Incidental Mutation 'R0556:Mau2'
ID 45566
Institutional Source Beutler Lab
Gene Symbol Mau2
Ensembl Gene ENSMUSG00000031858
Gene Name MAU2 sister chromatid cohesion factor
Synonyms A930019L04Rik, 9130404D08Rik
MMRRC Submission 038748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0556 (G1)
Quality Score 153
Status Validated
Chromosome 8
Chromosomal Location 70468773-70495384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 70495082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 85 (T85R)
Ref Sequence ENSEMBL: ENSMUSP00000148532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011450] [ENSMUST00000050561] [ENSMUST00000168013] [ENSMUST00000212308] [ENSMUST00000212451] [ENSMUST00000212845]
AlphaFold Q9D2X5
Predicted Effect probably benign
Transcript: ENSMUST00000011450
SMART Domains Protein: ENSMUSP00000011450
Gene: ENSMUSG00000011306

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
SWAP 185 239 8e-20 SMART
SWAP 260 314 4.09e-17 SMART
low complexity region 344 365 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
G_patch 558 605 3.25e-17 SMART
low complexity region 628 643 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000050561
AA Change: T85R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054763
Gene: ENSMUSG00000031858
AA Change: T85R

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 575 5e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168013
AA Change: T85R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131966
Gene: ENSMUSG00000031858
AA Change: T85R

DomainStartEndE-ValueType
Pfam:Cohesin_load 29 576 8.7e-130 PFAM
Pfam:TPR_8 71 105 3.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212055
Predicted Effect probably damaging
Transcript: ENSMUST00000212308
AA Change: T85R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212451
AA Change: T85R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212845
AA Change: T85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212401
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 98% (64/65)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T A 17: 15,164,213 (GRCm39) Y113* probably null Het
4930402F06Rik T C 2: 35,280,482 (GRCm39) probably benign Het
Acad11 A G 9: 103,992,501 (GRCm39) E481G probably damaging Het
Aldh1a1 A T 19: 20,611,842 (GRCm39) N389Y probably damaging Het
Bmpr2 C T 1: 59,854,487 (GRCm39) T112M probably damaging Het
Bms1 A G 6: 118,390,140 (GRCm39) Y227H probably damaging Het
Cab39 A G 1: 85,763,212 (GRCm39) probably benign Het
Ccn3 A T 15: 54,612,563 (GRCm39) T191S probably damaging Het
Ccno T C 13: 113,124,820 (GRCm39) probably null Het
Cct6b A G 11: 82,610,270 (GRCm39) probably benign Het
Cd101 A C 3: 100,927,970 (GRCm39) I37S probably damaging Het
Ces1a T C 8: 93,771,740 (GRCm39) H19R probably benign Het
Clec16a A G 16: 10,456,649 (GRCm39) probably null Het
Cntnap1 T C 11: 101,074,822 (GRCm39) F831S probably benign Het
Col24a1 A G 3: 145,020,489 (GRCm39) T287A possibly damaging Het
Colgalt2 C T 1: 152,347,564 (GRCm39) probably benign Het
Cpd A G 11: 76,693,171 (GRCm39) probably benign Het
Cyp3a16 C A 5: 145,392,790 (GRCm39) M145I probably benign Het
Ddx54 T A 5: 120,757,719 (GRCm39) probably benign Het
Dock7 A T 4: 98,833,426 (GRCm39) L1925Q probably damaging Het
Eif4g1 A T 16: 20,494,544 (GRCm39) Y127F probably damaging Het
Erap1 T A 13: 74,808,444 (GRCm39) V52E probably damaging Het
Fbxo6 G T 4: 148,230,632 (GRCm39) T210N probably damaging Het
Fcgbpl1 C T 7: 27,858,803 (GRCm39) H2308Y probably benign Het
Garre1 T C 7: 33,939,222 (GRCm39) T222A probably damaging Het
Gnat3 T G 5: 18,224,596 (GRCm39) V332G probably damaging Het
Ift22 T A 5: 136,940,145 (GRCm39) probably null Het
Igkv4-71 A G 6: 69,220,171 (GRCm39) C109R probably damaging Het
Igsf10 A G 3: 59,236,296 (GRCm39) L1295P probably benign Het
Itga4 T C 2: 79,155,983 (GRCm39) I983T probably benign Het
Lhcgr A T 17: 89,079,491 (GRCm39) V65D probably damaging Het
Morc2a T C 11: 3,631,809 (GRCm39) probably null Het
Morc2b A T 17: 33,356,812 (GRCm39) M320K probably benign Het
Ms4a18 C A 19: 10,991,065 (GRCm39) V10F probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Mtor A G 4: 148,553,837 (GRCm39) E812G possibly damaging Het
Myo1h A G 5: 114,457,852 (GRCm39) Y121C probably damaging Het
Or11g27 T C 14: 50,771,381 (GRCm39) S171P probably benign Het
Or4a66 A C 2: 88,531,115 (GRCm39) V186G possibly damaging Het
Or8b53 A T 9: 38,667,041 (GRCm39) D19V possibly damaging Het
Plcd3 G A 11: 102,968,632 (GRCm39) T353M probably damaging Het
Pnpla7 T A 2: 24,942,313 (GRCm39) probably null Het
Ppp1r12b T A 1: 134,705,060 (GRCm39) Y876F probably damaging Het
Prelid2 T A 18: 42,084,245 (GRCm39) probably benign Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Prr12 A G 7: 44,680,093 (GRCm39) L1887P unknown Het
Ptk2b A G 14: 66,409,593 (GRCm39) L481P probably damaging Het
Rgl3 T A 9: 21,887,140 (GRCm39) K531* probably null Het
Sacs A G 14: 61,421,407 (GRCm39) I115V probably damaging Het
Septin3 G T 15: 82,167,966 (GRCm39) probably benign Het
Simc1 T C 13: 54,673,160 (GRCm39) S503P probably benign Het
Stard9 T C 2: 120,529,404 (GRCm39) V1887A probably benign Het
Synj2 T A 17: 6,088,230 (GRCm39) L1427* probably null Het
Taar2 A G 10: 23,816,793 (GRCm39) D111G probably damaging Het
Tlr5 A G 1: 182,801,716 (GRCm39) N340S probably damaging Het
Tmco2 A G 4: 120,966,314 (GRCm39) L14P probably damaging Het
Tnik A T 3: 28,679,367 (GRCm39) D746V possibly damaging Het
Trip11 C A 12: 101,850,777 (GRCm39) E811* probably null Het
Ttll9 T C 2: 152,815,526 (GRCm39) probably null Het
Uchl1 A G 5: 66,839,824 (GRCm39) E122G probably benign Het
Vwa3b C A 1: 37,203,566 (GRCm39) probably benign Het
Zan T C 5: 137,452,482 (GRCm39) N1533S unknown Het
Zfp687 G T 3: 94,917,719 (GRCm39) D684E probably damaging Het
Other mutations in Mau2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Mau2 APN 8 70,481,895 (GRCm39) splice site probably benign
IGL02353:Mau2 APN 8 70,472,288 (GRCm39) missense probably damaging 0.99
IGL02360:Mau2 APN 8 70,472,288 (GRCm39) missense probably damaging 0.99
IGL02990:Mau2 APN 8 70,474,905 (GRCm39) splice site probably benign
PIT4382001:Mau2 UTSW 8 70,483,302 (GRCm39) missense possibly damaging 0.95
R0378:Mau2 UTSW 8 70,483,305 (GRCm39) missense probably damaging 0.99
R0558:Mau2 UTSW 8 70,495,082 (GRCm39) missense probably damaging 1.00
R0731:Mau2 UTSW 8 70,476,262 (GRCm39) critical splice donor site probably null
R0987:Mau2 UTSW 8 70,480,348 (GRCm39) missense probably damaging 0.99
R1866:Mau2 UTSW 8 70,484,142 (GRCm39) missense probably damaging 1.00
R2857:Mau2 UTSW 8 70,472,474 (GRCm39) missense probably benign 0.08
R4852:Mau2 UTSW 8 70,485,827 (GRCm39) critical splice donor site probably null
R4893:Mau2 UTSW 8 70,483,290 (GRCm39) critical splice donor site probably null
R4970:Mau2 UTSW 8 70,480,353 (GRCm39) missense possibly damaging 0.94
R5004:Mau2 UTSW 8 70,478,537 (GRCm39) missense probably damaging 1.00
R5012:Mau2 UTSW 8 70,484,107 (GRCm39) splice site probably null
R5248:Mau2 UTSW 8 70,481,373 (GRCm39) missense probably benign 0.11
R6150:Mau2 UTSW 8 70,472,487 (GRCm39) missense probably benign 0.23
R6178:Mau2 UTSW 8 70,495,187 (GRCm39) missense probably damaging 0.96
R6343:Mau2 UTSW 8 70,484,173 (GRCm39) missense probably damaging 0.99
R6649:Mau2 UTSW 8 70,484,166 (GRCm39) missense possibly damaging 0.71
R6838:Mau2 UTSW 8 70,491,947 (GRCm39) splice site probably null
R6959:Mau2 UTSW 8 70,485,878 (GRCm39) missense probably damaging 1.00
R7365:Mau2 UTSW 8 70,481,884 (GRCm39) missense possibly damaging 0.93
R7747:Mau2 UTSW 8 70,479,373 (GRCm39) missense possibly damaging 0.46
R8039:Mau2 UTSW 8 70,472,440 (GRCm39) missense probably damaging 0.96
R8222:Mau2 UTSW 8 70,485,827 (GRCm39) critical splice donor site probably null
R8350:Mau2 UTSW 8 70,495,242 (GRCm39) missense probably damaging 1.00
R8782:Mau2 UTSW 8 70,485,845 (GRCm39) missense possibly damaging 0.74
R9145:Mau2 UTSW 8 70,480,165 (GRCm39) missense probably damaging 1.00
R9514:Mau2 UTSW 8 70,480,153 (GRCm39) missense probably damaging 1.00
R9515:Mau2 UTSW 8 70,480,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGAAGAGGGACAACTTTCCCG -3'
(R):5'- CCATAAGACCCAGAAGTCCTTGCG -3'

Sequencing Primer
(F):5'- GGACAACTTTCCCGGTTCC -3'
(R):5'- CAAGATggcggcacagg -3'
Posted On 2013-06-11