GRCm39) |
H1299Q |
probably benign |
Het |
C7 |
G |
T |
15: 5,063,720 (GRCm39) |
S227* |
probably null |
Het |
Catsperb |
A |
T |
12: 101,474,221 (GRCm39) |
R306S |
probably damaging |
Het |
Cbx3 |
T |
A |
6: 51,448,793 (GRCm39) |
|
probably null |
Het |
Ccnt2 |
A |
G |
1: 127,731,136 (GRCm39) |
Y671C |
probably damaging |
Het |
Crocc |
A |
G |
4: 140,774,253 (GRCm39) |
|
probably null |
Het |
Ctr9 |
G |
A |
7: 110,646,014 (GRCm39) |
V669I |
probably benign |
Het |
Dck |
T |
G |
5: 88,920,576 (GRCm39) |
Y99D |
probably damaging |
Het |
Ddx52 |
T |
A |
11: 83,835,432 (GRCm39) |
D119E |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,823,768 (GRCm39) |
K596N |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,621,741 (GRCm39) |
V1128E |
probably benign |
Het |
Dph1 |
A |
T |
11: 75,076,679 (GRCm39) |
|
probably null |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Enthd1 |
A |
G |
15: 80,444,550 (GRCm39) |
S2P |
possibly damaging |
Het |
Erc1 |
A |
C |
6: 119,699,216 (GRCm39) |
V802G |
possibly damaging |
Het |
F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
Fam169a |
C |
A |
13: 97,243,600 (GRCm39) |
A210E |
probably benign |
Het |
Fcmr |
A |
G |
1: 130,806,070 (GRCm39) |
D342G |
possibly damaging |
Het |
Fgfr4 |
T |
G |
13: 55,315,702 (GRCm39) |
V743G |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,808,856 (GRCm39) |
D1725G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,136,934 (GRCm39) |
C195* |
probably null |
Het |
Herc2 |
G |
A |
7: 55,855,709 (GRCm39) |
A3882T |
probably damaging |
Het |
Il20 |
T |
A |
1: 130,836,115 (GRCm39) |
N143Y |
probably damaging |
Het |
Inpp5b |
A |
G |
4: 124,692,092 (GRCm39) |
S892G |
probably damaging |
Het |
Ipo13 |
A |
T |
4: 117,761,858 (GRCm39) |
Y447* |
probably null |
Het |
Kbtbd12 |
A |
T |
6: 88,594,779 (GRCm39) |
N350K |
probably benign |
Het |
Kiz |
T |
C |
2: 146,811,880 (GRCm39) |
F663S |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,433,263 (GRCm39) |
D870G |
probably benign |
Het |
Methig1 |
C |
T |
15: 100,251,467 (GRCm39) |
A126V |
probably benign |
Het |
Mme |
A |
G |
3: 63,235,681 (GRCm39) |
D209G |
probably null |
Het |
Mroh4 |
A |
G |
15: 74,481,610 (GRCm39) |
F811L |
possibly damaging |
Het |
Myo9b |
G |
T |
8: 71,743,510 (GRCm39) |
K190N |
probably damaging |
Het |
Ncf1 |
T |
C |
5: 134,258,406 (GRCm39) |
I6V |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,310,618 (GRCm39) |
F121L |
probably damaging |
Het |
Nol10 |
A |
G |
12: 17,411,152 (GRCm39) |
D183G |
probably benign |
Het |
Nsun7 |
T |
C |
5: 66,418,429 (GRCm39) |
V53A |
probably benign |
Het |
Or10u4 |
T |
C |
10: 129,802,009 (GRCm39) |
I187V |
probably benign |
Het |
Or8j3 |
T |
C |
2: 86,028,176 (GRCm39) |
S307G |
probably benign |
Het |
Or8k22 |
T |
C |
2: 86,162,774 (GRCm39) |
N309D |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,784,214 (GRCm39) |
Y265* |
probably null |
Het |
Pigg |
G |
A |
5: 108,486,518 (GRCm39) |
A724T |
probably damaging |
Het |
Pik3r4 |
C |
T |
9: 105,527,534 (GRCm39) |
R296C |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,431,617 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
G |
12: 112,734,992 (GRCm39) |
D483G |
probably damaging |
Het |
Ppip5k1 |
C |
T |
2: 121,173,674 (GRCm39) |
R399H |
probably damaging |
Het |
Qrfpr |
A |
T |
3: 36,236,806 (GRCm39) |
H198Q |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,050,748 (GRCm39) |
D883E |
probably damaging |
Het |
Retnlg |
T |
C |
16: 48,694,615 (GRCm39) |
C88R |
probably damaging |
Het |
Sin3a |
C |
T |
9: 57,004,109 (GRCm39) |
T287I |
probably benign |
Het |
Slc44a1 |
GCC |
GCCCCC |
4: 53,563,243 (GRCm39) |
|
probably benign |
Het |
Sppl2c |
G |
C |
11: 104,077,307 (GRCm39) |
V36L |
probably benign |
Het |
Srp72 |
T |
A |
5: 77,124,338 (GRCm39) |
I68N |
probably damaging |
Het |
Srrm3 |
T |
A |
5: 135,883,231 (GRCm39) |
S195R |
probably damaging |
Het |
Srrm4 |
T |
A |
5: 116,605,887 (GRCm39) |
|
probably benign |
Het |
Ssb |
A |
G |
2: 69,699,163 (GRCm39) |
S199G |
probably benign |
Het |
Sult2a6 |
T |
A |
7: 13,988,634 (GRCm39) |
Y42F |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,072,343 (GRCm39) |
T120A |
probably benign |
Het |
Tas1r1 |
A |
G |
4: 152,112,627 (GRCm39) |
F809L |
probably damaging |
Het |
Tead3 |
A |
G |
17: 28,555,544 (GRCm39) |
S117P |
probably damaging |
Het |
Tefm |
C |
T |
11: 80,031,056 (GRCm39) |
R60H |
probably damaging |
Het |
Tmem104 |
G |
A |
11: 115,092,221 (GRCm39) |
R110H |
possibly damaging |
Het |
Tnxb |
G |
A |
17: 34,918,179 (GRCm39) |
G2364D |
probably damaging |
Het |
Vmn1r211 |
T |
A |
13: 23,036,134 (GRCm39) |
I178F |
probably damaging |
Het |
Vmn1r6 |
A |
T |
6: 56,980,109 (GRCm39) |
Y235F |
probably damaging |
Het |
Xrcc5 |
C |
A |
1: 72,385,529 (GRCm39) |
T540K |
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 |
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 |
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'- TGGATCATGTGACCAATGCC -3'
(R):5'- GGCTTGTCCAGAAGAGCATG -3'
Sequencing Primer
(F):5'- GGATCATGTGACCAATGCCTTCTC -3'
(R):5'- TTGTCCAGAAGAGCATGCGGAG -3'
|
Posted On |
2014-08-25 |