Incidental Mutation 'R7047:Grhl3'
ID 568436
Institutional Source Beutler Lab
Gene Symbol Grhl3
Ensembl Gene ENSMUSG00000037188
Gene Name grainyhead like transcription factor 3
Synonyms ct, Som, Get1
MMRRC Submission 045145-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R7047 (G1)
Quality Score 224.009
Status Validated
Chromosome 4
Chromosomal Location 135269199-135300941 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 135276551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105855]
AlphaFold Q5FWH3
Predicted Effect probably null
Transcript: ENSMUST00000105855
SMART Domains Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188

DomainStartEndE-ValueType
Pfam:CP2 215 421 2.5e-81 PFAM
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
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
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sacs A T 14: 61,450,451 (GRCm39) I4166F probably damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) probably benign 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
R6459:Grhl3 UTSW 4 135,284,744 (GRCm39) missense possibly damaging 0.46
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'- GAGAGCCATGTCCAAACAGG -3'
(R):5'- AACACGCTGTTAGCCTTTCCTG -3'

Sequencing Primer
(F):5'- GGTCAAAGCCACAGATGTCCTTC -3'
(R):5'- GGTTCCTGCTCTGCCCTAAGG -3'
Posted On 2019-07-19