Incidental Mutation 'R0395:Shroom3'
ID 31929
Institutional Source Beutler Lab
Gene Symbol Shroom3
Ensembl Gene ENSMUSG00000029381
Gene Name shroom family member 3
Synonyms Shrm3, D5Ertd287e, Shrm
MMRRC Submission 038601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0395 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92831294-93113177 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 92928762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 106 (R106C)
Ref Sequence ENSEMBL: ENSMUSP00000108678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113055] [ENSMUST00000168878]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000113055
AA Change: R106C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: R106C

DomainStartEndE-ValueType
PDZ 35 109 5.81e-11 SMART
low complexity region 191 202 N/A INTRINSIC
low complexity region 258 268 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 796 814 N/A INTRINSIC
low complexity region 860 879 N/A INTRINSIC
Pfam:ASD1 882 1060 1e-57 PFAM
low complexity region 1114 1127 N/A INTRINSIC
low complexity region 1307 1318 N/A INTRINSIC
low complexity region 1347 1359 N/A INTRINSIC
low complexity region 1449 1463 N/A INTRINSIC
low complexity region 1508 1520 N/A INTRINSIC
Pfam:ASD2 1654 1940 9.9e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168878
AA Change: R106C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: R106C

DomainStartEndE-ValueType
PDZ 35 109 5.81e-11 SMART
low complexity region 191 202 N/A INTRINSIC
low complexity region 258 268 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 796 814 N/A INTRINSIC
low complexity region 860 879 N/A INTRINSIC
low complexity region 983 996 N/A INTRINSIC
low complexity region 1176 1187 N/A INTRINSIC
low complexity region 1216 1228 N/A INTRINSIC
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1377 1389 N/A INTRINSIC
Pfam:ASD2 1522 1809 8.9e-108 PFAM
Meta Mutation Damage Score 0.4027 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 98% (103/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T C 13: 59,837,470 (GRCm39) K205R possibly damaging Het
9630041A04Rik A T 9: 101,819,934 (GRCm39) N118I probably damaging Het
AAdacl4fm3 A G 4: 144,429,765 (GRCm39) V408A probably benign Het
Acsm2 G A 7: 119,174,969 (GRCm39) D245N probably damaging Het
Adgrv1 A T 13: 81,534,072 (GRCm39) H5836Q probably benign Het
Ahcyl2 T C 6: 29,886,167 (GRCm39) V391A probably damaging Het
Alcam A T 16: 52,130,227 (GRCm39) M41K probably benign Het
Aldh3b3 A C 19: 4,016,472 (GRCm39) E363D probably benign Het
Alk A G 17: 72,910,526 (GRCm39) V60A probably damaging Het
Als2cl G A 9: 110,727,152 (GRCm39) R906H probably damaging Het
Ap5z1 T C 5: 142,456,317 (GRCm39) probably benign Het
Apba2 T A 7: 64,393,156 (GRCm39) I547N probably benign Het
Apol10b A T 15: 77,469,840 (GRCm39) D112E probably damaging Het
Ash1l C A 3: 88,965,896 (GRCm39) R2433S probably damaging Het
Cachd1 T C 4: 100,810,402 (GRCm39) F335L probably damaging Het
Cbfa2t3 G T 8: 123,365,690 (GRCm39) Q181K probably benign Het
Cct6b A G 11: 82,630,506 (GRCm39) M265T probably benign Het
Cd151 G A 7: 141,050,304 (GRCm39) V180I probably damaging Het
Ces1h T A 8: 94,083,706 (GRCm39) N412I unknown Het
Chmp7 T C 14: 69,969,905 (GRCm39) T12A probably benign Het
Clasp1 A G 1: 118,467,061 (GRCm39) T534A possibly damaging Het
Cldn15 T A 5: 136,997,052 (GRCm39) V31E possibly damaging Het
Col16a1 G A 4: 129,966,902 (GRCm39) G583D probably damaging Het
Csmd1 T C 8: 16,396,652 (GRCm39) N426S probably damaging Het
Dapp1 C T 3: 137,641,398 (GRCm39) C199Y possibly damaging Het
Dchs1 A G 7: 105,407,745 (GRCm39) L2029P probably damaging Het
Dmc1 A G 15: 79,472,973 (GRCm39) F158S probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Dthd1 T A 5: 62,971,676 (GRCm39) N166K possibly damaging Het
Enam A T 5: 88,649,367 (GRCm39) Y292F probably damaging Het
Esrrg A T 1: 187,930,832 (GRCm39) I285F probably damaging Het
Fam50b A G 13: 34,931,220 (GRCm39) D232G probably damaging Het
Fam91a1 T A 15: 58,326,641 (GRCm39) S792T probably benign Het
Fbxw22 A C 9: 109,210,753 (GRCm39) C419W probably damaging Het
Flt4 G A 11: 49,521,170 (GRCm39) S393N probably benign Het
Fras1 A T 5: 96,917,512 (GRCm39) T3511S possibly damaging Het
Frat2 A C 19: 41,836,263 (GRCm39) S30A probably damaging Het
Glp1r T A 17: 31,155,312 (GRCm39) M433K probably benign Het
Gm10300 G A 4: 131,802,299 (GRCm39) probably benign Het
Gpatch4 A G 3: 87,961,661 (GRCm39) probably benign Het
Gpr22 A T 12: 31,759,461 (GRCm39) S220R possibly damaging Het
Grn T C 11: 102,327,049 (GRCm39) V549A probably benign Het
Gtf3c5 T C 2: 28,467,930 (GRCm39) D177G probably damaging Het
Htr1b A T 9: 81,513,704 (GRCm39) M301K probably benign Het
Ifi207 A T 1: 173,557,431 (GRCm39) S436T possibly damaging Het
Ifnb1 A T 4: 88,440,766 (GRCm39) N82K possibly damaging Het
Ina T G 19: 47,010,358 (GRCm39) N384K probably damaging Het
Kirrel2 T C 7: 30,149,883 (GRCm39) N541D possibly damaging Het
Lrp2 A T 2: 69,263,421 (GRCm39) I4377N possibly damaging Het
Lrrc37a A G 11: 103,355,221 (GRCm39) V2532A unknown Het
Mast4 T C 13: 102,871,781 (GRCm39) E2529G probably damaging Het
Myh6 T C 14: 55,183,777 (GRCm39) H1719R possibly damaging Het
Myo5a A T 9: 75,101,259 (GRCm39) H150L probably benign Het
Naglu C T 11: 100,964,933 (GRCm39) probably benign Het
Nags G A 11: 102,036,530 (GRCm39) A40T unknown Het
Nav1 G T 1: 135,460,359 (GRCm39) Y321* probably null Het
Nav1 A T 1: 135,460,361 (GRCm39) Y321N probably damaging Het
Neu3 C T 7: 99,462,985 (GRCm39) S246N probably benign Het
Npy5r C T 8: 67,134,625 (GRCm39) G56D probably benign Het
Nrxn1 A G 17: 91,395,742 (GRCm39) V138A possibly damaging Het
Nuggc C T 14: 65,850,921 (GRCm39) Q264* probably null Het
Ogfod1 G A 8: 94,790,156 (GRCm39) probably null Het
Or1o11 T A 17: 37,756,757 (GRCm39) F115Y probably damaging Het
Or2t45 A T 11: 58,669,195 (GRCm39) M81L probably benign Het
Or5b101 A G 19: 13,005,663 (GRCm39) F10S probably damaging Het
Or5p66 A G 7: 107,885,478 (GRCm39) V285A probably benign Het
Per1 T A 11: 68,993,103 (GRCm39) I340N probably damaging Het
Pkhd1 C T 1: 20,451,771 (GRCm39) A2175T probably benign Het
Pogk A G 1: 166,231,171 (GRCm39) V52A probably damaging Het
Pou2af3 C T 9: 51,191,834 (GRCm39) probably benign Het
Ppib A T 9: 65,973,601 (GRCm39) T185S possibly damaging Het
Ptar1 G T 19: 23,697,563 (GRCm39) M358I probably damaging Het
Qser1 A C 2: 104,593,226 (GRCm39) I1597S probably damaging Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Repin1 C A 6: 48,574,459 (GRCm39) R460S probably damaging Het
Sfmbt1 T C 14: 30,509,574 (GRCm39) probably benign Het
Sh3rf1 C T 8: 61,846,696 (GRCm39) probably benign Het
Siglecf T A 7: 43,005,399 (GRCm39) V453D probably damaging Het
Slc2a9 A G 5: 38,610,512 (GRCm39) S96P probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Slf1 A G 13: 77,254,088 (GRCm39) probably benign Het
Smad1 T G 8: 80,076,411 (GRCm39) K269T probably benign Het
Srp54b G A 12: 55,296,884 (GRCm39) R194H probably damaging Het
St8sia6 T A 2: 13,670,247 (GRCm39) S238C probably damaging Het
Stat3 A T 11: 100,780,763 (GRCm39) probably benign Het
Tafa2 A T 10: 123,429,497 (GRCm39) H37L probably benign Het
Tas1r2 T A 4: 139,382,665 (GRCm39) M101K possibly damaging Het
Tesc A G 5: 118,191,647 (GRCm39) probably null Het
Tle3 T A 9: 61,317,353 (GRCm39) M334K probably damaging Het
Tmem151a A T 19: 5,132,261 (GRCm39) V315E probably damaging Het
Tmprss2 T C 16: 97,368,245 (GRCm39) D480G probably damaging Het
Trmt1 C A 8: 85,423,741 (GRCm39) probably null Het
Tsr3 T C 17: 25,461,198 (GRCm39) probably null Het
Ube2u A G 4: 100,338,845 (GRCm39) K37E probably benign Het
Usp16 T A 16: 87,272,334 (GRCm39) D382E probably damaging Het
Usp9y A T Y: 1,340,053 (GRCm39) F1442Y probably damaging Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Utp25 T C 1: 192,805,984 (GRCm39) E187G possibly damaging Het
V1ra8 C T 6: 90,179,991 (GRCm39) L65F possibly damaging Het
Vmn2r10 T C 5: 109,149,859 (GRCm39) N395S probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp330 G A 8: 83,491,511 (GRCm39) Q221* probably null Het
Other mutations in Shroom3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Shroom3 APN 5 93,098,924 (GRCm39) missense probably damaging 1.00
IGL01086:Shroom3 APN 5 93,096,311 (GRCm39) missense probably benign 0.01
IGL01363:Shroom3 APN 5 93,088,852 (GRCm39) missense probably benign 0.01
IGL01468:Shroom3 APN 5 93,088,201 (GRCm39) missense probably damaging 1.00
IGL01675:Shroom3 APN 5 93,089,539 (GRCm39) missense probably damaging 0.99
IGL01862:Shroom3 APN 5 93,110,148 (GRCm39) missense probably damaging 1.00
IGL01987:Shroom3 APN 5 93,090,048 (GRCm39) missense probably damaging 0.99
IGL02104:Shroom3 APN 5 93,088,248 (GRCm39) missense probably benign 0.32
IGL03248:Shroom3 APN 5 93,100,399 (GRCm39) missense probably benign 0.00
IGL03386:Shroom3 APN 5 93,096,342 (GRCm39) splice site probably benign
R0167:Shroom3 UTSW 5 93,096,254 (GRCm39) splice site probably benign
R0388:Shroom3 UTSW 5 93,099,152 (GRCm39) missense probably benign 0.39
R0567:Shroom3 UTSW 5 93,112,312 (GRCm39) missense possibly damaging 0.53
R1496:Shroom3 UTSW 5 93,090,693 (GRCm39) missense possibly damaging 0.69
R1772:Shroom3 UTSW 5 93,088,515 (GRCm39) missense probably damaging 0.97
R1845:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R1921:Shroom3 UTSW 5 93,110,224 (GRCm39) critical splice donor site probably null
R2059:Shroom3 UTSW 5 92,831,643 (GRCm39) missense probably damaging 1.00
R2203:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2204:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2205:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2301:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2344:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2345:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2346:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2348:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2371:Shroom3 UTSW 5 92,928,729 (GRCm39) missense probably damaging 1.00
R2435:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2829:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2830:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2831:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2897:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R2898:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3079:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3080:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3433:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3729:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3730:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3735:Shroom3 UTSW 5 93,112,303 (GRCm39) missense possibly damaging 0.84
R3736:Shroom3 UTSW 5 93,112,303 (GRCm39) missense possibly damaging 0.84
R3851:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3852:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3943:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R3969:Shroom3 UTSW 5 93,088,738 (GRCm39) missense probably benign 0.05
R4008:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4009:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4012:Shroom3 UTSW 5 93,096,342 (GRCm39) splice site probably benign
R4154:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4157:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4172:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4173:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4201:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4202:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4204:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4205:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4206:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4284:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4285:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4364:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4384:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4456:Shroom3 UTSW 5 93,088,858 (GRCm39) missense probably benign 0.14
R4707:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4712:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4751:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4755:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4760:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4773:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4774:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4776:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4801:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4802:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4856:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4857:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4860:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4860:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4882:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R4883:Shroom3 UTSW 5 93,098,993 (GRCm39) missense probably benign 0.14
R4886:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R5262:Shroom3 UTSW 5 93,112,432 (GRCm39) missense probably damaging 1.00
R5271:Shroom3 UTSW 5 93,110,107 (GRCm39) missense probably damaging 1.00
R5719:Shroom3 UTSW 5 93,090,877 (GRCm39) missense probably benign 0.04
R5726:Shroom3 UTSW 5 93,090,864 (GRCm39) missense probably benign 0.00
R5993:Shroom3 UTSW 5 93,088,047 (GRCm39) missense probably damaging 1.00
R6078:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R6079:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R6138:Shroom3 UTSW 5 93,090,945 (GRCm39) missense probably damaging 1.00
R6153:Shroom3 UTSW 5 93,112,267 (GRCm39) missense probably damaging 0.99
R6493:Shroom3 UTSW 5 93,089,420 (GRCm39) missense probably benign 0.03
R6495:Shroom3 UTSW 5 93,089,928 (GRCm39) missense possibly damaging 0.66
R6693:Shroom3 UTSW 5 93,088,617 (GRCm39) missense possibly damaging 0.61
R6801:Shroom3 UTSW 5 93,088,795 (GRCm39) missense probably damaging 1.00
R6893:Shroom3 UTSW 5 93,090,063 (GRCm39) missense probably damaging 0.97
R6912:Shroom3 UTSW 5 93,090,876 (GRCm39) missense probably benign 0.02
R6924:Shroom3 UTSW 5 93,112,262 (GRCm39) missense probably damaging 1.00
R7083:Shroom3 UTSW 5 93,112,384 (GRCm39) missense probably damaging 1.00
R7197:Shroom3 UTSW 5 93,090,463 (GRCm39) missense probably damaging 1.00
R7366:Shroom3 UTSW 5 93,112,465 (GRCm39) nonsense probably null
R7712:Shroom3 UTSW 5 93,098,806 (GRCm39) missense probably benign 0.01
R7725:Shroom3 UTSW 5 93,089,512 (GRCm39) missense probably benign 0.19
R7728:Shroom3 UTSW 5 92,831,566 (GRCm39) missense possibly damaging 0.73
R7774:Shroom3 UTSW 5 93,098,348 (GRCm39) missense probably damaging 0.98
R7795:Shroom3 UTSW 5 93,067,508 (GRCm39) missense probably damaging 0.99
R7821:Shroom3 UTSW 5 93,088,705 (GRCm39) missense probably damaging 0.98
R7971:Shroom3 UTSW 5 93,098,933 (GRCm39) missense probably damaging 1.00
R8276:Shroom3 UTSW 5 93,088,339 (GRCm39) missense probably damaging 0.99
R8934:Shroom3 UTSW 5 93,089,584 (GRCm39) missense probably damaging 1.00
R8938:Shroom3 UTSW 5 93,090,930 (GRCm39) missense probably damaging 1.00
R9083:Shroom3 UTSW 5 93,098,533 (GRCm39) missense probably damaging 0.97
R9108:Shroom3 UTSW 5 93,087,975 (GRCm39) missense probably damaging 1.00
R9124:Shroom3 UTSW 5 93,112,401 (GRCm39) missense probably benign 0.19
R9295:Shroom3 UTSW 5 93,098,478 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGATTACACTTTGGCCCGGTGC -3'
(R):5'- CCACCAGTCTTTTAGCCCTGAGTTG -3'

Sequencing Primer
(F):5'- GCTGGACACAGAGTCACTG -3'
(R):5'- CTGAGTTGTAGGCACAGCTAAC -3'
Posted On 2013-04-24