Incidental Mutation 'R2265:Kir3dl1'
ID244119
Institutional Source Beutler Lab
Gene Symbol Kir3dl1
Ensembl Gene ENSMUSG00000031424
Gene Namekiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
SynonymsKirl1
MMRRC Submission 040265-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R2265 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location136517999-136534309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136525035 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 53 (R53G)
Ref Sequence ENSEMBL: ENSMUSP00000108729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113104] [ENSMUST00000113105] [ENSMUST00000113108]
Predicted Effect probably benign
Transcript: ENSMUST00000113104
SMART Domains Protein: ENSMUSP00000108728
Gene: ENSMUSG00000031424

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 34 125 1.03e0 SMART
IG_like 137 222 1.28e2 SMART
low complexity region 245 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113105
AA Change: R53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108729
Gene: ENSMUSG00000031424
AA Change: R53G

DomainStartEndE-ValueType
IG 34 116 7.7e-5 SMART
IG 127 218 1.03e0 SMART
IG_like 230 315 1.28e2 SMART
transmembrane domain 337 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113108
SMART Domains Protein: ENSMUSP00000108732
Gene: ENSMUSG00000057439

DomainStartEndE-ValueType
IG 34 116 1.25e-4 SMART
IG 127 218 4.04e0 SMART
IG_like 230 315 1.06e2 SMART
transmembrane domain 338 360 N/A INTRINSIC
Meta Mutation Damage Score 0.1252 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik A G X: 18,423,687 S179P possibly damaging Het
A830018L16Rik T C 1: 11,972,104 probably null Het
Aadac T A 3: 60,037,316 D136E probably damaging Het
Abca16 A G 7: 120,431,160 D165G probably benign Het
Adam24 T A 8: 40,680,071 S193T possibly damaging Het
Adra2b T C 2: 127,363,871 S103P probably damaging Het
Agrn C T 4: 156,179,218 G173R probably damaging Het
Alg11 T A 8: 22,065,614 V255E probably benign Het
Aox1 C A 1: 58,081,520 D857E probably damaging Het
Apob T C 12: 8,015,475 F4115S possibly damaging Het
Bdkrb2 A G 12: 105,592,225 T242A probably benign Het
Cdca7 T C 2: 72,482,490 L190P probably benign Het
Cenpe A G 3: 135,261,636 T2180A probably benign Het
Cep41 T A 6: 30,660,916 I126F possibly damaging Het
Col16a1 C A 4: 130,052,918 H111Q probably benign Het
Cops3 T C 11: 59,827,890 T193A probably benign Het
Dbr1 G A 9: 99,579,410 V153M probably damaging Het
Ddx4 A G 13: 112,621,276 Y290H probably benign Het
Dgkb T A 12: 38,190,108 S461R possibly damaging Het
Dnajc28 T C 16: 91,616,312 N372S probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,585,549 probably benign Het
Dock3 C A 9: 106,941,326 V1190F probably damaging Het
Exosc1 A G 19: 41,931,418 S54P probably damaging Het
Fbxw22 C T 9: 109,383,994 R295K probably benign Het
Foxo1 T C 3: 52,345,912 S499P probably benign Het
Heatr5a T C 12: 51,893,745 D1444G possibly damaging Het
Hspa2 T G 12: 76,406,188 I552S probably benign Het
Imp4 T A 1: 34,443,847 I173N probably damaging Het
Itgal A G 7: 127,306,701 I352V possibly damaging Het
Kcnh6 G A 11: 106,033,817 R816Q probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 probably benign Het
Kcnip3 G T 2: 127,465,061 A173D probably benign Het
Klhl31 A G 9: 77,650,158 D52G possibly damaging Het
Klk1b21 T C 7: 44,104,439 I49T possibly damaging Het
Lama2 T A 10: 26,992,936 I2838F probably damaging Het
Lilrb4a T A 10: 51,491,537 Y58* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Mpdz A G 4: 81,383,391 S266P probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mroh7 T C 4: 106,720,927 N185D probably benign Het
Mybphl A G 3: 108,365,001 E2G probably damaging Het
Mycbp2 T C 14: 103,262,749 D937G probably benign Het
Myo18b A G 5: 112,782,673 M1799T probably damaging Het
Nr4a2 T A 2: 57,112,006 D145V possibly damaging Het
Ntmt1 C A 2: 30,820,460 N58K probably benign Het
Olfr1066 T C 2: 86,456,214 Y19C possibly damaging Het
Olfr1278 A G 2: 111,293,179 T304A probably benign Het
Olfr1330 A T 4: 118,893,874 R264W probably damaging Het
Olfr164 A G 16: 19,286,555 Y63H probably damaging Het
Olfr583 G A 7: 103,052,137 V280I probably benign Het
Olfr659 T C 7: 104,670,860 F53L probably benign Het
Ovch2 A T 7: 107,784,575 M521K probably damaging Het
P2ry13 T C 3: 59,210,028 M110V probably damaging Het
P2ry14 T C 3: 59,115,571 N165S probably damaging Het
Pcdhb19 A T 18: 37,497,683 H177L probably damaging Het
Phf8 T C X: 151,572,601 L520S possibly damaging Het
Pjvk T G 2: 76,657,453 S230A possibly damaging Het
Plch2 T C 4: 154,993,004 E423G probably benign Het
Rad9b T C 5: 122,351,342 Y41C probably damaging Het
Ranbp3l A T 15: 9,057,113 I286F probably damaging Het
Rtel1 T A 2: 181,354,368 V739D probably damaging Het
Slc35a3 T C 3: 116,673,636 K325E possibly damaging Het
Spag17 C A 3: 100,061,866 probably null Het
Spg11 A T 2: 122,108,307 C389S possibly damaging Het
Srsf4 T C 4: 131,897,682 V130A probably damaging Het
Taar8b T C 10: 24,091,372 N308S probably damaging Het
Tas2r117 T A 6: 132,803,225 C109S probably benign Het
Tlr5 T A 1: 182,975,035 S635T possibly damaging Het
Ttc21a G T 9: 119,959,008 C833F possibly damaging Het
Vash2 T C 1: 190,950,213 N347D probably damaging Het
Vcp G A 4: 42,980,833 A759V possibly damaging Het
Vmn2r18 T C 5: 151,586,662 E82G probably damaging Het
Vps13c T C 9: 67,920,947 V1461A possibly damaging Het
Zfp616 T C 11: 74,085,463 Y853H possibly damaging Het
Other mutations in Kir3dl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Kir3dl1 APN X 136525162 missense probably damaging 1.00
IGL01137:Kir3dl1 APN X 136526611 missense probably damaging 1.00
R0626:Kir3dl1 UTSW X 136533845 splice site probably null
R2268:Kir3dl1 UTSW X 136525035 missense probably benign
R5725:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
R5739:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
R5741:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACCTCTCCCATTAGAACAGGGATC -3'
(R):5'- CAGAGGCTCACTATGTGCTGAC -3'

Sequencing Primer
(F):5'- GAACAGGGATCGTTTAATTCACAG -3'
(R):5'- GAGGCTCACTATGTGCTGACAATAC -3'
Posted On2014-10-16