Incidental Mutation 'R2568:D130043K22Rik'
ID 254651
Institutional Source Beutler Lab
Gene Symbol D130043K22Rik
Ensembl Gene ENSMUSG00000006711
Gene Name RIKEN cDNA D130043K22 gene
Synonyms Kiaa0319
MMRRC Submission 040427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2568 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 25029118-25085253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25067874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 870 (T870M)
Ref Sequence ENSEMBL: ENSMUSP00000006893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006893] [ENSMUST00000141572]
AlphaFold Q5SZV5
Predicted Effect probably damaging
Transcript: ENSMUST00000006893
AA Change: T870M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006893
Gene: ENSMUSG00000006711
AA Change: T870M

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
SMART Domains Protein: ENSMUSP00000116004
Gene: ENSMUSG00000006711

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,161 (GRCm39) probably benign Het
Abca13 A T 11: 9,283,310 (GRCm39) N3244I probably benign Het
Adgrf5 A G 17: 43,748,562 (GRCm39) T219A probably damaging Het
Adgrg5 A T 8: 95,660,649 (GRCm39) N92I probably damaging Het
Agt A C 8: 125,283,694 (GRCm39) V475G probably damaging Het
Akap6 A G 12: 52,934,061 (GRCm39) K518E possibly damaging Het
Apoh T G 11: 108,295,697 (GRCm39) D133E probably benign Het
Axdnd1 T A 1: 156,220,319 (GRCm39) M234L possibly damaging Het
Cacna1d A G 14: 29,804,468 (GRCm39) I1335T probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 (GRCm39) K444* probably null Het
Clasp2 A G 9: 113,707,832 (GRCm39) I614M probably benign Het
Col6a4 A T 9: 105,940,275 (GRCm39) D1218E possibly damaging Het
Cplane1 T C 15: 8,230,753 (GRCm39) V1010A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dagla C A 19: 10,225,516 (GRCm39) A883S probably benign Het
Dhx30 A G 9: 109,926,263 (GRCm39) V87A probably damaging Het
Dtx1 C A 5: 120,848,249 (GRCm39) V44L possibly damaging Het
Ecm2 T A 13: 49,683,605 (GRCm39) S528T possibly damaging Het
Eeig2 T A 3: 108,886,164 (GRCm39) N356I probably benign Het
Egfem1 A T 3: 29,637,080 (GRCm39) N172I probably damaging Het
Fam13a T G 6: 58,912,594 (GRCm39) R686S probably damaging Het
Fam243 A G 16: 92,118,207 (GRCm39) L27P probably damaging Het
Fmo1 T A 1: 162,663,828 (GRCm39) I234L probably benign Het
Foxj2 C T 6: 122,805,331 (GRCm39) R68W probably damaging Het
Foxo6 A T 4: 120,125,961 (GRCm39) M278K probably benign Het
Fsip2 A G 2: 82,820,775 (GRCm39) S5503G probably benign Het
Gdf5 C G 2: 155,784,010 (GRCm39) R100G probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Klhl29 A G 12: 5,141,350 (GRCm39) S545P probably damaging Het
Krt87 G T 15: 101,385,708 (GRCm39) R296S possibly damaging Het
Llgl1 T G 11: 60,599,638 (GRCm39) S509R probably damaging Het
Lmod1 A T 1: 135,291,702 (GRCm39) K186* probably null Het
Lrpprc C T 17: 85,034,077 (GRCm39) A973T probably damaging Het
Marco T C 1: 120,422,514 (GRCm39) H49R possibly damaging Het
Mylk4 T C 13: 32,906,001 (GRCm39) N394S probably null Het
Myo5a A G 9: 75,030,322 (GRCm39) Y147C probably damaging Het
Myo5a T C 9: 75,059,179 (GRCm39) V469A probably damaging Het
Myot A G 18: 44,470,283 (GRCm39) T87A probably benign Het
Nav2 A G 7: 49,247,312 (GRCm39) H2154R probably damaging Het
Nek10 A G 14: 14,999,112 (GRCm38) E1037G possibly damaging Het
Or1j13 T C 2: 36,369,986 (GRCm39) D52G probably damaging Het
Or52e4 A G 7: 104,705,878 (GRCm39) T142A probably benign Het
Or5k17 A G 16: 58,746,286 (GRCm39) V216A probably benign Het
Pitrm1 G T 13: 6,625,128 (GRCm39) V869F probably benign Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Prdx1 T G 4: 116,550,997 (GRCm39) I156S probably benign Het
Rbks T A 5: 31,823,096 (GRCm39) T107S probably damaging Het
Ryr3 G A 2: 112,506,219 (GRCm39) R3468W probably damaging Het
Scn1a C T 2: 66,103,813 (GRCm39) D1805N probably damaging Het
Sirpa T C 2: 129,457,568 (GRCm39) V214A probably benign Het
Slc35c1 T C 2: 92,289,225 (GRCm39) N94D probably benign Het
Sorbs2 A T 8: 46,248,407 (GRCm39) K553* probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thg1l A G 11: 45,842,392 (GRCm39) V142A probably benign Het
Tiparp T A 3: 65,460,551 (GRCm39) Y513* probably null Het
Tmc6 A G 11: 117,663,646 (GRCm39) V522A probably benign Het
Trim39 T A 17: 36,580,056 (GRCm39) probably benign Het
Trrap G A 5: 144,780,179 (GRCm39) probably null Het
Tulp3 C T 6: 128,304,601 (GRCm39) V218I probably benign Het
Vmn1r38 T A 6: 66,753,955 (GRCm39) I54F probably benign Het
Vmn2r23 T A 6: 123,719,147 (GRCm39) Y833* probably null Het
Zfp810 A T 9: 22,190,534 (GRCm39) S125T probably benign Het
Other mutations in D130043K22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:D130043K22Rik APN 13 25,051,157 (GRCm39) missense probably damaging 1.00
IGL01114:D130043K22Rik APN 13 25,041,139 (GRCm39) missense probably damaging 0.99
IGL01412:D130043K22Rik APN 13 25,071,843 (GRCm39) missense probably damaging 1.00
IGL01542:D130043K22Rik APN 13 25,060,020 (GRCm39) splice site probably null
IGL01615:D130043K22Rik APN 13 25,083,779 (GRCm39) missense probably damaging 1.00
IGL01705:D130043K22Rik APN 13 25,041,924 (GRCm39) missense probably benign 0.00
IGL02220:D130043K22Rik APN 13 25,067,738 (GRCm39) missense possibly damaging 0.95
IGL02229:D130043K22Rik APN 13 25,059,907 (GRCm39) missense probably damaging 1.00
IGL02576:D130043K22Rik APN 13 25,040,853 (GRCm39) missense possibly damaging 0.74
IGL03038:D130043K22Rik APN 13 25,063,602 (GRCm39) missense probably damaging 1.00
IGL03117:D130043K22Rik APN 13 25,073,825 (GRCm39) missense probably damaging 1.00
IGL03014:D130043K22Rik UTSW 13 25,042,075 (GRCm39) missense possibly damaging 0.88
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0019:D130043K22Rik UTSW 13 25,064,795 (GRCm39) missense probably damaging 1.00
R0020:D130043K22Rik UTSW 13 25,038,475 (GRCm39) utr 5 prime probably benign
R0172:D130043K22Rik UTSW 13 25,056,389 (GRCm39) missense probably benign 0.16
R0276:D130043K22Rik UTSW 13 25,042,028 (GRCm39) missense possibly damaging 0.92
R0304:D130043K22Rik UTSW 13 25,048,798 (GRCm39) missense probably benign 0.07
R0335:D130043K22Rik UTSW 13 25,071,860 (GRCm39) missense probably damaging 0.98
R0744:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0833:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R0836:D130043K22Rik UTSW 13 25,047,563 (GRCm39) splice site probably benign
R1270:D130043K22Rik UTSW 13 25,041,321 (GRCm39) missense probably benign 0.00
R1433:D130043K22Rik UTSW 13 25,055,324 (GRCm39) missense probably damaging 1.00
R1682:D130043K22Rik UTSW 13 25,066,539 (GRCm39) missense probably damaging 1.00
R1772:D130043K22Rik UTSW 13 25,059,982 (GRCm39) missense probably damaging 1.00
R1773:D130043K22Rik UTSW 13 25,066,585 (GRCm39) missense possibly damaging 0.80
R1800:D130043K22Rik UTSW 13 25,067,877 (GRCm39) missense probably damaging 1.00
R1956:D130043K22Rik UTSW 13 25,069,578 (GRCm39) missense probably damaging 1.00
R2255:D130043K22Rik UTSW 13 25,040,894 (GRCm39) missense probably damaging 1.00
R2445:D130043K22Rik UTSW 13 25,041,019 (GRCm39) missense probably benign 0.04
R4160:D130043K22Rik UTSW 13 25,046,679 (GRCm39) missense probably benign 0.02
R4494:D130043K22Rik UTSW 13 25,055,339 (GRCm39) missense probably benign 0.16
R4732:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4733:D130043K22Rik UTSW 13 25,083,648 (GRCm39) missense probably damaging 1.00
R4782:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4799:D130043K22Rik UTSW 13 25,062,023 (GRCm39) missense probably damaging 1.00
R4864:D130043K22Rik UTSW 13 25,047,595 (GRCm39) missense probably damaging 1.00
R5155:D130043K22Rik UTSW 13 25,056,273 (GRCm39) missense probably damaging 1.00
R5240:D130043K22Rik UTSW 13 25,061,960 (GRCm39) missense probably damaging 1.00
R5383:D130043K22Rik UTSW 13 25,041,397 (GRCm39) missense probably benign 0.02
R5493:D130043K22Rik UTSW 13 25,047,586 (GRCm39) missense probably damaging 1.00
R6184:D130043K22Rik UTSW 13 25,069,574 (GRCm39) missense probably damaging 1.00
R6305:D130043K22Rik UTSW 13 25,069,668 (GRCm39) missense probably damaging 1.00
R6436:D130043K22Rik UTSW 13 25,061,918 (GRCm39) missense probably damaging 1.00
R6980:D130043K22Rik UTSW 13 25,048,764 (GRCm39) missense probably damaging 0.98
R7038:D130043K22Rik UTSW 13 25,077,391 (GRCm39) missense probably damaging 1.00
R7085:D130043K22Rik UTSW 13 25,056,285 (GRCm39) missense possibly damaging 0.95
R7147:D130043K22Rik UTSW 13 25,066,546 (GRCm39) missense probably benign 0.31
R7384:D130043K22Rik UTSW 13 25,066,588 (GRCm39) missense probably damaging 1.00
R7398:D130043K22Rik UTSW 13 25,077,360 (GRCm39) missense probably damaging 0.97
R7584:D130043K22Rik UTSW 13 25,056,353 (GRCm39) missense probably damaging 1.00
R7585:D130043K22Rik UTSW 13 25,069,568 (GRCm39) missense probably benign 0.01
R7588:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense probably damaging 0.99
R7610:D130043K22Rik UTSW 13 25,059,985 (GRCm39) missense probably benign 0.30
R7903:D130043K22Rik UTSW 13 25,059,995 (GRCm39) missense probably damaging 0.98
R7966:D130043K22Rik UTSW 13 25,077,406 (GRCm39) missense probably damaging 1.00
R8014:D130043K22Rik UTSW 13 25,040,685 (GRCm39) missense probably damaging 1.00
R8374:D130043K22Rik UTSW 13 25,041,962 (GRCm39) missense probably benign 0.07
R8543:D130043K22Rik UTSW 13 25,073,852 (GRCm39) missense probably benign 0.08
R8775:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8775-TAIL:D130043K22Rik UTSW 13 25,040,982 (GRCm39) nonsense probably null
R8806:D130043K22Rik UTSW 13 25,083,618 (GRCm39) missense probably benign 0.11
R8916:D130043K22Rik UTSW 13 25,056,254 (GRCm39) missense probably benign
R9209:D130043K22Rik UTSW 13 25,041,090 (GRCm39) missense possibly damaging 0.96
R9524:D130043K22Rik UTSW 13 25,071,876 (GRCm39) missense possibly damaging 0.89
R9743:D130043K22Rik UTSW 13 25,056,299 (GRCm39) missense probably damaging 0.97
Z1177:D130043K22Rik UTSW 13 25,056,231 (GRCm39) missense possibly damaging 0.79
Z1177:D130043K22Rik UTSW 13 25,040,817 (GRCm39) missense probably benign 0.39
Z1177:D130043K22Rik UTSW 13 25,040,692 (GRCm39) missense probably damaging 1.00
Z1177:D130043K22Rik UTSW 13 25,064,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGAAAATCCTGTGTCCTCTCC -3'
(R):5'- AGTCCAGACAACTGTTTGGC -3'

Sequencing Primer
(F):5'- CCCTCAGACCCCAAGAAGGATG -3'
(R):5'- TGTTTGGCTGATGAAAATTACAGAGG -3'
Posted On 2014-12-04