Incidental Mutation 'R2111:Ildr1'
ID 232598
Institutional Source Beutler Lab
Gene Symbol Ildr1
Ensembl Gene ENSMUSG00000022900
Gene Name immunoglobulin-like domain containing receptor 1
Synonyms
MMRRC Submission 040115-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2111 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 36693978-36726804 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36721979 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 247 (E247G)
Ref Sequence ENSEMBL: ENSMUSP00000087045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023617] [ENSMUST00000089618] [ENSMUST00000119464]
AlphaFold Q8CBR1
Predicted Effect probably damaging
Transcript: ENSMUST00000023617
AA Change: E291G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: E291G

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 damaging
Transcript: ENSMUST00000089618
AA Change: E247G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: E247G

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 damaging
Transcript: ENSMUST00000119464
AA Change: E291G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: E291G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153802
Meta Mutation Damage Score 0.1562 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,407,589 (GRCm38) probably benign Het
Abca2 A T 2: 25,437,505 (GRCm38) I669F possibly damaging Het
Adam9 C T 8: 24,982,126 (GRCm38) probably benign Het
Adprhl1 A G 8: 13,248,694 (GRCm38) Y79H probably damaging Het
Akp3 A T 1: 87,126,885 (GRCm38) probably null Het
Alpk2 T C 18: 65,349,774 (GRCm38) S388G probably benign Het
Amph G A 13: 19,116,266 (GRCm38) probably benign Het
Arr3 T A X: 100,614,641 (GRCm38) F269L possibly damaging Het
Atp2a2 A G 5: 122,459,546 (GRCm38) F808S probably damaging Het
Baz1a T A 12: 54,911,385 (GRCm38) N1027I probably damaging Het
C2cd4c G T 10: 79,612,421 (GRCm38) H297Q probably damaging Het
Calr3 T A 8: 72,427,268 (GRCm38) D160V probably damaging Het
Cdc42ep1 C T 15: 78,847,492 (GRCm38) R46C probably damaging Het
Cdh23 G T 10: 60,305,583 (GRCm38) F3127L probably damaging Het
Cfhr4 T A 1: 139,774,679 (GRCm38) probably benign Het
Cps1 T A 1: 67,176,980 (GRCm38) D821E probably benign Het
Cyp2e1 C A 7: 140,773,634 (GRCm38) T328K probably damaging Het
Dcp1a T C 14: 30,519,370 (GRCm38) V379A probably benign Het
Dst T C 1: 34,169,178 (GRCm38) S737P probably damaging Het
Dtx2 C T 5: 136,030,577 (GRCm38) S493F probably damaging Het
Eci2 A G 13: 34,990,716 (GRCm38) probably null Het
Ercc6l2 A G 13: 63,834,749 (GRCm38) T126A probably damaging Het
Fgf6 T C 6: 127,015,760 (GRCm38) S59P probably damaging Het
Fmnl2 A G 2: 53,105,537 (GRCm38) E424G probably damaging Het
Gapvd1 G T 2: 34,684,317 (GRCm38) A1256D probably benign Het
Gcfc2 C A 6: 81,923,778 (GRCm38) D24E probably benign Het
Gigyf2 A G 1: 87,440,730 (GRCm38) H1044R probably damaging Het
Gk2 T C 5: 97,456,305 (GRCm38) I225V probably benign Het
Gm3944 C A 12: 18,853,894 (GRCm38) S8* probably null Het
Gnl3l A G X: 150,997,294 (GRCm38) S217P probably damaging Het
Gpr156 A G 16: 37,978,751 (GRCm38) D109G probably benign Het
Hoxd1 A T 2: 74,763,366 (GRCm38) T89S probably benign Het
Ift172 G A 5: 31,286,079 (GRCm38) T112M probably benign Het
Igkv1-115 C A 6: 68,161,629 (GRCm38) S72* probably null Het
Insr A G 8: 3,169,748 (GRCm38) S925P probably benign Het
Itpr1 T G 6: 108,378,309 (GRCm38) probably benign Het
Khdrbs3 C T 15: 69,024,824 (GRCm38) T111I probably benign Het
Mageb3 A G 2: 121,954,825 (GRCm38) probably null Het
Mcf2l A T 8: 13,001,867 (GRCm38) K433N probably damaging Het
Mdn1 A G 4: 32,700,409 (GRCm38) E1456G probably damaging Het
Mta1 C T 12: 113,131,628 (GRCm38) T467I probably damaging Het
Mtr A T 13: 12,244,601 (GRCm38) I196N possibly damaging Het
Mtus1 G T 8: 41,022,571 (GRCm38) P819T probably damaging Het
Myh1 G A 11: 67,214,620 (GRCm38) D1079N possibly damaging Het
Nav1 C T 1: 135,449,004 (GRCm38) R1694Q probably damaging Het
Neb A G 2: 52,284,263 (GRCm38) I1528T probably benign Het
Nek1 T A 8: 61,124,326 (GRCm38) probably null Het
Nes A G 3: 87,977,311 (GRCm38) E915G probably benign Het
Nlrp4f T C 13: 65,199,353 (GRCm38) I30M probably benign Het
Nup153 A G 13: 46,683,928 (GRCm38) S1273P probably benign Het
Nup155 A G 15: 8,121,467 (GRCm38) I334V probably benign Het
Or10j2 A T 1: 173,270,312 (GRCm38) M46L probably benign Het
Or1e1f A G 11: 73,964,914 (GRCm38) Y102C probably damaging Het
Or5b3 G A 19: 13,410,943 (GRCm38) A125T probably damaging Het
Or5d41 A G 2: 88,224,474 (GRCm38) V186A possibly damaging Het
Or6d13 T C 6: 116,540,650 (GRCm38) Y66H possibly damaging Het
Or8b46 T A 9: 38,539,280 (GRCm38) N128K probably benign Het
Or8k38 G T 2: 86,658,437 (GRCm38) T7K probably damaging Het
Parn G A 16: 13,603,069 (GRCm38) S473L probably damaging Het
Pcnt T C 10: 76,420,526 (GRCm38) K627E probably damaging Het
Pja2 T A 17: 64,290,036 (GRCm38) D553V probably damaging Het
Prune2 T C 19: 17,208,238 (GRCm38) F3004L probably damaging Het
Rasgrp3 T C 17: 75,500,758 (GRCm38) probably null Het
Rdh13 A G 7: 4,445,483 (GRCm38) V10A probably benign Het
Rimbp2 T C 5: 128,773,501 (GRCm38) Y906C probably damaging Het
Ripor1 T C 8: 105,614,712 (GRCm38) F59S probably damaging Het
Rnf185 T C 11: 3,432,393 (GRCm38) probably benign Het
Runx3 T C 4: 135,155,316 (GRCm38) V107A probably damaging Het
Scn3b T C 9: 40,282,445 (GRCm38) V156A probably benign Het
Serpina3a G A 12: 104,116,222 (GRCm38) A85T probably damaging Het
Slc12a7 C T 13: 73,785,155 (GRCm38) R111* probably null Het
Slc5a5 A T 8: 70,889,751 (GRCm38) probably null Het
Snx13 A T 12: 35,138,085 (GRCm38) L787F probably damaging Het
Spef2 A T 15: 9,589,573 (GRCm38) M1535K probably damaging Het
Sphkap T G 1: 83,275,881 (GRCm38) K1382N probably benign Het
Tagap1 A G 17: 6,956,860 (GRCm38) S146P probably benign Het
Tagln3 A G 16: 45,711,594 (GRCm38) Y192H probably damaging Het
Tbc1d15 A C 10: 115,240,914 (GRCm38) S22A possibly damaging Het
Tbc1d31 A G 15: 57,932,644 (GRCm38) E211G probably benign Het
Tmod3 A G 9: 75,509,363 (GRCm38) V229A probably damaging Het
Ubr2 A G 17: 46,963,145 (GRCm38) probably null Het
Ugt2b36 T C 5: 87,092,241 (GRCm38) E95G probably benign Het
Unc45b G A 11: 82,911,689 (GRCm38) A4T probably benign Het
Usp40 A G 1: 87,950,214 (GRCm38) I1117T probably benign Het
Vcan T A 13: 89,693,303 (GRCm38) D414V probably damaging Het
Xrn1 C A 9: 96,039,832 (GRCm38) H1433N probably benign Het
Zfp353-ps T A 8: 42,082,968 (GRCm38) noncoding transcript Het
Zfp74 G A 7: 29,935,018 (GRCm38) Q422* probably null Het
Zmym3 A T X: 101,407,387 (GRCm38) V1208D probably damaging Het
Other mutations in Ildr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Ildr1 APN 16 36,722,350 (GRCm38) missense probably damaging 1.00
IGL02505:Ildr1 APN 16 36,716,164 (GRCm38) missense probably damaging 1.00
R0295:Ildr1 UTSW 16 36,709,477 (GRCm38) critical splice acceptor site probably null
R1649:Ildr1 UTSW 16 36,708,319 (GRCm38) missense probably damaging 1.00
R1728:Ildr1 UTSW 16 36,708,336 (GRCm38) missense possibly damaging 0.80
R1990:Ildr1 UTSW 16 36,716,206 (GRCm38) missense probably damaging 0.99
R2020:Ildr1 UTSW 16 36,725,541 (GRCm38) missense probably damaging 0.97
R2110:Ildr1 UTSW 16 36,721,979 (GRCm38) missense probably damaging 1.00
R4755:Ildr1 UTSW 16 36,722,021 (GRCm38) missense probably benign 0.00
R4798:Ildr1 UTSW 16 36,722,555 (GRCm38) missense possibly damaging 0.66
R4973:Ildr1 UTSW 16 36,708,298 (GRCm38) missense probably benign 0.10
R5014:Ildr1 UTSW 16 36,721,559 (GRCm38) missense probably damaging 0.98
R5426:Ildr1 UTSW 16 36,709,619 (GRCm38) missense probably damaging 1.00
R5957:Ildr1 UTSW 16 36,725,534 (GRCm38) makesense probably null
R7058:Ildr1 UTSW 16 36,722,368 (GRCm38) missense probably benign 0.01
R7646:Ildr1 UTSW 16 36,721,919 (GRCm38) missense possibly damaging 0.78
R8245:Ildr1 UTSW 16 36,709,521 (GRCm38) missense probably damaging 1.00
R8392:Ildr1 UTSW 16 36,722,359 (GRCm38) missense probably damaging 1.00
R8392:Ildr1 UTSW 16 36,722,358 (GRCm38) nonsense probably null
R8748:Ildr1 UTSW 16 36,722,372 (GRCm38) missense probably benign 0.18
R8791:Ildr1 UTSW 16 36,708,400 (GRCm38) missense probably damaging 0.96
R8854:Ildr1 UTSW 16 36,715,548 (GRCm38) missense probably damaging 1.00
R9108:Ildr1 UTSW 16 36,715,557 (GRCm38) missense probably benign 0.13
R9252:Ildr1 UTSW 16 36,716,212 (GRCm38) missense probably damaging 1.00
R9372:Ildr1 UTSW 16 36,722,359 (GRCm38) missense probably damaging 1.00
R9434:Ildr1 UTSW 16 36,709,500 (GRCm38) missense probably damaging 1.00
R9642:Ildr1 UTSW 16 36,716,128 (GRCm38) missense probably damaging 1.00
R9681:Ildr1 UTSW 16 36,708,387 (GRCm38) missense probably damaging 1.00
R9707:Ildr1 UTSW 16 36,709,530 (GRCm38) missense probably damaging 1.00
R9777:Ildr1 UTSW 16 36,708,297 (GRCm38) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- ACGTGACATTTTGATGCCCTG -3'
(R):5'- CTCACTCAGATCGCAGTGTC -3'

Sequencing Primer
(F):5'- ATGCCCTGGTTCCTAGGAG -3'
(R):5'- CTCAGATCGCAGTGTCTGGAAG -3'
Posted On 2014-09-18