Incidental Mutation 'R7058:Ildr1'
ID 548093
Institutional Source Beutler Lab
Gene Symbol Ildr1
Ensembl Gene ENSMUSG00000022900
Gene Name immunoglobulin-like domain containing receptor 1
Synonyms
MMRRC Submission 045155-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7058 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 36514340-36547166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36542730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 421 (S421G)
Ref Sequence ENSEMBL: ENSMUSP00000023617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023617] [ENSMUST00000089618] [ENSMUST00000119464]
AlphaFold Q8CBR1
Predicted Effect probably benign
Transcript: ENSMUST00000023617
AA Change: S421G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: S421G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 213 3e-27 PFAM
low complexity region 255 268 N/A INTRINSIC
low complexity region 424 472 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089618
AA Change: S377G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: S377G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 214 2.8e-27 PFAM
low complexity region 380 428 N/A INTRINSIC
low complexity region 437 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119464
AA Change: S421G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: S421G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 214 3e-27 PFAM
low complexity region 255 268 N/A INTRINSIC
low complexity region 424 472 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (87/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,554 (GRCm39) I419T possibly damaging Het
Afap1 T C 5: 36,119,604 (GRCm39) V294A probably benign Het
Amotl1 T A 9: 14,486,532 (GRCm39) Q454L possibly damaging Het
Ap2a1 T C 7: 44,550,215 (GRCm39) S961G probably damaging Het
Asxl3 A G 18: 22,650,731 (GRCm39) K907E probably damaging Het
BC028528 A T 3: 95,792,323 (GRCm39) L137I possibly damaging Het
Cand1 A T 10: 119,047,659 (GRCm39) N610K probably benign Het
Cat A G 2: 103,304,698 (GRCm39) I109T probably benign Het
Ccdc18 T C 5: 108,341,664 (GRCm39) V853A probably benign Het
Chd4 C A 6: 125,085,405 (GRCm39) D805E possibly damaging Het
Cnih1 A C 14: 47,017,652 (GRCm39) F77V probably damaging Het
Cntd1 A T 11: 101,178,252 (GRCm39) I284F probably damaging Het
Col6a3 C A 1: 90,755,759 (GRCm39) E177* probably null Het
Cpxm2 T A 7: 131,745,408 (GRCm39) D139V probably benign Het
Cyp1a2 G T 9: 57,584,525 (GRCm39) R510S probably damaging Het
D2hgdh T C 1: 93,763,096 (GRCm39) S294P probably damaging Het
Dchs1 A G 7: 105,406,228 (GRCm39) C2335R probably benign Het
Disc1 G T 8: 125,977,724 (GRCm39) C719F probably damaging Het
Dnah14 A C 1: 181,525,614 (GRCm39) D2180A probably benign Het
Dop1b G A 16: 93,573,878 (GRCm39) R1582Q probably benign Het
Dsg2 A T 18: 20,725,332 (GRCm39) H481L probably benign Het
Epha6 A G 16: 59,503,013 (GRCm39) S965P probably damaging Het
Esrrg G T 1: 187,882,503 (GRCm39) L253F probably damaging Het
Exoc6b T C 6: 84,831,704 (GRCm39) K438R probably damaging Het
Fam98a C A 17: 75,845,384 (GRCm39) R454L unknown Het
Fam98c A T 7: 28,855,308 (GRCm39) probably null Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Galnt13 A G 2: 54,988,587 (GRCm39) T470A probably damaging Het
Ggt7 A T 2: 155,345,015 (GRCm39) probably null Het
Golim4 T C 3: 75,785,957 (GRCm39) E606G probably damaging Het
Gpd2 G A 2: 57,197,112 (GRCm39) probably null Het
Grin2b T C 6: 135,757,304 (GRCm39) M386V probably damaging Het
Hfm1 A T 5: 107,059,306 (GRCm39) S239T probably benign Het
Hmcn1 G A 1: 150,649,641 (GRCm39) T615I probably benign Het
Hook2 G A 8: 85,724,040 (GRCm39) E446K possibly damaging Het
Hsd3b1 C T 3: 98,765,131 (GRCm39) probably null Het
Igsf9b A G 9: 27,234,150 (GRCm39) Y421C probably damaging Het
Il21 A G 3: 37,286,629 (GRCm39) L29P probably damaging Het
Kat2b C A 17: 53,972,894 (GRCm39) T736K probably benign Het
Kcng1 A G 2: 168,104,529 (GRCm39) V439A probably damaging Het
Kif21a A T 15: 90,833,106 (GRCm39) probably null Het
Lat A G 7: 125,968,318 (GRCm39) probably null Het
Mastl T A 2: 23,023,425 (GRCm39) K433* probably null Het
Mettl2 A G 11: 105,019,719 (GRCm39) R119G probably benign Het
Mia2 C T 12: 59,231,021 (GRCm39) P1223L possibly damaging Het
Mkrn2os G T 6: 115,563,635 (GRCm39) D133E probably benign Het
Mslnl A G 17: 25,962,186 (GRCm39) T195A probably benign Het
Muc16 T G 9: 18,551,051 (GRCm39) T5081P probably benign Het
Mylpf G C 7: 126,813,139 (GRCm39) R110P probably damaging Het
Myo19 G T 11: 84,798,194 (GRCm39) C738F possibly damaging Het
Nat8f4 T A 6: 85,878,271 (GRCm39) N84I possibly damaging Het
Nol8 C T 13: 49,829,862 (GRCm39) R1104C probably damaging Het
Notch1 A T 2: 26,353,830 (GRCm39) D1932E probably benign Het
Nsun3 A T 16: 62,596,663 (GRCm39) C152S possibly damaging Het
Opcml G A 9: 28,586,507 (GRCm39) W75* probably null Het
Or14j10 A G 17: 37,934,597 (GRCm39) F310L probably benign Het
Pcdh7 G A 5: 57,879,582 (GRCm39) E1046K probably damaging Het
Pcdhb9 T A 18: 37,536,334 (GRCm39) V776D probably benign Het
Pla2g4a A G 1: 149,727,103 (GRCm39) L551S probably damaging Het
Plaa G A 4: 94,458,060 (GRCm39) Q637* probably null Het
Plekhh1 A T 12: 79,122,204 (GRCm39) E1099V probably damaging Het
Ppp4r1 A T 17: 66,136,495 (GRCm39) N551Y probably benign Het
R3hdm2 T C 10: 127,320,382 (GRCm39) V554A probably damaging Het
Rab44 A G 17: 29,357,150 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasgrf2 T C 13: 92,034,521 (GRCm39) T1119A probably damaging Het
Rims2 A G 15: 39,449,044 (GRCm39) D1194G probably damaging Het
Scarb1 A T 5: 125,374,294 (GRCm39) C280S probably damaging Het
Sde2 T C 1: 180,693,827 (GRCm39) F439S probably damaging Het
Setd5 T C 6: 113,092,532 (GRCm39) I304T probably benign Het
Sipa1l1 A G 12: 82,449,896 (GRCm39) E1106G probably benign Het
Sis T G 3: 72,810,940 (GRCm39) S1694R probably damaging Het
Smad9 T A 3: 54,693,614 (GRCm39) F181Y probably benign Het
Smg1 A G 7: 117,797,502 (GRCm39) probably benign Het
Sspo T C 6: 48,425,516 (GRCm39) Y46H probably damaging Het
Tdrd12 A G 7: 35,177,534 (GRCm39) M940T unknown Het
Tmem44 G T 16: 30,366,213 (GRCm39) T71K possibly damaging Het
Tmf1 T A 6: 97,133,911 (GRCm39) E1009V probably damaging Het
Ttc39a C T 4: 109,288,763 (GRCm39) R288W probably damaging Het
Ttc9c G A 19: 8,796,191 (GRCm39) probably benign Het
Usp28 T A 9: 48,950,456 (GRCm39) Y634N probably damaging Het
Vmn1r211 C T 13: 23,036,063 (GRCm39) M201I probably benign Het
Vmn2r54 T A 7: 12,349,722 (GRCm39) Q620L possibly damaging Het
Vps13c T C 9: 67,831,110 (GRCm39) L1580P probably benign Het
Vrk3 C A 7: 44,417,890 (GRCm39) F308L probably damaging Het
Zdbf2 T A 1: 63,346,563 (GRCm39) H1647Q possibly damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign Het
Other mutations in Ildr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Ildr1 APN 16 36,542,712 (GRCm39) missense probably damaging 1.00
IGL02505:Ildr1 APN 16 36,536,526 (GRCm39) missense probably damaging 1.00
R0295:Ildr1 UTSW 16 36,529,839 (GRCm39) critical splice acceptor site probably null
R1649:Ildr1 UTSW 16 36,528,681 (GRCm39) missense probably damaging 1.00
R1728:Ildr1 UTSW 16 36,528,698 (GRCm39) missense possibly damaging 0.80
R1990:Ildr1 UTSW 16 36,536,568 (GRCm39) missense probably damaging 0.99
R2020:Ildr1 UTSW 16 36,545,903 (GRCm39) missense probably damaging 0.97
R2110:Ildr1 UTSW 16 36,542,341 (GRCm39) missense probably damaging 1.00
R2111:Ildr1 UTSW 16 36,542,341 (GRCm39) missense probably damaging 1.00
R4755:Ildr1 UTSW 16 36,542,383 (GRCm39) missense probably benign 0.00
R4798:Ildr1 UTSW 16 36,542,917 (GRCm39) missense possibly damaging 0.66
R4973:Ildr1 UTSW 16 36,528,660 (GRCm39) missense probably benign 0.10
R5014:Ildr1 UTSW 16 36,541,921 (GRCm39) missense probably damaging 0.98
R5426:Ildr1 UTSW 16 36,529,981 (GRCm39) missense probably damaging 1.00
R5957:Ildr1 UTSW 16 36,545,896 (GRCm39) makesense probably null
R7646:Ildr1 UTSW 16 36,542,281 (GRCm39) missense possibly damaging 0.78
R8245:Ildr1 UTSW 16 36,529,883 (GRCm39) missense probably damaging 1.00
R8392:Ildr1 UTSW 16 36,542,721 (GRCm39) missense probably damaging 1.00
R8392:Ildr1 UTSW 16 36,542,720 (GRCm39) nonsense probably null
R8748:Ildr1 UTSW 16 36,542,734 (GRCm39) missense probably benign 0.18
R8791:Ildr1 UTSW 16 36,528,762 (GRCm39) missense probably damaging 0.96
R8854:Ildr1 UTSW 16 36,535,910 (GRCm39) missense probably damaging 1.00
R9108:Ildr1 UTSW 16 36,535,919 (GRCm39) missense probably benign 0.13
R9252:Ildr1 UTSW 16 36,536,574 (GRCm39) missense probably damaging 1.00
R9372:Ildr1 UTSW 16 36,542,721 (GRCm39) missense probably damaging 1.00
R9434:Ildr1 UTSW 16 36,529,862 (GRCm39) missense probably damaging 1.00
R9642:Ildr1 UTSW 16 36,536,490 (GRCm39) missense probably damaging 1.00
R9681:Ildr1 UTSW 16 36,528,749 (GRCm39) missense probably damaging 1.00
R9707:Ildr1 UTSW 16 36,529,892 (GRCm39) missense probably damaging 1.00
R9777:Ildr1 UTSW 16 36,528,659 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- GACACTGCGATCTGAGTGAG -3'
(R):5'- GCCAGTTTGGAGACTGTGAG -3'

Sequencing Primer
(F):5'- ATCTGAGTGAGCGCCCGAG -3'
(R):5'- TGGAGACTGTGAGCGGCG -3'
Posted On 2019-05-13