Incidental Mutation 'R1588:Itprid1'
ID 177634
Institutional Source Beutler Lab
Gene Symbol Itprid1
Ensembl Gene ENSMUSG00000037973
Gene Name ITPR interacting domain containing 1
Synonyms D530004J12Rik, Ccdc129
MMRRC Submission 039625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1588 (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 55955488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1032 (E1032G)
Ref Sequence ENSEMBL: ENSMUSP00000045332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044729]
AlphaFold Q14B48
Predicted Effect possibly damaging
Transcript: ENSMUST00000044729
AA Change: E1032G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: E1032G

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,771,484 (GRCm39) V869A probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Adamts13 A T 2: 26,865,687 (GRCm39) I81F probably benign Het
Akap11 A T 14: 78,747,685 (GRCm39) N1567K possibly damaging Het
Arrdc4 G A 7: 68,391,484 (GRCm39) T261M possibly damaging Het
C4b T C 17: 34,959,999 (GRCm39) I326V probably benign Het
Casp8ap2 G A 4: 32,640,541 (GRCm39) A532T probably benign Het
Ccdc134 A G 15: 82,019,337 (GRCm39) T187A probably benign Het
Cdh8 T C 8: 99,917,039 (GRCm39) N359D probably damaging Het
Cep97 A G 16: 55,748,184 (GRCm39) L82P probably damaging Het
Cfap53 A T 18: 74,440,444 (GRCm39) R404S probably benign Het
Chrng C A 1: 87,135,229 (GRCm39) F179L probably damaging Het
Ddi1 A T 9: 6,265,391 (GRCm39) I326K probably damaging Het
Decr2 T C 17: 26,302,002 (GRCm39) T243A possibly damaging Het
Dip2c T C 13: 9,715,900 (GRCm39) V1502A probably damaging Het
Edem1 T C 6: 108,818,640 (GRCm39) V216A probably damaging Het
Fat2 A C 11: 55,174,230 (GRCm39) V2161G probably damaging Het
Fbn1 T C 2: 125,161,034 (GRCm39) T2169A probably benign Het
Fmn1 T C 2: 113,196,043 (GRCm39) V581A unknown Het
Hip1r A T 5: 124,134,638 (GRCm39) D350V probably damaging Het
Ift140 G A 17: 25,306,959 (GRCm39) R898H probably damaging Het
Il12a A G 3: 68,602,896 (GRCm39) I159V probably benign Het
Kl A G 5: 150,906,097 (GRCm39) E489G probably benign Het
Klhl3 T C 13: 58,161,712 (GRCm39) E461G probably damaging Het
Masp1 T C 16: 23,313,404 (GRCm39) Y177C probably damaging Het
Nop58 T A 1: 59,742,031 (GRCm39) Y187N probably damaging Het
Npc1l1 A G 11: 6,167,785 (GRCm39) V1002A probably benign Het
Ntaq1 T A 15: 58,021,285 (GRCm39) probably null Het
Ntrk1 A T 3: 87,687,384 (GRCm39) Y683* probably null Het
Or11g26 A G 14: 50,753,584 (GRCm39) I308V probably benign Het
Or13j1 C T 4: 43,705,923 (GRCm39) C215Y probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or8k21 T C 2: 86,144,874 (GRCm39) Y252C probably damaging Het
Osbpl6 T C 2: 76,409,560 (GRCm39) V367A probably benign Het
Phip A G 9: 82,782,881 (GRCm39) W855R probably damaging Het
Phlpp1 A G 1: 106,308,115 (GRCm39) S1131G probably damaging Het
Pkdrej A T 15: 85,701,442 (GRCm39) V1498E probably benign Het
Pramel22 G T 4: 143,382,121 (GRCm39) L192M probably damaging Het
Prkaa2 T C 4: 104,908,420 (GRCm39) N152D probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,052,558 (GRCm39) V732M probably damaging Het
Rccd1 C T 7: 79,969,859 (GRCm39) W223* probably null Het
Riox2 T A 16: 59,295,946 (GRCm39) S16T possibly damaging Het
Scn5a C T 9: 119,350,367 (GRCm39) V836I probably damaging Het
Serpinf1 G A 11: 75,301,076 (GRCm39) R380C probably damaging Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shprh T A 10: 11,040,488 (GRCm39) C134S probably damaging Het
Skint8 T A 4: 111,785,924 (GRCm39) C123* probably null Het
Slc16a13 G T 11: 70,109,421 (GRCm39) S360* probably null Het
Srr A G 11: 74,799,629 (GRCm39) I282T possibly damaging Het
Trpm1 T C 7: 63,873,565 (GRCm39) F607L possibly damaging Het
Ttn T C 2: 76,539,870 (GRCm39) D34372G probably benign Het
Tub C T 7: 108,628,888 (GRCm39) T401I probably damaging Het
Wdhd1 T C 14: 47,493,693 (GRCm39) E9G probably damaging Het
Yipf3 T A 17: 46,561,787 (GRCm39) F198Y possibly damaging Het
Zfp955a C T 17: 33,460,791 (GRCm39) R447K probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCCACAATGCAACTGGACAGAAG -3'
(R):5'- TCATCCTCCACTAGGACACATGCTC -3'

Sequencing Primer
(F):5'- GAGATCATGTGTTCAAACCCATGC -3'
(R):5'- cactaggacacatgctctatcag -3'
Posted On 2014-04-24