Incidental Mutation 'R2760:Ildr2'
ID 253973
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.543) question?
Stock # R2760 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 166081708-166144392 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166131175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 344 (R344G)
Ref Sequence ENSEMBL: ENSMUSP00000107047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111416] [ENSMUST00000192426] [ENSMUST00000192638] [ENSMUST00000192732] [ENSMUST00000193860] [ENSMUST00000195557] [ENSMUST00000194964]
AlphaFold B5TVM2
Predicted Effect probably damaging
Transcript: ENSMUST00000111416
AA Change: R344G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107047
Gene: ENSMUSG00000040612
AA Change: R344G

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: R325G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142311
Gene: ENSMUSG00000040612
AA Change: R325G

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: R217G
SMART Domains Protein: ENSMUSP00000141502
Gene: ENSMUSG00000040612
AA Change: R217G

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: R236G
SMART Domains Protein: ENSMUSP00000141323
Gene: ENSMUSG00000040612
AA Change: R236G

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 damaging
Transcript: ENSMUST00000195557
AA Change: R344G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142240
Gene: ENSMUSG00000040612
AA Change: R344G

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
Predicted Effect unknown
Transcript: ENSMUST00000194964
AA Change: R285G
SMART Domains Protein: ENSMUSP00000142152
Gene: ENSMUSG00000040612
AA Change: R285G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Atp8a2 C T 14: 60,097,641 (GRCm39) V796I probably benign Het
Btnl1 T G 17: 34,600,012 (GRCm39) W172G probably damaging Het
Ceacam1 T C 7: 25,176,899 (GRCm39) T21A probably damaging Het
Dipk1b A G 2: 26,525,837 (GRCm39) H257R probably benign Het
Frmpd1 A C 4: 45,244,667 (GRCm39) I119L possibly damaging Het
Haus6 A T 4: 86,501,413 (GRCm39) Y819* probably null Het
Irs1 T C 1: 82,266,291 (GRCm39) I642V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lum T C 10: 97,404,633 (GRCm39) V176A probably benign Het
Nobox A G 6: 43,281,040 (GRCm39) L478P probably damaging Het
Or10g6 T A 9: 39,933,692 (GRCm39) M1K probably null Het
Or4a67 T A 2: 88,597,980 (GRCm39) R226S possibly damaging Het
Or55b4 T C 7: 102,133,583 (GRCm39) H248R probably damaging Het
Or6b2b A G 1: 92,418,802 (GRCm39) V225A probably damaging Het
Or7a42 A T 10: 78,791,876 (GRCm39) Y279F probably damaging Het
Rtn1 A T 12: 72,455,136 (GRCm39) C64S probably benign Het
Senp6 A G 9: 80,029,260 (GRCm39) Y285C probably null Het
Slco1a5 C A 6: 142,195,997 (GRCm39) M335I probably benign Het
Spg11 A T 2: 121,927,840 (GRCm39) I648K probably damaging Het
Ube3d T C 9: 86,305,027 (GRCm39) I272V probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Utrn A G 10: 12,566,622 (GRCm39) V1180A probably damaging Het
Vill T C 9: 118,895,950 (GRCm39) probably null Het
Vmn2r101 T C 17: 19,809,901 (GRCm39) I229T probably benign Het
Zbtb8b A T 4: 129,326,293 (GRCm39) L291M probably benign Het
Other mutations in Ildr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01993:Ildr2 APN 1 166,096,939 (GRCm39) missense possibly damaging 0.76
R0079:Ildr2 UTSW 1 166,135,289 (GRCm39) missense probably damaging 1.00
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
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'- TCTGGGCAATTGTTCTAACTGG -3'
(R):5'- ACGCTTTCACTAGAATCCCC -3'

Sequencing Primer
(F):5'- GGAACCATGTTTTTCTGCTTGG -3'
(R):5'- GCTTTCACTAGAATCCCCTTCTATTC -3'
Posted On 2014-12-04