Incidental Mutation 'IGL02220:D130043K22Rik'
ID 285102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02220
Quality Score
Status
Chromosome 13
Chromosomal Location 24845135-24901270 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24883755 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 825 (G825S)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000006893
AA Change: G825S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: G825S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 3e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
FN3 728 808 9.15e1 SMART
PKD 729 820 4.38e-10 SMART
transmembrane domain 965 987 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141572
AA Change: M778I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711
AA Change: M778I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:MANEC 23 102 2e-44 BLAST
low complexity region 236 270 N/A INTRINSIC
FN3 332 427 3.43e1 SMART
PKD 345 436 3.96e0 SMART
FN3 435 521 3.08e1 SMART
PKD 444 533 7.12e-10 SMART
PKD 539 629 1.46e-6 SMART
PKD 630 723 6.75e-11 SMART
FN3 634 711 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169411
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]
PHENOTYPE: Homozygous knockout results in a mild behavioral phenotype: increased prepulse inhibition in males under certain conditions and decreased anxiety-related response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 (GRCm38) D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 (GRCm38) M1V probably null Het
Anks1 T C 17: 28,054,707 (GRCm38) I977T probably damaging Het
Bcar1 T C 8: 111,711,207 (GRCm38) D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 (GRCm38) I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 (GRCm38) G473D probably damaging Het
Cdh23 G T 10: 60,305,124 (GRCm38) H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 (GRCm38) V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 (GRCm38) probably benign Het
Dera T A 6: 137,780,817 (GRCm38) probably null Het
Dnah17 G T 11: 118,072,967 (GRCm38) Y2506* probably null Het
Enam T A 5: 88,504,559 (GRCm38) L1309* probably null Het
Fbxo15 G A 18: 84,964,192 (GRCm38) probably null Het
Fgfbp1 T C 5: 43,979,486 (GRCm38) K155E probably damaging Het
Foxj2 C T 6: 122,838,581 (GRCm38) probably benign Het
Fuca1 A G 4: 135,939,219 (GRCm38) probably benign Het
Gad1-ps T A 10: 99,445,322 (GRCm38) noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 (GRCm38) probably benign Het
Insr A T 8: 3,159,578 (GRCm38) F1168L probably damaging Het
Isx T A 8: 74,892,705 (GRCm38) V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 (GRCm38) probably benign Het
Lin9 T C 1: 180,667,367 (GRCm38) I218T probably damaging Het
Llgl2 C A 11: 115,845,379 (GRCm38) A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 (GRCm38) E488G possibly damaging Het
Maml3 A G 3: 51,690,218 (GRCm38) V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 (GRCm38) I14T probably damaging Het
Myo3b A G 2: 70,289,579 (GRCm38) probably benign Het
Nfkbil1 T C 17: 35,220,746 (GRCm38) R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 (GRCm38) L210P probably damaging Het
Pde5a G T 3: 122,748,382 (GRCm38) A174S probably benign Het
Plch1 A T 3: 63,698,961 (GRCm38) I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 (GRCm38) R1171L probably damaging Het
Prom1 T C 5: 44,014,789 (GRCm38) D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 (GRCm38) probably benign Het
Samsn1 A G 16: 75,883,875 (GRCm38) probably null Het
Sbno2 T A 10: 80,072,368 (GRCm38) T66S probably benign Het
Serpina1c T A 12: 103,896,079 (GRCm38) I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 (GRCm38) probably null Het
Slc18a2 A G 19: 59,276,556 (GRCm38) E324G probably benign Het
Slc40a1 A T 1: 45,911,335 (GRCm38) M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 (GRCm38) Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 (GRCm38) E63G possibly damaging Het
Sv2a T C 3: 96,190,716 (GRCm38) F545S probably benign Het
Svop T C 5: 114,065,528 (GRCm38) D65G probably benign Het
Tex30 A T 1: 44,087,022 (GRCm38) S182R probably benign Het
Tmem121b T C 6: 120,492,337 (GRCm38) D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 (GRCm38) probably benign Het
Tnrc6a T C 7: 123,170,456 (GRCm38) S490P probably benign Het
Ubr4 A G 4: 139,388,435 (GRCm38) T82A probably benign Het
Vps16 A G 2: 130,441,653 (GRCm38) D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 (GRCm38) S184A probably damaging Het
Other mutations in D130043K22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:D130043K22Rik APN 13 24,867,174 (GRCm38) missense probably damaging 1.00
IGL01114:D130043K22Rik APN 13 24,857,156 (GRCm38) missense probably damaging 0.99
IGL01412:D130043K22Rik APN 13 24,887,860 (GRCm38) missense probably damaging 1.00
IGL01542:D130043K22Rik APN 13 24,876,037 (GRCm38) splice site probably null
IGL01615:D130043K22Rik APN 13 24,899,796 (GRCm38) missense probably damaging 1.00
IGL01705:D130043K22Rik APN 13 24,857,941 (GRCm38) missense probably benign 0.00
IGL02229:D130043K22Rik APN 13 24,875,924 (GRCm38) missense probably damaging 1.00
IGL02576:D130043K22Rik APN 13 24,856,870 (GRCm38) missense possibly damaging 0.74
IGL03038:D130043K22Rik APN 13 24,879,619 (GRCm38) missense probably damaging 1.00
IGL03117:D130043K22Rik APN 13 24,889,842 (GRCm38) missense probably damaging 1.00
IGL03014:D130043K22Rik UTSW 13 24,858,092 (GRCm38) missense possibly damaging 0.88
R0019:D130043K22Rik UTSW 13 24,880,812 (GRCm38) missense probably damaging 1.00
R0019:D130043K22Rik UTSW 13 24,880,812 (GRCm38) missense probably damaging 1.00
R0020:D130043K22Rik UTSW 13 24,854,492 (GRCm38) utr 5 prime probably benign
R0172:D130043K22Rik UTSW 13 24,872,406 (GRCm38) missense probably benign 0.16
R0276:D130043K22Rik UTSW 13 24,858,045 (GRCm38) missense possibly damaging 0.92
R0304:D130043K22Rik UTSW 13 24,864,815 (GRCm38) missense probably benign 0.07
R0335:D130043K22Rik UTSW 13 24,887,877 (GRCm38) missense probably damaging 0.98
R0744:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R0833:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R0836:D130043K22Rik UTSW 13 24,863,580 (GRCm38) splice site probably benign
R1270:D130043K22Rik UTSW 13 24,857,338 (GRCm38) missense probably benign 0.00
R1433:D130043K22Rik UTSW 13 24,871,341 (GRCm38) missense probably damaging 1.00
R1682:D130043K22Rik UTSW 13 24,882,556 (GRCm38) missense probably damaging 1.00
R1772:D130043K22Rik UTSW 13 24,875,999 (GRCm38) missense probably damaging 1.00
R1773:D130043K22Rik UTSW 13 24,882,602 (GRCm38) missense possibly damaging 0.80
R1800:D130043K22Rik UTSW 13 24,883,894 (GRCm38) missense probably damaging 1.00
R1956:D130043K22Rik UTSW 13 24,885,595 (GRCm38) missense probably damaging 1.00
R2255:D130043K22Rik UTSW 13 24,856,911 (GRCm38) missense probably damaging 1.00
R2445:D130043K22Rik UTSW 13 24,857,036 (GRCm38) missense probably benign 0.04
R2568:D130043K22Rik UTSW 13 24,883,891 (GRCm38) missense probably damaging 0.97
R4160:D130043K22Rik UTSW 13 24,862,696 (GRCm38) missense probably benign 0.02
R4494:D130043K22Rik UTSW 13 24,871,356 (GRCm38) missense probably benign 0.16
R4732:D130043K22Rik UTSW 13 24,899,665 (GRCm38) missense probably damaging 1.00
R4733:D130043K22Rik UTSW 13 24,899,665 (GRCm38) missense probably damaging 1.00
R4782:D130043K22Rik UTSW 13 24,878,040 (GRCm38) missense probably damaging 1.00
R4799:D130043K22Rik UTSW 13 24,878,040 (GRCm38) missense probably damaging 1.00
R4864:D130043K22Rik UTSW 13 24,863,612 (GRCm38) missense probably damaging 1.00
R5155:D130043K22Rik UTSW 13 24,872,290 (GRCm38) missense probably damaging 1.00
R5240:D130043K22Rik UTSW 13 24,877,977 (GRCm38) missense probably damaging 1.00
R5383:D130043K22Rik UTSW 13 24,857,414 (GRCm38) missense probably benign 0.02
R5493:D130043K22Rik UTSW 13 24,863,603 (GRCm38) missense probably damaging 1.00
R6184:D130043K22Rik UTSW 13 24,885,591 (GRCm38) missense probably damaging 1.00
R6305:D130043K22Rik UTSW 13 24,885,685 (GRCm38) missense probably damaging 1.00
R6436:D130043K22Rik UTSW 13 24,877,935 (GRCm38) missense probably damaging 1.00
R6980:D130043K22Rik UTSW 13 24,864,781 (GRCm38) missense probably damaging 0.98
R7038:D130043K22Rik UTSW 13 24,893,408 (GRCm38) missense probably damaging 1.00
R7085:D130043K22Rik UTSW 13 24,872,302 (GRCm38) missense possibly damaging 0.95
R7147:D130043K22Rik UTSW 13 24,882,563 (GRCm38) missense probably benign 0.31
R7384:D130043K22Rik UTSW 13 24,882,605 (GRCm38) missense probably damaging 1.00
R7398:D130043K22Rik UTSW 13 24,893,377 (GRCm38) missense probably damaging 0.97
R7584:D130043K22Rik UTSW 13 24,872,370 (GRCm38) missense probably damaging 1.00
R7585:D130043K22Rik UTSW 13 24,885,585 (GRCm38) missense probably benign 0.01
R7588:D130043K22Rik UTSW 13 24,887,893 (GRCm38) missense probably damaging 0.99
R7610:D130043K22Rik UTSW 13 24,876,002 (GRCm38) missense probably benign 0.30
R7903:D130043K22Rik UTSW 13 24,876,012 (GRCm38) missense probably damaging 0.98
R7966:D130043K22Rik UTSW 13 24,893,423 (GRCm38) missense probably damaging 1.00
R8014:D130043K22Rik UTSW 13 24,856,702 (GRCm38) missense probably damaging 1.00
R8374:D130043K22Rik UTSW 13 24,857,979 (GRCm38) missense probably benign 0.07
R8543:D130043K22Rik UTSW 13 24,889,869 (GRCm38) missense probably benign 0.08
R8775:D130043K22Rik UTSW 13 24,856,999 (GRCm38) nonsense probably null
R8775-TAIL:D130043K22Rik UTSW 13 24,856,999 (GRCm38) nonsense probably null
R8806:D130043K22Rik UTSW 13 24,899,635 (GRCm38) missense probably benign 0.11
R8916:D130043K22Rik UTSW 13 24,872,271 (GRCm38) missense probably benign
R9209:D130043K22Rik UTSW 13 24,857,107 (GRCm38) missense possibly damaging 0.96
R9524:D130043K22Rik UTSW 13 24,887,893 (GRCm38) missense possibly damaging 0.89
R9743:D130043K22Rik UTSW 13 24,872,316 (GRCm38) missense probably damaging 0.97
Z1177:D130043K22Rik UTSW 13 24,872,248 (GRCm38) missense possibly damaging 0.79
Z1177:D130043K22Rik UTSW 13 24,856,834 (GRCm38) missense probably benign 0.39
Z1177:D130043K22Rik UTSW 13 24,856,709 (GRCm38) missense probably damaging 1.00
Z1177:D130043K22Rik UTSW 13 24,880,847 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16