Incidental Mutation 'R0426:Ildr2'
ID 38623
Institutional Source Beutler Lab
Gene Symbol Ildr2
Ensembl Gene ENSMUSG00000040612
Gene Name immunoglobulin-like domain containing receptor 2
Synonyms D1Ertd471e, ENSMUSG00000040612, 2810478N18Rik, 3110063L10Rik, OTTMUSG00000021748, Dbsm1
MMRRC Submission 038628-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.511) question?
Stock # R0426 (G1)
Quality Score 137
Status Validated
Chromosome 1
Chromosomal Location 166254139-166316823 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 166308899 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 436 (V436L)
Ref Sequence ENSEMBL: ENSMUSP00000107047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111416] [ENSMUST00000192426] [ENSMUST00000192638] [ENSMUST00000192732] [ENSMUST00000193860] [ENSMUST00000194964] [ENSMUST00000195557]
AlphaFold B5TVM2
Predicted Effect probably benign
Transcript: ENSMUST00000111416
AA Change: V436L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: V436L

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 noncoding transcript
Transcript: ENSMUST00000168347
SMART Domains Protein: ENSMUSP00000131549
Gene: ENSMUSG00000091393

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 33 45 N/A INTRINSIC
low complexity region 80 113 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 180 193 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 benign
Transcript: ENSMUST00000192638
AA Change: V417L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: V417L

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 unknown
Transcript: ENSMUST00000192732
AA Change: V309L
SMART Domains Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: V309L

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 unknown
Transcript: ENSMUST00000193860
AA Change: V328L
SMART Domains Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: V328L

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 unknown
Transcript: ENSMUST00000194964
AA Change: V377L
SMART Domains Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: V377L

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 benign
Transcript: ENSMUST00000195557
SMART Domains Protein: ENSMUSP00000142240
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
Pfam:LSR 201 249 1.2e-23 PFAM
low complexity region 260 278 N/A INTRINSIC
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik C T 5: 107,510,373 T1603I probably damaging Het
Abca8b G T 11: 109,955,027 probably benign Het
Acadl A T 1: 66,841,646 F320L probably damaging Het
Acsbg1 T C 9: 54,622,746 D222G probably benign Het
Anapc15 A G 7: 101,898,033 T39A probably benign Het
Ano3 A T 2: 110,661,174 V919E probably damaging Het
Arhgef12 T C 9: 42,970,990 probably null Het
Atad5 T A 11: 80,112,832 I1091N probably benign Het
Atf1 A T 15: 100,232,827 H26L possibly damaging Het
Atp10a T C 7: 58,784,734 M252T probably benign Het
Cd55 C T 1: 130,448,372 R347H probably benign Het
Cdc27 A C 11: 104,513,027 probably null Het
Cdh9 G A 15: 16,823,454 probably null Het
Cdk11b T C 4: 155,642,512 probably benign Het
Cep70 A G 9: 99,297,684 D567G probably benign Het
Cep78 A T 19: 15,970,970 Y382* probably null Het
Col9a2 T C 4: 121,044,660 probably benign Het
Cyp2d12 G A 15: 82,558,963 D409N probably benign Het
Ddx39 A G 8: 83,721,769 T217A probably benign Het
Dennd1b T A 1: 139,170,196 D733E probably benign Het
Dicer1 A G 12: 104,702,542 S1294P probably damaging Het
Dnah3 T C 7: 119,943,572 E3539G probably benign Het
Dnmbp A G 19: 43,852,436 probably benign Het
Dysf T C 6: 84,149,757 L1332P probably damaging Het
F5 A G 1: 164,182,840 D380G probably damaging Het
Fam160a2 A C 7: 105,389,473 C186W probably damaging Het
Fam171a1 T C 2: 3,225,396 V522A probably benign Het
Galr2 C A 11: 116,281,691 A69D probably damaging Het
Grk2 T C 19: 4,290,600 probably null Het
Gtf3c1 A T 7: 125,663,016 Y1119* probably null Het
Hgd A T 16: 37,588,685 probably benign Het
Intu G A 3: 40,675,305 C355Y probably damaging Het
Irf2bpl G T 12: 86,883,096 P268T probably benign Het
Jarid2 T C 13: 44,840,882 probably null Het
Jup A T 11: 100,372,401 M716K probably benign Het
Kank1 G A 19: 25,411,473 V809I probably damaging Het
Kdm1b T A 13: 47,064,244 probably benign Het
Kdm3a C T 6: 71,600,755 C687Y probably damaging Het
Kdm5d T A Y: 942,437 probably benign Het
Kifap3 T A 1: 163,865,552 probably benign Het
Macf1 T A 4: 123,483,660 K1400* probably null Het
Majin A G 19: 6,212,117 probably benign Het
Mb21d1 G A 9: 78,435,738 probably benign Het
Mctp1 A G 13: 77,020,821 I846V probably benign Het
Mrgpra2b T A 7: 47,464,127 I286F possibly damaging Het
Neil3 T G 8: 53,609,396 probably benign Het
Nox3 G T 17: 3,695,563 N23K probably damaging Het
Nt5c3 T C 6: 56,883,812 K219E probably benign Het
Olfr1458 G A 19: 13,103,278 R3C possibly damaging Het
Olfr213 A T 6: 116,540,485 N11Y probably damaging Het
Olfr389 T A 11: 73,776,437 M297L probably benign Het
Olfr524 A C 7: 140,202,116 F218C possibly damaging Het
Olfr548-ps1 T A 7: 102,542,686 I250N probably damaging Het
Olfr954 T C 9: 39,461,593 L54P probably damaging Het
Pacsin2 A G 15: 83,379,795 V347A possibly damaging Het
Pcdhb7 A T 18: 37,342,804 E331V probably damaging Het
Pcid2 A C 8: 13,081,262 probably null Het
Pcsk9 T C 4: 106,450,077 D323G possibly damaging Het
Pdhb T C 14: 8,169,801 E203G probably damaging Het
Phlpp2 A G 8: 109,928,463 Y630C probably benign Het
Pidd1 C T 7: 141,439,133 A812T probably damaging Het
Plau G A 14: 20,842,314 R389H probably benign Het
Plekhg6 G A 6: 125,364,629 probably null Het
Ppox T C 1: 171,277,749 Y321C probably damaging Het
Pxdn A G 12: 29,987,066 N281S possibly damaging Het
Pycrl A T 15: 75,918,388 M138K probably benign Het
Radil T C 5: 142,497,873 Y526C probably damaging Het
Ranbp3 C A 17: 56,707,169 D233E probably benign Het
Rhpn1 A G 15: 75,711,872 Q402R possibly damaging Het
Sec23b T A 2: 144,568,612 probably benign Het
Sel1l2 A T 2: 140,240,912 L602* probably null Het
Sema5b G A 16: 35,646,355 G209D probably damaging Het
Svep1 T C 4: 58,073,333 Y1992C possibly damaging Het
Syncrip T A 9: 88,456,259 probably benign Het
Synj1 G T 16: 90,967,354 A65E probably damaging Het
Taar2 G A 10: 23,941,495 R311H probably benign Het
Tecrl T C 5: 83,354,763 probably benign Het
Tenm4 G T 7: 96,777,851 G698C probably damaging Het
Tmem209 G A 6: 30,491,182 L259F probably damaging Het
Tmem247 G A 17: 86,918,503 E124K possibly damaging Het
Tnks2 C A 19: 36,852,821 A218E probably damaging Het
Tppp T A 13: 74,021,311 F57I probably damaging Het
Trim36 A G 18: 46,172,525 W452R probably damaging Het
Vars2 A T 17: 35,664,584 V262E probably damaging Het
Vmn2r92 C T 17: 18,167,957 A408V probably damaging Het
Zfp516 G T 18: 82,955,772 A32S probably benign Het
Zfy2 G T Y: 2,107,348 L429I possibly 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
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
R7344:Ildr2 UTSW 1 166294597 missense probably damaging 1.00
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
R8688:Ildr2 UTSW 1 166269533 missense probably damaging 1.00
R9181:Ildr2 UTSW 1 166294714 missense probably damaging 1.00
R9258:Ildr2 UTSW 1 166303589 missense probably damaging 1.00
R9435:Ildr2 UTSW 1 166309122 missense probably damaging 0.98
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'- CCAAAGTTGATTCATCCTGCTGGGC -3'
(R):5'- TTCTCCGAGTTGCTGTGGAAGGAC -3'

Sequencing Primer
(F):5'- CTGAGGGGTAAGATACACCTG -3'
(R):5'- ACGAGTGATCGTACTTGGGC -3'
Posted On 2013-05-23