Incidental Mutation 'R6459:Grhl3'
ID 517506
Institutional Source Beutler Lab
Gene Symbol Grhl3
Ensembl Gene ENSMUSG00000037188
Gene Name grainyhead like transcription factor 3
Synonyms ct, Som, Get1
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R6459 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135269199-135300941 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135284744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 116 (N116S)
Ref Sequence ENSEMBL: ENSMUSP00000101481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105855]
AlphaFold Q5FWH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000105855
AA Change: N116S

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: N116S

DomainStartEndE-ValueType
Pfam:CP2 215 421 2.5e-81 PFAM
Meta Mutation Damage Score 0.1081 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cldn13 T C 5: 134,943,769 (GRCm39) T139A possibly damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Or8k41 T A 2: 86,313,573 (GRCm39) H171L probably benign Het
Pak1 A G 7: 97,557,088 (GRCm39) D495G probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Slc25a16 C T 10: 62,773,256 (GRCm39) Q164* probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Tarbp2 A G 15: 102,426,914 (GRCm39) probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L possibly damaging 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
R4521:Grhl3 UTSW 4 135,273,561 (GRCm39) missense probably damaging 1.00
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
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'- TGGAACCCCATGAATGCTC -3'
(R):5'- GTCTAGCTTCTCACATGCCAG -3'

Sequencing Primer
(F):5'- GAGGGAGCCATTGTCATATATGTCAC -3'
(R):5'- TTCTCACATGCCAGGAGGG -3'
Posted On 2018-05-21