Incidental Mutation 'R7640:Impdh2'
ID 590193
Institutional Source Beutler Lab
Gene Symbol Impdh2
Ensembl Gene ENSMUSG00000062867
Gene Name inosine monophosphate dehydrogenase 2
Synonyms IMP dehydrogenase type II
MMRRC Submission 045698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7640 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108437635-108442776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108442380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 459 (Y459H)
Ref Sequence ENSEMBL: ENSMUSP00000079888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000193421] [ENSMUST00000194381] [ENSMUST00000194904] [ENSMUST00000195249]
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: Y459H

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867
AA Change: Y459H

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 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: ENSMUST00000194381
Predicted Effect possibly damaging
Transcript: ENSMUST00000194904
AA Change: Y277H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867
AA Change: Y277H

DomainStartEndE-ValueType
IMPDH 1 319 5e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,181,905 (GRCm39) N20I probably damaging Het
4930558K02Rik A G 1: 161,784,718 (GRCm39) S74P probably benign Het
Abcb6 A T 1: 75,151,489 (GRCm39) probably null Het
Adamts14 C A 10: 61,081,836 (GRCm39) A234S probably benign Het
Ankrd42 A G 7: 92,268,843 (GRCm39) S167P probably benign Het
Ap3m1 T C 14: 21,088,243 (GRCm39) I272V probably benign Het
Armt1 T C 10: 4,403,572 (GRCm39) F219S probably damaging Het
Atr T G 9: 95,789,346 (GRCm39) probably null Het
Cep72 G A 13: 74,206,607 (GRCm39) Q72* probably null Het
Clock G T 5: 76,396,225 (GRCm39) L175M possibly damaging Het
Cnmd T A 14: 79,898,974 (GRCm39) Y26F possibly damaging Het
Col6a6 A T 9: 105,662,943 (GRCm39) M198K possibly damaging Het
Cuta C T 17: 27,157,396 (GRCm39) V135I probably benign Het
Ddx41 A T 13: 55,682,052 (GRCm39) M241K possibly damaging Het
Dnajc22 A G 15: 98,998,995 (GRCm39) N60S probably damaging Het
Drc3 A G 11: 60,279,730 (GRCm39) M432V probably benign Het
Dync2i2 T G 2: 29,921,780 (GRCm39) D527A probably benign Het
Eef1d C A 15: 75,774,556 (GRCm39) G368C probably damaging Het
En2 A T 5: 28,375,164 (GRCm39) K236* probably null Het
Fas A G 19: 34,284,564 (GRCm39) T24A possibly damaging Het
Golga2 T C 2: 32,196,251 (GRCm39) V930A probably benign Het
Gprin2 G T 14: 33,917,710 (GRCm39) A20D probably benign Het
Ighv14-4 A T 12: 114,140,064 (GRCm39) C115* probably null Het
Klhdc7b G T 15: 89,271,463 (GRCm39) V124L possibly damaging Het
L2hgdh A T 12: 69,768,131 (GRCm39) Y122* probably null Het
Lamc2 A T 1: 153,012,550 (GRCm39) I708N possibly damaging Het
Large2 T C 2: 92,205,050 (GRCm39) M1V probably null Het
Lrit2 T C 14: 36,794,081 (GRCm39) W382R probably damaging Het
Mcee T A 7: 64,061,716 (GRCm39) V173E probably damaging Het
Mcph1 T A 8: 18,682,342 (GRCm39) V493E probably benign Het
Mfap4 A G 11: 61,377,913 (GRCm39) N118D probably damaging Het
Mknk2 T C 10: 80,504,400 (GRCm39) S301G probably benign Het
Mlf1 G A 3: 67,300,266 (GRCm39) M94I possibly damaging Het
Mrc2 T A 11: 105,223,121 (GRCm39) S455T possibly damaging Het
Mrgprb5 T G 7: 47,818,007 (GRCm39) I243L probably benign Het
Muc4 C A 16: 32,580,479 (GRCm39) P360T Het
Nat10 G A 2: 103,573,435 (GRCm39) A354V probably damaging Het
Nscme3l T A 19: 5,553,035 (GRCm39) S249C probably damaging Het
Nts T C 10: 102,326,165 (GRCm39) Q7R possibly damaging Het
Oas1b T C 5: 120,959,479 (GRCm39) L288P probably damaging Het
Or4a66 T A 2: 88,531,230 (GRCm39) I148L probably benign Het
Or51k2 A T 7: 103,596,150 (GRCm39) I126F probably damaging Het
Or5w11 A G 2: 87,459,436 (GRCm39) I94V probably benign Het
Or8k30 A G 2: 86,339,287 (GRCm39) I161M possibly damaging Het
Otoa A G 7: 120,744,849 (GRCm39) E869G probably damaging Het
Pcdhac2 T C 18: 37,277,578 (GRCm39) L186P probably damaging Het
Plekhh2 A G 17: 84,918,204 (GRCm39) E1271G possibly damaging Het
Pmepa1 C T 2: 173,117,956 (GRCm39) A8T probably benign Het
Pramel24 T C 4: 143,453,276 (GRCm39) V128A probably benign Het
Rc3h2 A G 2: 37,267,861 (GRCm39) probably null Het
Rlf T A 4: 121,003,998 (GRCm39) M1771L possibly damaging Het
Rpap1 G A 2: 119,594,891 (GRCm39) P1372L possibly damaging Het
Rragd A T 4: 32,983,527 (GRCm39) D22V probably benign Het
Sema3f A T 9: 107,560,774 (GRCm39) S644R probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spata31h1 T A 10: 82,130,490 (GRCm39) N840I probably damaging Het
Specc1l T A 10: 75,093,703 (GRCm39) N717K probably damaging Het
Sphkap C T 1: 83,256,649 (GRCm39) D367N possibly damaging Het
Tbc1d21 C T 9: 58,268,544 (GRCm39) V272M probably damaging Het
Tlcd4 A G 3: 121,028,690 (GRCm39) probably null Het
Tmem132c A G 5: 127,640,070 (GRCm39) D747G probably damaging Het
Trim2 C A 3: 84,098,213 (GRCm39) V372F probably benign Het
Ttc34 A G 4: 154,945,841 (GRCm39) T292A probably benign Het
Ube3b A G 5: 114,553,384 (GRCm39) T919A probably benign Het
Zfhx4 T C 3: 5,477,540 (GRCm39) I3385T probably benign Het
Zfp423 T C 8: 88,507,905 (GRCm39) K813R probably damaging Het
Zfp850 T C 7: 27,688,634 (GRCm39) T525A probably benign Het
Zfp873 T C 10: 81,896,109 (GRCm39) I280T possibly damaging Het
Zkscan7 A G 9: 122,725,121 (GRCm39) T697A possibly 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
R2173:Impdh2 UTSW 9 108,442,593 (GRCm39) splice site probably null
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
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'- TTCAGGTGAGACAGGCAGAC -3'
(R):5'- TACGAATGGAGGCTGTGGAC -3'

Sequencing Primer
(F):5'- ACAGGCAGACAAGTCAGC -3'
(R):5'- TTCCACCTGAGCAGAGGATGTC -3'
Posted On 2019-10-24