Incidental Mutation 'R2173:Impdh2'
ID 237630
Institutional Source Beutler Lab
Gene Symbol Impdh2
Ensembl Gene ENSMUSG00000062867
Gene Name inosine monophosphate dehydrogenase 2
Synonyms IMP dehydrogenase type II
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108437635-108442776 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 108442593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000194904] [ENSMUST00000193421] [ENSMUST00000195249] [ENSMUST00000194381]
AlphaFold P24547
Predicted Effect probably benign
Transcript: ENSMUST00000019183
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 288 301 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
DALR_1 399 538 2.09e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074208
SMART Domains Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

DomainStartEndE-ValueType
Pfam:DUF498 61 169 9.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081111
AA Change: V503I

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: V503I

DomainStartEndE-ValueType
IMPDH 28 504 7.39e-260 SMART
CBS 117 168 9.4e-7 SMART
CBS 184 232 1.57e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
Predicted Effect probably null
Transcript: ENSMUST00000194904
SMART Domains Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 1 319 5e-122 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194666
Predicted Effect probably benign
Transcript: ENSMUST00000193421
SMART Domains Protein: ENSMUSP00000142117
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 248 1.3e-18 SMART
CBS 92 143 4.5e-9 SMART
CBS 159 207 7.6e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Predicted Effect probably benign
Transcript: ENSMUST00000194381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196210
Meta Mutation Damage Score 0.6365 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities resulting in embryonic lethality around the time of implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging Het
Other mutations in Impdh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Impdh2 UTSW 9 108,438,860 (GRCm39) missense probably damaging 1.00
R0523:Impdh2 UTSW 9 108,439,019 (GRCm39) missense possibly damaging 0.80
R0523:Impdh2 UTSW 9 108,439,018 (GRCm39) splice site probably null
R0644:Impdh2 UTSW 9 108,440,836 (GRCm39) missense possibly damaging 0.56
R0648:Impdh2 UTSW 9 108,440,665 (GRCm39) missense probably benign 0.01
R0905:Impdh2 UTSW 9 108,438,296 (GRCm39) unclassified probably benign
R1173:Impdh2 UTSW 9 108,439,028 (GRCm39) missense probably benign 0.19
R1202:Impdh2 UTSW 9 108,440,386 (GRCm39) missense probably damaging 1.00
R1441:Impdh2 UTSW 9 108,441,975 (GRCm39) missense probably benign 0.12
R1818:Impdh2 UTSW 9 108,440,411 (GRCm39) splice site probably null
R2141:Impdh2 UTSW 9 108,442,546 (GRCm39) missense possibly damaging 0.50
R2438:Impdh2 UTSW 9 108,437,815 (GRCm39) missense probably benign 0.06
R4061:Impdh2 UTSW 9 108,440,003 (GRCm39) missense possibly damaging 0.46
R4273:Impdh2 UTSW 9 108,442,155 (GRCm39) missense probably damaging 1.00
R4847:Impdh2 UTSW 9 108,442,714 (GRCm39) missense probably benign 0.00
R4847:Impdh2 UTSW 9 108,441,870 (GRCm39) missense probably damaging 1.00
R5073:Impdh2 UTSW 9 108,440,535 (GRCm39) critical splice donor site probably null
R5896:Impdh2 UTSW 9 108,441,165 (GRCm39) missense probably benign 0.06
R6315:Impdh2 UTSW 9 108,440,638 (GRCm39) missense possibly damaging 0.66
R7172:Impdh2 UTSW 9 108,437,809 (GRCm39) missense probably benign 0.00
R7182:Impdh2 UTSW 9 108,440,407 (GRCm39) missense possibly damaging 0.56
R7241:Impdh2 UTSW 9 108,440,636 (GRCm39) missense possibly damaging 0.78
R7640:Impdh2 UTSW 9 108,442,380 (GRCm39) missense possibly damaging 0.84
R7969:Impdh2 UTSW 9 108,439,505 (GRCm39) nonsense probably null
R8079:Impdh2 UTSW 9 108,440,524 (GRCm39) missense probably benign 0.01
R8728:Impdh2 UTSW 9 108,437,562 (GRCm39) unclassified probably benign
R8735:Impdh2 UTSW 9 108,441,978 (GRCm39) critical splice donor site probably null
R8821:Impdh2 UTSW 9 108,441,957 (GRCm39) missense probably damaging 0.99
R8831:Impdh2 UTSW 9 108,441,957 (GRCm39) missense probably damaging 0.99
R9355:Impdh2 UTSW 9 108,442,402 (GRCm39) missense probably benign 0.35
R9697:Impdh2 UTSW 9 108,438,847 (GRCm39) missense possibly damaging 0.86
X0066:Impdh2 UTSW 9 108,438,986 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- ACATTGGTGCCAAGAGTTTAACC -3'
(R):5'- AAAACTGCAAGTGCCCATTG -3'

Sequencing Primer
(F):5'- GTTTAACCCAAGTCAGGTAAGCTTGG -3'
(R):5'- TGCAAGTGCCCATTGAACTC -3'
Posted On 2014-10-02