Incidental Mutation 'R7344:Ildr2'
ID570068
Institutional Source Beutler Lab
Gene Symbol Ildr2
Ensembl Gene ENSMUSG00000040612
Gene Nameimmunoglobulin-like domain containing receptor 2
SynonymsD1Ertd471e, ENSMUSG00000040612, 2810478N18Rik, 3110063L10Rik, OTTMUSG00000021748, Dbsm1
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.442) question?
Stock #R7344 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location166254139-166316823 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 166294597 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 203 (V203E)
Ref Sequence ENSEMBL: ENSMUSP00000107047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111416] [ENSMUST00000192426] [ENSMUST00000192638] [ENSMUST00000192732] [ENSMUST00000193860] [ENSMUST00000194964] [ENSMUST00000195557]
Predicted Effect probably damaging
Transcript: ENSMUST00000111416
AA Change: V203E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: V203E

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
IG 42 181 4.6e-3 SMART
Pfam:LSR 201 248 2e-26 PFAM
low complexity region 260 278 N/A INTRINSIC
low complexity region 512 527 N/A INTRINSIC
low complexity region 591 607 N/A INTRINSIC
low complexity region 639 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192426
SMART Domains Protein: ENSMUSP00000141961
Gene: ENSMUSG00000040612

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192638
AA Change: V184E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: V184E

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
Pfam:LSR 182 230 2e-23 PFAM
low complexity region 241 259 N/A INTRINSIC
low complexity region 493 508 N/A INTRINSIC
low complexity region 572 588 N/A INTRINSIC
low complexity region 620 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192732
SMART Domains Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
low complexity region 385 400 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
low complexity region 512 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193860
SMART Domains Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
low complexity region 404 419 N/A INTRINSIC
low complexity region 483 499 N/A INTRINSIC
low complexity region 531 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194964
AA Change: V203E

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: V203E

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
Pfam:LSR 201 249 1.9e-23 PFAM
low complexity region 453 468 N/A INTRINSIC
low complexity region 532 548 N/A INTRINSIC
low complexity region 580 591 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000195557
AA Change: V203E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: V203E

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IG 42 181 1.9e-5 SMART
IG_like 121 167 2.9e-2 SMART
Pfam:LSR 201 249 1.2e-23 PFAM
low complexity region 260 278 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced stop mutation at threonine-87 display a reduced pancreatic beta-cell replication rate, decreased beta-cell mass, reduced insulin/glucose ratio in blood, impaired glucose tolerance, and persistent mild hypoinsulinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A C 11: 58,291,447 Y216S Het
9530053A07Rik T C 7: 28,140,279 S506P possibly damaging Het
9530053A07Rik C T 7: 28,152,760 T1236I possibly damaging Het
AI314180 A T 4: 58,824,770 D1070E probably benign Het
Anpep G T 7: 79,838,650 S477R possibly damaging Het
Atp7b T C 8: 21,997,499 D1293G probably damaging Het
Caprin2 A G 6: 148,873,067 V249A probably benign Het
Cep41 C T 6: 30,693,656 R5K probably benign Het
Cyp2c23 A T 19: 44,021,737 probably null Het
Dazap2 T A 15: 100,616,943 V15E possibly damaging Het
Epha8 T A 4: 136,934,538 H582L probably benign Het
Fam193a A G 5: 34,485,730 T1513A possibly damaging Het
Fancd2 T C 6: 113,568,709 V901A probably benign Het
Fbl T A 7: 28,178,935 V284E probably damaging Het
Fbln2 A G 6: 91,269,973 E1065G probably damaging Het
Fbxw16 A G 9: 109,449,035 V25A probably benign Het
Gm11562 T G 11: 99,620,369 T2P unknown Het
Gm17728 G T 17: 9,422,123 G22W probably damaging Het
Gm30083 A G 14: 33,999,580 Y190H probably benign Het
Gm6793 T A 8: 112,014,929 D27V probably damaging Het
Gm7324 A G 14: 43,714,677 D259G probably benign Het
Gtf2a1l G A 17: 88,694,103 G129D probably damaging Het
Ipo4 C T 14: 55,635,531 R23Q probably benign Het
Irx5 A G 8: 92,359,555 T89A probably benign Het
Itga7 A G 10: 128,940,929 N221S possibly damaging Het
Lpcat2 T C 8: 92,875,567 W259R probably damaging Het
Lrrc8e C T 8: 4,234,815 R347C probably damaging Het
Lyst T A 13: 13,706,555 D2790E probably benign Het
Magi2 G A 5: 20,550,240 R604Q probably benign Het
Mertk C A 2: 128,771,497 H478N probably benign Het
Mical3 T A 6: 121,036,544 K293* probably null Het
Nod2 T C 8: 88,660,582 L168P probably damaging Het
Npnt T C 3: 132,908,339 probably null Het
Olfr1006 A T 2: 85,674,931 Y73* probably null Het
Olfr1375 T G 11: 51,048,295 F63V probably damaging Het
Olfr312 A T 11: 58,831,482 E109D probably damaging Het
Olfr884 T C 9: 38,047,957 M245T probably benign Het
Plcd4 A T 1: 74,554,652 D312V probably damaging Het
Prss58 A G 6: 40,895,465 I208T probably damaging Het
Pus7l A G 15: 94,540,617 S116P probably benign Het
Rcc1l A T 5: 134,176,437 I93N probably benign Het
Rftn2 A C 1: 55,226,152 Y36* probably null Het
Rp1l1 G A 14: 64,029,620 R885Q probably benign Het
Rpgrip1 A T 14: 52,140,659 D488V probably damaging Het
Sacs A G 14: 61,207,444 Y2313C possibly damaging Het
Scrib T C 15: 76,049,258 Y1332C probably damaging Het
Serpinb10 T C 1: 107,540,942 V105A probably damaging Het
Slc35d1 A T 4: 103,213,046 probably null Het
Slfn3 T C 11: 83,212,822 V173A probably benign Het
Smpd3 C T 8: 106,265,193 V243M probably damaging Het
Stard9 A T 2: 120,704,686 D3808V possibly damaging Het
Supt16 A T 14: 52,173,571 V692D probably damaging Het
Tapt1 A T 5: 44,188,657 V317E probably damaging Het
Vmn2r101 T C 17: 19,611,797 I685T probably benign Het
Vmn2r92 A G 17: 18,167,251 I173V probably benign Het
Vps54 T C 11: 21,274,999 I165T probably damaging Het
Zswim4 G A 8: 84,223,698 R628* probably null Het
Zzz3 T C 3: 152,452,099 S770P probably damaging Het
Other mutations in Ildr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Ildr2 APN 1 166269370 missense possibly damaging 0.76
R0079:Ildr2 UTSW 1 166307720 missense probably damaging 1.00
R0371:Ildr2 UTSW 1 166303564 missense probably damaging 1.00
R0426:Ildr2 UTSW 1 166308899 missense probably benign 0.00
R1528:Ildr2 UTSW 1 166270495 splice site probably null
R1570:Ildr2 UTSW 1 166303585 missense probably damaging 1.00
R2143:Ildr2 UTSW 1 166269326 missense probably damaging 1.00
R2760:Ildr2 UTSW 1 166303606 missense probably damaging 1.00
R3960:Ildr2 UTSW 1 166309340 missense probably damaging 0.99
R4965:Ildr2 UTSW 1 166307840 missense probably damaging 1.00
R5101:Ildr2 UTSW 1 166307762 missense probably damaging 1.00
R5351:Ildr2 UTSW 1 166308909 missense possibly damaging 0.58
R6021:Ildr2 UTSW 1 166303604 missense possibly damaging 0.77
R6841:Ildr2 UTSW 1 166270575 missense probably damaging 1.00
R7028:Ildr2 UTSW 1 166303529 missense probably damaging 1.00
R7117:Ildr2 UTSW 1 166295811 missense probably damaging 1.00
R7169:Ildr2 UTSW 1 166307934 critical splice donor site probably null
R7612:Ildr2 UTSW 1 166307792 missense probably benign 0.43
R7697:Ildr2 UTSW 1 166294731 missense probably benign 0.21
R7869:Ildr2 UTSW 1 166309292 missense probably benign 0.01
R7908:Ildr2 UTSW 1 166307800 missense probably damaging 1.00
R7952:Ildr2 UTSW 1 166309292 missense probably benign 0.01
R7989:Ildr2 UTSW 1 166307800 missense probably damaging 1.00
X0009:Ildr2 UTSW 1 166269311 missense probably benign 0.05
Z1177:Ildr2 UTSW 1 166309049 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCACTCTGGGTTCTTCATGAG -3'
(R):5'- AAGAACAGCCTTCCCTGCAG -3'

Sequencing Primer
(F):5'- CATGAGTCTGGGGGCCCTATG -3'
(R):5'- TTCCCTGCAGCCAGAGGTAAG -3'
Posted On2019-09-13