Incidental Mutation 'R4521:Grhl3'
ID 334213
Institutional Source Beutler Lab
Gene Symbol Grhl3
Ensembl Gene ENSMUSG00000037188
Gene Name grainyhead like transcription factor 3
Synonyms ct, Som, Get1
MMRRC Submission 041764-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R4521 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 135269199-135300941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135273561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 564 (K564E)
Ref Sequence ENSEMBL: ENSMUSP00000101481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105855]
AlphaFold Q5FWH3
Predicted Effect probably damaging
Transcript: ENSMUST00000105855
AA Change: K564E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: K564E

DomainStartEndE-ValueType
Pfam:CP2 215 421 2.5e-81 PFAM
Meta Mutation Damage Score 0.4031 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Bora G T 14: 99,305,984 (GRCm39) S451I probably damaging Het
Cadm3 A T 1: 173,172,630 (GRCm39) probably null Het
Car14 A G 3: 95,811,690 (GRCm39) probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdc20b A G 13: 113,217,725 (GRCm39) I381M probably damaging Het
Col12a1 C T 9: 79,540,639 (GRCm39) V2449I probably benign Het
Crb2 T C 2: 37,685,349 (GRCm39) probably benign Het
Dcaf6 A T 1: 165,218,059 (GRCm39) D347E probably damaging Het
Dlgap2 G A 8: 14,777,871 (GRCm39) R372H probably damaging Het
Fat3 T C 9: 15,834,238 (GRCm39) N4118S probably null Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fpr2 A C 17: 18,113,509 (GRCm39) R168S probably benign Het
Ghr A G 15: 3,355,440 (GRCm39) I281T probably damaging Het
Glmp C A 3: 88,235,346 (GRCm39) N259K possibly damaging Het
Helz2 T C 2: 180,870,626 (GRCm39) H2875R probably benign Het
Lcp1 A G 14: 75,452,608 (GRCm39) D438G possibly damaging Het
Lrfn2 T A 17: 49,376,922 (GRCm39) M1K probably null Het
Lrp6 A G 6: 134,462,825 (GRCm39) C612R probably damaging Het
Map3k13 T C 16: 21,724,525 (GRCm39) V341A possibly damaging Het
Megf8 T A 7: 25,042,126 (GRCm39) C1315S probably benign Het
Mrgpra9 A T 7: 46,884,938 (GRCm39) L243H probably damaging Het
Mrgprx1 T C 7: 47,671,447 (GRCm39) D100G probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nup93 T C 8: 95,041,264 (GRCm39) Y801H probably damaging Het
Or51b6b C T 7: 103,309,539 (GRCm39) R306H probably benign Het
Or6c69b T A 10: 129,627,050 (GRCm39) N136I possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Plpp2 A G 10: 79,366,459 (GRCm39) Y118H probably damaging Het
Ppwd1 A G 13: 104,346,167 (GRCm39) V496A probably benign Het
Rbm20 A G 19: 53,805,633 (GRCm39) N466S probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Skida1 T C 2: 18,050,683 (GRCm39) probably benign Het
Stk17b A G 1: 53,803,197 (GRCm39) Y73H probably damaging Het
Tapbpl A G 6: 125,205,085 (GRCm39) I287T probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Topbp1 T C 9: 103,211,401 (GRCm39) probably benign Het
Tsen54 G A 11: 115,707,932 (GRCm39) probably null Het
Ttn G A 2: 76,555,560 (GRCm39) R28736* probably null Het
Wdr36 G A 18: 32,974,201 (GRCm39) probably null Het
Other mutations in Grhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02638:Grhl3 APN 4 135,284,176 (GRCm39) missense probably benign 0.00
IGL02868:Grhl3 APN 4 135,281,915 (GRCm39) missense probably damaging 1.00
Bite-size UTSW 4 135,284,744 (GRCm39) missense possibly damaging 0.46
hammerkop UTSW 4 135,273,557 (GRCm39) missense probably damaging 1.00
hoopoe UTSW 4 135,286,457 (GRCm39) missense probably benign 0.00
Tropicbird UTSW 4 135,286,415 (GRCm39) nonsense probably null
R0121:Grhl3 UTSW 4 135,279,860 (GRCm39) missense probably damaging 0.97
R0180:Grhl3 UTSW 4 135,281,841 (GRCm39) missense probably benign 0.00
R0627:Grhl3 UTSW 4 135,279,992 (GRCm39) missense probably benign 0.18
R0727:Grhl3 UTSW 4 135,273,565 (GRCm39) missense possibly damaging 0.90
R1248:Grhl3 UTSW 4 135,288,617 (GRCm39) missense probably benign 0.01
R1664:Grhl3 UTSW 4 135,279,861 (GRCm39) missense probably benign 0.11
R2910:Grhl3 UTSW 4 135,286,457 (GRCm39) missense probably benign 0.00
R2911:Grhl3 UTSW 4 135,286,457 (GRCm39) missense probably benign 0.00
R3773:Grhl3 UTSW 4 135,283,158 (GRCm39) nonsense probably null
R4033:Grhl3 UTSW 4 135,300,735 (GRCm39) start codon destroyed probably benign
R4576:Grhl3 UTSW 4 135,288,562 (GRCm39) missense probably damaging 1.00
R4650:Grhl3 UTSW 4 135,276,547 (GRCm39) splice site probably null
R4697:Grhl3 UTSW 4 135,275,777 (GRCm39) missense probably damaging 1.00
R4919:Grhl3 UTSW 4 135,286,415 (GRCm39) nonsense probably null
R4920:Grhl3 UTSW 4 135,286,415 (GRCm39) nonsense probably null
R4961:Grhl3 UTSW 4 135,279,918 (GRCm39) missense probably damaging 1.00
R5100:Grhl3 UTSW 4 135,269,986 (GRCm39) missense probably benign
R5180:Grhl3 UTSW 4 135,286,415 (GRCm39) nonsense probably null
R5181:Grhl3 UTSW 4 135,286,415 (GRCm39) nonsense probably null
R5325:Grhl3 UTSW 4 135,286,415 (GRCm39) nonsense probably null
R6429:Grhl3 UTSW 4 135,284,507 (GRCm39) missense probably damaging 0.99
R6459:Grhl3 UTSW 4 135,284,744 (GRCm39) missense possibly damaging 0.46
R7047:Grhl3 UTSW 4 135,276,551 (GRCm39) splice site probably null
R7073:Grhl3 UTSW 4 135,300,723 (GRCm39) missense probably benign 0.00
R7345:Grhl3 UTSW 4 135,273,557 (GRCm39) missense probably damaging 1.00
R7797:Grhl3 UTSW 4 135,286,416 (GRCm39) missense possibly damaging 0.93
R7829:Grhl3 UTSW 4 135,288,532 (GRCm39) missense probably damaging 0.98
R8023:Grhl3 UTSW 4 135,277,640 (GRCm39) missense probably benign
R8472:Grhl3 UTSW 4 135,284,176 (GRCm39) missense probably benign 0.00
R8499:Grhl3 UTSW 4 135,276,549 (GRCm39) critical splice donor site probably null
R8766:Grhl3 UTSW 4 135,300,724 (GRCm39) missense probably benign 0.00
R8836:Grhl3 UTSW 4 135,288,640 (GRCm39) missense probably damaging 1.00
R9466:Grhl3 UTSW 4 135,283,412 (GRCm39) missense probably benign 0.06
Z1177:Grhl3 UTSW 4 135,279,997 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCACTTGTGAGAAGACCCTTGC -3'
(R):5'- TCCCCAGGGAAATAGGATCATTG -3'

Sequencing Primer
(F):5'- TGTGAGAAGACCCTTGCACCTC -3'
(R):5'- CCAGGGAAATAGGATCATTGTAATTC -3'
Posted On 2015-08-18