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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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