Incidental Mutation 'IGL03343:Itprid1'
ID 417325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itprid1
Ensembl Gene ENSMUSG00000037973
Gene Name ITPR interacting domain containing 1
Synonyms D530004J12Rik, Ccdc129
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03343
Quality Score
Status
Chromosome 6
Chromosomal Location 55813880-55955720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 55945569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 763 (D763E)
Ref Sequence ENSEMBL: ENSMUSP00000045332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044729]
AlphaFold Q14B48
Predicted Effect probably damaging
Transcript: ENSMUST00000044729
AA Change: D763E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: D763E

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,725,064 (GRCm39) H795R probably damaging Het
Adgrl2 A T 3: 148,565,016 (GRCm39) I188K probably damaging Het
Adgrv1 A G 13: 81,431,507 (GRCm39) Y5974H probably damaging Het
Angpt4 A G 2: 151,778,623 (GRCm39) T336A probably damaging Het
Arhgap30 C A 1: 171,236,662 (GRCm39) T1012N probably damaging Het
Asl A T 5: 130,040,908 (GRCm39) Y178N probably damaging Het
Brd1 C A 15: 88,591,454 (GRCm39) L714F possibly damaging Het
Ccdc47 A G 11: 106,095,788 (GRCm39) S303P probably damaging Het
Cdcp3 T A 7: 130,848,420 (GRCm39) I858N probably damaging Het
Cdk16 A G X: 20,561,998 (GRCm39) K264E probably damaging Het
Cenpc1 A T 5: 86,164,181 (GRCm39) F813L probably damaging Het
Cfp A C X: 20,794,248 (GRCm39) F291C possibly damaging Het
Chordc1 T G 9: 18,223,762 (GRCm39) F276V probably damaging Het
Clic4 C T 4: 134,945,889 (GRCm39) R176H possibly damaging Het
Fcer1a T G 1: 173,053,040 (GRCm39) N52T possibly damaging Het
Fndc7 A T 3: 108,774,624 (GRCm39) C545S probably damaging Het
Frem2 T C 3: 53,559,674 (GRCm39) D1611G probably damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gga3 A T 11: 115,483,312 (GRCm39) N82K probably damaging Het
Gm43638 G A 5: 87,608,484 (GRCm39) P452S possibly damaging Het
Gpn1 T C 5: 31,662,309 (GRCm39) S244P probably damaging Het
Hspa12a T C 19: 58,787,828 (GRCm39) S665G probably benign Het
Htt A G 5: 34,983,385 (GRCm39) I995V probably benign Het
Iars1 A T 13: 49,878,223 (GRCm39) I916L probably benign Het
Ice1 C A 13: 70,751,048 (GRCm39) L1679F probably damaging Het
Inpp1 A T 1: 52,838,486 (GRCm39) D54E probably damaging Het
Irf2bpl T C 12: 86,929,713 (GRCm39) E320G possibly damaging Het
Kcnn2 T C 18: 45,810,026 (GRCm39) V421A probably damaging Het
Micu2 A G 14: 58,154,768 (GRCm39) V419A probably benign Het
Nek9 C T 12: 85,350,383 (GRCm39) C897Y probably damaging Het
Ofcc1 A C 13: 40,226,140 (GRCm39) H797Q probably benign Het
Or12d17 G A 17: 37,777,300 (GRCm39) D68N probably damaging Het
Or2y16 C A 11: 49,335,070 (GRCm39) H131N probably damaging Het
Or5m12 T C 2: 85,735,285 (GRCm39) T38A probably benign Het
Or6c69c T G 10: 129,911,125 (GRCm39) L282R probably damaging Het
Pakap C T 4: 57,688,502 (GRCm39) T115M probably damaging Het
Papss1 G A 3: 131,288,950 (GRCm39) G151S probably benign Het
Plxnb1 A G 9: 108,943,780 (GRCm39) T1956A probably damaging Het
Pomt1 A G 2: 32,143,724 (GRCm39) probably benign Het
Ppfibp2 T A 7: 107,337,126 (GRCm39) Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 (GRCm39) E493G probably damaging Het
Ptk2b A G 14: 66,406,870 (GRCm39) F621L probably benign Het
Ptpn13 G T 5: 103,702,816 (GRCm39) D1261Y possibly damaging Het
Ptprd C T 4: 75,977,966 (GRCm39) G181D probably damaging Het
Rabgap1l T C 1: 160,270,853 (GRCm39) T645A probably benign Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Smc3 A G 19: 53,602,273 (GRCm39) N40S probably damaging Het
Spata31 A T 13: 65,067,587 (GRCm39) D83V probably benign Het
Sptb C T 12: 76,630,330 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,028 (GRCm39) C493* probably null Het
Styxl2 T C 1: 165,927,017 (GRCm39) D865G probably benign Het
Ubr2 C A 17: 47,262,844 (GRCm39) V1256L probably benign Het
Ubr3 T C 2: 69,803,490 (GRCm39) probably benign Het
Vmn2r105 C T 17: 20,446,631 (GRCm39) W456* probably null Het
Vmn2r24 T A 6: 123,793,070 (GRCm39) I799N probably damaging Het
Vps13b G A 15: 35,917,316 (GRCm39) G3720D possibly damaging Het
Other mutations in Itprid1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02