Incidental Mutation 'R4332:Itprid1'
ID 323624
Institutional Source Beutler Lab
Gene Symbol Itprid1
Ensembl Gene ENSMUSG00000037973
Gene Name ITPR interacting domain containing 1
Synonyms D530004J12Rik, Ccdc129
MMRRC Submission 041099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4332 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 55813880-55955720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55945220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 647 (G647D)
Ref Sequence ENSEMBL: ENSMUSP00000045332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044729]
AlphaFold Q14B48
Predicted Effect possibly damaging
Transcript: ENSMUST00000044729
AA Change: G647D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045332
Gene: ENSMUSG00000037973
AA Change: G647D

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T C 8: 106,436,356 (GRCm39) I175T possibly damaging Het
A2m A G 6: 121,634,406 (GRCm39) D646G probably benign Het
Acat2 T C 17: 13,181,782 (GRCm39) probably benign Het
Armc10 T A 5: 21,866,579 (GRCm39) V281E probably damaging Het
Best3 T A 10: 116,838,429 (GRCm39) F162L probably benign Het
Ces1g T C 8: 94,046,446 (GRCm39) M360V probably benign Het
Chd7 G T 4: 8,854,143 (GRCm39) R1905L probably damaging Het
Dhx36 C T 3: 62,392,412 (GRCm39) R538Q probably damaging Het
Efna2 G A 10: 80,024,315 (GRCm39) R161Q probably damaging Het
Farsb T C 1: 78,445,903 (GRCm39) T159A possibly damaging Het
Fry C T 5: 150,305,128 (GRCm39) A611V probably damaging Het
Fsip2 A G 2: 82,808,201 (GRCm39) T1507A probably benign Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm7367 T C 7: 59,805,364 (GRCm39) noncoding transcript Het
Gm9312 A T 12: 24,302,095 (GRCm39) noncoding transcript Het
Gmfg A T 7: 28,136,997 (GRCm39) M1L probably benign Het
Gpr149 C A 3: 62,511,794 (GRCm39) L68F possibly damaging Het
Hmga2 T C 10: 120,200,117 (GRCm39) probably benign Het
Il12a C A 3: 68,602,594 (GRCm39) probably benign Het
Itsn2 T A 12: 4,762,611 (GRCm39) M1597K possibly damaging Het
Kyat3 A G 3: 142,431,187 (GRCm39) I154M probably damaging Het
Npas3 A C 12: 54,108,852 (GRCm39) I419L probably damaging Het
Ogfrl1 T A 1: 23,414,910 (GRCm39) Y199F probably damaging Het
Or14a259 A C 7: 86,013,080 (GRCm39) V155G probably benign Het
Or5aq7 A G 2: 86,938,089 (GRCm39) V214A possibly damaging Het
Or6b6 T C 7: 106,571,354 (GRCm39) M66V probably benign Het
P2rx3 G A 2: 84,855,205 (GRCm39) P84S probably benign Het
P3h3 A G 6: 124,819,099 (GRCm39) V657A probably damaging Het
Pabpc2 A G 18: 39,908,393 (GRCm39) M553V probably benign Het
Pcdhb1 T C 18: 37,398,583 (GRCm39) F178S probably damaging Het
Plppr4 A T 3: 117,116,474 (GRCm39) M403K probably benign Het
Ralgapa2 G A 2: 146,102,288 (GRCm39) T1956M probably benign Het
Rbm12b1 G T 4: 12,145,655 (GRCm39) K542N probably benign Het
Rdh8 C T 9: 20,733,925 (GRCm39) A37V probably damaging Het
Rnf213 A G 11: 119,327,502 (GRCm39) T1830A probably damaging Het
Sardh G T 2: 27,105,126 (GRCm39) Q666K possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 T G 11: 87,458,730 (GRCm39) L368R possibly damaging Het
Serpinb11 G A 1: 107,297,294 (GRCm39) probably null Het
Slc6a6 G A 6: 91,700,452 (GRCm39) G60D probably damaging Het
Tfr2 A G 5: 137,569,996 (GRCm39) D134G probably damaging Het
Tmprss15 T C 16: 78,831,222 (GRCm39) T378A probably benign Het
Tmprss7 T G 16: 45,506,690 (GRCm39) K124T probably benign Het
Urb1 A G 16: 90,571,425 (GRCm39) L1128P probably damaging Het
Usp32 C T 11: 84,994,804 (GRCm39) C36Y possibly damaging Het
Vmn2r50 T A 7: 9,786,922 (GRCm39) T62S probably benign Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null 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
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
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'- TGTAGGCCACAAGGGTACTC -3'
(R):5'- TGGAGTGCATTCAAAAGCTGTTC -3'

Sequencing Primer
(F):5'- CTTTGAGTCACCAAGGTCATTCAGG -3'
(R):5'- AAAGCTGTTCCTTTATTATAGGTCCC -3'
Posted On 2015-06-24