Incidental Mutation 'R4697:Grhl3'
ID 355760
Institutional Source Beutler Lab
Gene Symbol Grhl3
Ensembl Gene ENSMUSG00000037188
Gene Name grainyhead like transcription factor 3
Synonyms Som, ct, Get1
MMRRC Submission 041947-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 135541888-135573630 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135548466 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 527 (V527M)
Ref Sequence ENSEMBL: ENSMUSP00000101481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105855]
AlphaFold Q5FWH3
Predicted Effect probably damaging
Transcript: ENSMUST00000105855
AA Change: V527M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: V527M

DomainStartEndE-ValueType
Pfam:CP2 215 421 2.5e-81 PFAM
Meta Mutation Damage Score 0.2534 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 (GRCm38) I455N probably damaging Het
A2m T C 6: 121,638,284 (GRCm38) M1T probably null Het
Aatf T A 11: 84,449,138 (GRCm38) D449V probably damaging Het
Acbd3 T A 1: 180,721,944 (GRCm38) probably benign Het
BC005561 A G 5: 104,522,240 (GRCm38) K1543E probably benign Het
Bicc1 T A 10: 70,953,484 (GRCm38) I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 (GRCm38) S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 (GRCm38) V401A probably damaging Het
Cux2 T C 5: 121,873,753 (GRCm38) T540A probably damaging Het
Disp2 G T 2: 118,791,684 (GRCm38) E966* probably null Het
Dpp7 A G 2: 25,354,919 (GRCm38) Y209H probably benign Het
Dstyk T A 1: 132,449,487 (GRCm38) F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 (GRCm38) probably null Het
Ear-ps2 G A 14: 44,047,060 (GRCm38) noncoding transcript Het
Ednra T C 8: 77,664,995 (GRCm38) H422R probably benign Het
Erlec1 T A 11: 30,952,640 (GRCm38) I67F probably benign Het
Fam161b G A 12: 84,348,558 (GRCm38) probably benign Het
Gata5 A T 2: 180,327,379 (GRCm38) C345* probably null Het
Glmp T C 3: 88,328,274 (GRCm38) V47A probably damaging Het
Gm9762 T A 3: 78,966,550 (GRCm38) noncoding transcript Het
Gnas A T 2: 174,298,080 (GRCm38) D14V probably damaging Het
Gnl3 T C 14: 31,017,329 (GRCm38) S53G probably damaging Het
Hoxd10 T A 2: 74,694,187 (GRCm38) L281* probably null Het
Kif16b T G 2: 142,690,694 (GRCm38) Y1175S probably benign Het
Kif2b A G 11: 91,576,846 (GRCm38) S204P probably benign Het
Klhl40 T A 9: 121,778,734 (GRCm38) I320N probably damaging Het
Ksr2 G A 5: 117,708,147 (GRCm38) R693Q probably damaging Het
Mis12 A G 11: 71,025,326 (GRCm38) K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 (GRCm38) C102R probably damaging Het
Muc5b T C 7: 141,857,361 (GRCm38) I1348T unknown Het
Myh7b A G 2: 155,629,322 (GRCm38) E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 (GRCm38) T52A probably benign Het
Nxpe2 C A 9: 48,320,521 (GRCm38) V379L probably benign Het
Olfr1231 C A 2: 89,302,902 (GRCm38) S230I possibly damaging Het
Olfr1231 T A 2: 89,302,903 (GRCm38) S230C probably damaging Het
Olfr1448 C T 19: 12,919,934 (GRCm38) C125Y probably damaging Het
Olfr1465 A T 19: 13,313,717 (GRCm38) D189E probably benign Het
Olfr288 G A 15: 98,186,868 (GRCm38) R310W probably damaging Het
Pcdhga7 A T 18: 37,717,208 (GRCm38) Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 (GRCm38) Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 (GRCm38) V1367A possibly damaging Het
Postn T A 3: 54,375,071 (GRCm38) N484K probably damaging Het
Prkd3 C T 17: 78,961,171 (GRCm38) V572I probably benign Het
Qser1 T C 2: 104,787,183 (GRCm38) S1005G probably benign Het
Radil G T 5: 142,486,801 (GRCm38) D951E probably benign Het
Ripk1 C T 13: 34,027,942 (GRCm38) R352* probably null Het
Sacs T C 14: 61,212,747 (GRCm38) F4081L probably benign Het
Sbf1 A G 15: 89,315,085 (GRCm38) V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 (GRCm38) F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 (GRCm38) L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 (GRCm38) P71L probably benign Het
Spns1 T A 7: 126,377,037 (GRCm38) D14V probably damaging Het
Sv2c T A 13: 95,986,018 (GRCm38) I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 (GRCm38) M169K probably benign Het
Tgm1 A T 14: 55,705,681 (GRCm38) N567K probably benign Het
Tln2 C T 9: 67,395,461 (GRCm38) R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 (GRCm38) V1340A probably benign Het
Tspan18 A T 2: 93,312,030 (GRCm38) probably null Het
Txndc11 C T 16: 11,084,314 (GRCm38) V679I probably damaging Het
Usf1 G T 1: 171,416,964 (GRCm38) G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 (GRCm38) Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 (GRCm38) I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 (GRCm38) I850F probably damaging Het
Wdr90 C T 17: 25,855,363 (GRCm38) R676H probably benign Het
Zfp867 G A 11: 59,463,661 (GRCm38) R281W probably damaging Het
Zfp939 T C 7: 39,472,942 (GRCm38) noncoding transcript Het
Other mutations in Grhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Grhl3 APN 4 135,556,865 (GRCm38) missense probably benign 0.00
IGL02868:Grhl3 APN 4 135,554,604 (GRCm38) missense probably damaging 1.00
Bite-size UTSW 4 135,557,433 (GRCm38) missense possibly damaging 0.46
hammerkop UTSW 4 135,546,246 (GRCm38) missense probably damaging 1.00
hoopoe UTSW 4 135,559,146 (GRCm38) missense probably benign 0.00
Tropicbird UTSW 4 135,559,104 (GRCm38) nonsense probably null
R0121:Grhl3 UTSW 4 135,552,549 (GRCm38) missense probably damaging 0.97
R0180:Grhl3 UTSW 4 135,554,530 (GRCm38) missense probably benign 0.00
R0627:Grhl3 UTSW 4 135,552,681 (GRCm38) missense probably benign 0.18
R0727:Grhl3 UTSW 4 135,546,254 (GRCm38) missense possibly damaging 0.90
R1248:Grhl3 UTSW 4 135,561,306 (GRCm38) missense probably benign 0.01
R1664:Grhl3 UTSW 4 135,552,550 (GRCm38) missense probably benign 0.11
R2910:Grhl3 UTSW 4 135,559,146 (GRCm38) missense probably benign 0.00
R2911:Grhl3 UTSW 4 135,559,146 (GRCm38) missense probably benign 0.00
R3773:Grhl3 UTSW 4 135,555,847 (GRCm38) nonsense probably null
R4033:Grhl3 UTSW 4 135,573,424 (GRCm38) start codon destroyed probably benign
R4521:Grhl3 UTSW 4 135,546,250 (GRCm38) missense probably damaging 1.00
R4576:Grhl3 UTSW 4 135,561,251 (GRCm38) missense probably damaging 1.00
R4650:Grhl3 UTSW 4 135,549,236 (GRCm38) splice site probably null
R4919:Grhl3 UTSW 4 135,559,104 (GRCm38) nonsense probably null
R4920:Grhl3 UTSW 4 135,559,104 (GRCm38) nonsense probably null
R4961:Grhl3 UTSW 4 135,552,607 (GRCm38) missense probably damaging 1.00
R5100:Grhl3 UTSW 4 135,542,675 (GRCm38) missense probably benign
R5180:Grhl3 UTSW 4 135,559,104 (GRCm38) nonsense probably null
R5181:Grhl3 UTSW 4 135,559,104 (GRCm38) nonsense probably null
R5325:Grhl3 UTSW 4 135,559,104 (GRCm38) nonsense probably null
R6429:Grhl3 UTSW 4 135,557,196 (GRCm38) missense probably damaging 0.99
R6459:Grhl3 UTSW 4 135,557,433 (GRCm38) missense possibly damaging 0.46
R7047:Grhl3 UTSW 4 135,549,240 (GRCm38) splice site probably null
R7073:Grhl3 UTSW 4 135,573,412 (GRCm38) missense probably benign 0.00
R7345:Grhl3 UTSW 4 135,546,246 (GRCm38) missense probably damaging 1.00
R7797:Grhl3 UTSW 4 135,559,105 (GRCm38) missense possibly damaging 0.93
R7829:Grhl3 UTSW 4 135,561,221 (GRCm38) missense probably damaging 0.98
R8023:Grhl3 UTSW 4 135,550,329 (GRCm38) missense probably benign
R8472:Grhl3 UTSW 4 135,556,865 (GRCm38) missense probably benign 0.00
R8499:Grhl3 UTSW 4 135,549,238 (GRCm38) critical splice donor site probably null
R8766:Grhl3 UTSW 4 135,573,413 (GRCm38) missense probably benign 0.00
R8836:Grhl3 UTSW 4 135,561,329 (GRCm38) missense probably damaging 1.00
R9466:Grhl3 UTSW 4 135,556,101 (GRCm38) missense probably benign 0.06
Z1177:Grhl3 UTSW 4 135,552,686 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GAAACAGGTTTGCAAAGCCAAC -3'
(R):5'- TCAAACTCCGGCAAAGCAGG -3'

Sequencing Primer
(F):5'- TGACTCTCAGGGTGGAGCAG -3'
(R):5'- GCAAAGCAGGGCAGTTTG -3'
Posted On 2015-10-21