Incidental Mutation 'R0079:Ildr2'
ID 19586
Institutional Source Beutler Lab
Gene Symbol Ildr2
Ensembl Gene ENSMUSG00000040612
Gene Name immunoglobulin-like domain containing receptor 2
Synonyms Dbsm1, ENSMUSG00000040612, OTTMUSG00000021748, 2810478N18Rik, 3110063L10Rik, D1Ertd471e
MMRRC Submission 038366-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.543) question?
Stock # R0079 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 166081708-166144392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 166135289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 347 (Y347F)
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 damaging
Transcript: ENSMUST00000111416
AA Change: Y347F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: Y347F

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 damaging
Transcript: ENSMUST00000192638
AA Change: Y328F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: Y328F

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: Y220F
SMART Domains Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: Y220F

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: Y239F
SMART Domains Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: Y239F

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: Y288F
SMART Domains Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: Y288F

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: Y347F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: Y347F

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 0.0654 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency 78% (155/199)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T A 12: 17,057,183 (GRCm39) T105S possibly damaging Het
Abca13 G A 11: 9,243,493 (GRCm39) M1785I probably benign Het
Adamts3 G C 5: 89,840,912 (GRCm39) P804A probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ank2 G T 3: 126,728,264 (GRCm39) D776E probably benign Het
Cep152 T A 2: 125,460,373 (GRCm39) K193M possibly damaging Het
Cep55 C T 19: 38,048,769 (GRCm39) L142F probably benign Het
Chd5 A G 4: 152,470,206 (GRCm39) Y1884C probably damaging Het
Clasp1 T C 1: 118,471,034 (GRCm39) L890P probably damaging Het
Cul9 C A 17: 46,848,589 (GRCm39) E716* probably null Het
Cytip T A 2: 58,050,006 (GRCm39) D21V probably benign Het
Denr T G 5: 124,062,908 (GRCm39) F137C probably damaging Het
Dhrs3 A T 4: 144,646,618 (GRCm39) S197C probably damaging Het
Egr4 A T 6: 85,489,751 (GRCm39) M103K probably damaging Het
Eif4enif1 C T 11: 3,192,676 (GRCm39) Q835* probably null Het
Gckr A G 5: 31,463,883 (GRCm39) I268V probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Hpd T C 5: 123,319,544 (GRCm39) Y8C probably damaging Het
Il12rb2 A T 6: 67,338,889 (GRCm39) F16I probably benign Het
Kcnv1 T C 15: 44,976,729 (GRCm39) D186G probably damaging Het
Khdrbs2 A G 1: 32,558,996 (GRCm39) probably null Het
L1cam G T X: 72,913,364 (GRCm39) P16H probably damaging Het
Lyn A G 4: 3,746,768 (GRCm39) H161R probably damaging Het
Mctp2 T A 7: 71,863,864 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mitf A C 6: 97,973,401 (GRCm39) M220L probably benign Het
Mrpl21 T C 19: 3,334,807 (GRCm39) Y50H possibly damaging Het
Myh1 T A 11: 67,104,237 (GRCm39) L968Q probably damaging Het
Myo3b A G 2: 69,925,502 (GRCm39) K18E possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nlrp2 T A 7: 5,330,729 (GRCm39) T556S possibly damaging Het
Nsmf T C 2: 24,949,096 (GRCm39) probably benign Het
Nsun7 C T 5: 66,452,856 (GRCm39) P558S probably benign Het
Or10h5 G A 17: 33,435,079 (GRCm39) R80C probably benign Het
Or1e34 T G 11: 73,778,563 (GRCm39) I212L probably benign Het
Or56a3 T C 7: 104,735,135 (GRCm39) S71P probably damaging Het
Or5d40 A T 2: 88,015,698 (GRCm39) Y159F possibly damaging Het
Phf19 T C 2: 34,785,966 (GRCm39) N501S probably benign Het
Ranbp17 A C 11: 33,450,682 (GRCm39) I85S probably damaging Het
Robo1 A G 16: 72,730,230 (GRCm39) probably benign Het
Sntg1 A G 1: 8,749,286 (GRCm39) probably benign Het
Snx15 A G 19: 6,173,943 (GRCm39) L58P probably damaging Het
Spink5 G T 18: 44,110,831 (GRCm39) C134F probably damaging Het
Strip2 T C 6: 29,920,532 (GRCm39) probably null Het
Taf1d C T 9: 15,221,240 (GRCm39) A182V probably benign Het
Tenm3 A G 8: 48,796,380 (GRCm39) V475A possibly damaging Het
Tent4b T A 8: 88,926,631 (GRCm39) Y14N possibly damaging Het
Tgds A T 14: 118,353,647 (GRCm39) H223Q possibly damaging Het
Thoc2 G T X: 40,952,985 (GRCm39) S230Y probably benign Het
Tm9sf4 T A 2: 153,033,065 (GRCm39) V290E probably damaging Het
Trak2 A T 1: 58,965,883 (GRCm39) L97Q probably damaging Het
Trnau1ap A G 4: 132,041,656 (GRCm39) Y145H probably damaging Het
Vars2 A T 17: 35,970,048 (GRCm39) D780E probably damaging Het
Vmn1r170 T A 7: 23,305,735 (GRCm39) S46T possibly damaging Het
Vmn1r20 A T 6: 57,408,777 (GRCm39) R34S possibly damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdr64 T C 1: 175,622,668 (GRCm39) M805T probably benign Het
Xdh G A 17: 74,198,213 (GRCm39) R1225C probably damaging Het
Zfp341 T A 2: 154,466,914 (GRCm39) Y94* probably null Het
Zfp641 T C 15: 98,186,970 (GRCm39) N218D probably benign Het
Zscan22 T C 7: 12,638,014 (GRCm39) probably null Het
Other mutations in Ildr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Ildr2 APN 1 166,096,939 (GRCm39) missense possibly damaging 0.76
R0371:Ildr2 UTSW 1 166,131,133 (GRCm39) missense probably damaging 1.00
R0426:Ildr2 UTSW 1 166,136,468 (GRCm39) missense probably benign 0.00
R1528:Ildr2 UTSW 1 166,098,064 (GRCm39) splice site probably null
R1570:Ildr2 UTSW 1 166,131,154 (GRCm39) missense probably damaging 1.00
R2143:Ildr2 UTSW 1 166,096,895 (GRCm39) missense probably damaging 1.00
R2760:Ildr2 UTSW 1 166,131,175 (GRCm39) missense probably damaging 1.00
R3960:Ildr2 UTSW 1 166,136,909 (GRCm39) missense probably damaging 0.99
R4965:Ildr2 UTSW 1 166,135,409 (GRCm39) missense probably damaging 1.00
R5101:Ildr2 UTSW 1 166,135,331 (GRCm39) missense probably damaging 1.00
R5351:Ildr2 UTSW 1 166,136,478 (GRCm39) missense possibly damaging 0.58
R6021:Ildr2 UTSW 1 166,131,173 (GRCm39) missense possibly damaging 0.77
R6841:Ildr2 UTSW 1 166,098,144 (GRCm39) missense probably damaging 1.00
R7028:Ildr2 UTSW 1 166,131,098 (GRCm39) missense probably damaging 1.00
R7117:Ildr2 UTSW 1 166,123,380 (GRCm39) missense probably damaging 1.00
R7169:Ildr2 UTSW 1 166,135,503 (GRCm39) critical splice donor site probably null
R7344:Ildr2 UTSW 1 166,122,166 (GRCm39) missense probably damaging 1.00
R7612:Ildr2 UTSW 1 166,135,361 (GRCm39) missense probably benign 0.43
R7697:Ildr2 UTSW 1 166,122,300 (GRCm39) missense probably benign 0.21
R7869:Ildr2 UTSW 1 166,136,861 (GRCm39) missense probably benign 0.01
R7908:Ildr2 UTSW 1 166,135,369 (GRCm39) missense probably damaging 1.00
R8688:Ildr2 UTSW 1 166,097,102 (GRCm39) missense probably damaging 1.00
R9181:Ildr2 UTSW 1 166,122,283 (GRCm39) missense probably damaging 1.00
R9258:Ildr2 UTSW 1 166,131,158 (GRCm39) missense probably damaging 1.00
R9435:Ildr2 UTSW 1 166,136,691 (GRCm39) missense probably damaging 0.98
R9647:Ildr2 UTSW 1 166,137,038 (GRCm39) missense probably benign 0.09
R9748:Ildr2 UTSW 1 166,096,889 (GRCm39) missense probably damaging 1.00
X0009:Ildr2 UTSW 1 166,096,880 (GRCm39) missense probably benign 0.05
Z1177:Ildr2 UTSW 1 166,136,618 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGGAGCCAATTCCTGCTGAGTAAC -3'
(R):5'- ACAGATACACAGTGGTCCCTTCCC -3'

Sequencing Primer
(F):5'- TTCCTGCTGAGTAACACAAATACC -3'
(R):5'- TCTTTGTTATACTCCAAGGCTGG -3'
Posted On 2013-04-11