Incidental Mutation 'R8047:Grhl2'
ID 618833
Institutional Source Beutler Lab
Gene Symbol Grhl2
Ensembl Gene ENSMUSG00000022286
Gene Name grainyhead like transcription factor 2
Synonyms BOM, grainyheadlike, 0610015A08Rik, clft3, Tcfcp2l3
MMRRC Submission 067484-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8047 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 37233280-37363813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37336465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 454 (M454K)
Ref Sequence ENSEMBL: ENSMUSP00000022895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022895] [ENSMUST00000161405]
AlphaFold Q8K5C0
Predicted Effect probably benign
Transcript: ENSMUST00000022895
AA Change: M454K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: M454K

DomainStartEndE-ValueType
Pfam:CP2 214 438 8.5e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159221
AA Change: M23K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000161405
SMART Domains Protein: ENSMUSP00000125410
Gene: ENSMUSG00000022286

DomainStartEndE-ValueType
Pfam:CP2 209 434 2.1e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abce1 G A 8: 80,427,817 (GRCm39) T157I possibly damaging Het
Cd200l2 T C 16: 45,340,829 (GRCm39) I245V probably benign Het
Cdh22 G A 2: 165,012,687 (GRCm39) R133W probably damaging Het
Cep152 A T 2: 125,406,247 (GRCm39) N1428K probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Coch G A 12: 51,650,496 (GRCm39) probably null Het
D6Ertd527e G T 6: 87,088,454 (GRCm39) V206F unknown Het
Dnaaf9 A T 2: 130,617,019 (GRCm39) V439E probably damaging Het
Dock3 T C 9: 106,870,208 (GRCm39) I625M possibly damaging Het
Dpy19l4 A G 4: 11,317,139 (GRCm39) S20P probably benign Het
Eef1e1 T C 13: 38,830,222 (GRCm39) Q150R probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Engase T C 11: 118,377,282 (GRCm39) S526P probably benign Het
Fbxo40 T A 16: 36,790,231 (GRCm39) D293V probably damaging Het
Gipc3 T A 10: 81,177,132 (GRCm39) N146I probably damaging Het
Gm11569 T C 11: 99,689,616 (GRCm39) T28A unknown Het
Gm43302 T C 5: 105,422,623 (GRCm39) I470V possibly damaging Het
Gpihbp1 A G 15: 75,469,627 (GRCm39) Q114R possibly damaging Het
Gsap A T 5: 21,462,866 (GRCm39) probably null Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Kif1b C A 4: 149,299,379 (GRCm39) V1010L probably damaging Het
Krt8 A T 15: 101,912,406 (GRCm39) I90N probably damaging Het
Lrrc69 A T 4: 14,773,726 (GRCm39) I110N probably benign Het
Lta T C 17: 35,423,011 (GRCm39) Y104C probably damaging Het
Madd A G 2: 91,009,546 (GRCm39) Y13H probably damaging Het
Mccc2 C T 13: 100,091,181 (GRCm39) V439I probably benign Het
Mecom T A 3: 30,292,404 (GRCm39) D35V Het
Msra C T 14: 64,522,612 (GRCm39) A76T probably damaging Het
Myo18b G T 5: 112,871,681 (GRCm39) D2133E possibly damaging Het
Ncapd2 C T 6: 125,166,762 (GRCm39) V31M probably damaging Het
Npc1 A G 18: 12,346,374 (GRCm39) V274A probably benign Het
Or5m11b T C 2: 85,806,271 (GRCm39) I228T possibly damaging Het
Patz1 C T 11: 3,256,283 (GRCm39) P523L probably benign Het
Pbx2 T C 17: 34,814,262 (GRCm39) S350P probably benign Het
Plk4 T C 3: 40,760,187 (GRCm39) I361T probably benign Het
Ppat G T 5: 77,073,557 (GRCm39) N122K probably damaging Het
Prss23 T A 7: 89,159,136 (GRCm39) Q311L probably damaging Het
Psg26 G T 7: 18,212,474 (GRCm39) Q294K possibly damaging Het
Rab3il1 G T 19: 10,011,166 (GRCm39) R285L probably benign Het
Radil A G 5: 142,480,695 (GRCm39) C587R probably damaging Het
Rd3 A T 1: 191,709,620 (GRCm39) probably benign Het
Reck T C 4: 43,927,221 (GRCm39) L504P probably damaging Het
Rmc1 C T 18: 12,313,586 (GRCm39) T233M possibly damaging Het
Selenov A C 7: 27,990,108 (GRCm39) L132R probably benign Het
Spag16 A T 1: 69,882,155 (GRCm39) D49V probably damaging Het
Ston2 C T 12: 91,608,617 (GRCm39) V828I probably damaging Het
Tiam1 A G 16: 89,694,672 (GRCm39) S262P probably benign Het
Tlnrd1 A T 7: 83,532,069 (GRCm39) S121T probably damaging Het
Unc13c T A 9: 73,719,636 (GRCm39) K1011* probably null Het
Vmn2r89 T A 14: 51,692,549 (GRCm39) D117E probably benign Het
Zbtb7c A C 18: 76,270,221 (GRCm39) N103T probably damaging Het
Zfp764 T C 7: 127,005,412 (GRCm39) E75G probably damaging Het
Other mutations in Grhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Grhl2 APN 15 37,336,545 (GRCm39) missense probably damaging 1.00
IGL01730:Grhl2 APN 15 37,338,018 (GRCm39) missense probably benign 0.00
IGL02140:Grhl2 APN 15 37,270,830 (GRCm39) splice site probably benign
IGL02307:Grhl2 APN 15 37,288,532 (GRCm39) missense probably damaging 1.00
IGL02375:Grhl2 APN 15 37,291,821 (GRCm39) missense probably damaging 1.00
IGL02508:Grhl2 APN 15 37,310,009 (GRCm39) splice site probably benign
clayton UTSW 15 37,291,920 (GRCm39) splice site probably null
R0462:Grhl2 UTSW 15 37,344,919 (GRCm39) missense probably benign 0.00
R1421:Grhl2 UTSW 15 37,309,960 (GRCm39) missense probably damaging 1.00
R1548:Grhl2 UTSW 15 37,336,567 (GRCm39) missense probably benign 0.32
R1912:Grhl2 UTSW 15 37,358,651 (GRCm39) missense probably damaging 1.00
R1960:Grhl2 UTSW 15 37,336,558 (GRCm39) missense probably damaging 1.00
R3110:Grhl2 UTSW 15 37,336,591 (GRCm39) critical splice donor site probably null
R3112:Grhl2 UTSW 15 37,336,591 (GRCm39) critical splice donor site probably null
R4261:Grhl2 UTSW 15 37,361,067 (GRCm39) missense possibly damaging 0.64
R4830:Grhl2 UTSW 15 37,335,903 (GRCm39) splice site probably null
R4910:Grhl2 UTSW 15 37,291,920 (GRCm39) splice site probably null
R4929:Grhl2 UTSW 15 37,361,046 (GRCm39) missense probably benign
R4952:Grhl2 UTSW 15 37,287,493 (GRCm39) missense probably benign 0.13
R5742:Grhl2 UTSW 15 37,328,616 (GRCm39) missense probably damaging 1.00
R7142:Grhl2 UTSW 15 37,279,826 (GRCm39) missense probably benign 0.05
R7208:Grhl2 UTSW 15 37,335,980 (GRCm39) missense probably damaging 1.00
R7466:Grhl2 UTSW 15 37,291,860 (GRCm39) missense probably damaging 1.00
R7519:Grhl2 UTSW 15 37,336,556 (GRCm39) missense probably damaging 1.00
R7538:Grhl2 UTSW 15 37,328,603 (GRCm39) missense probably damaging 1.00
R7637:Grhl2 UTSW 15 37,328,574 (GRCm39) missense probably damaging 0.96
R8027:Grhl2 UTSW 15 37,279,727 (GRCm39) missense probably benign
R8555:Grhl2 UTSW 15 37,233,507 (GRCm39) intron probably benign
R8818:Grhl2 UTSW 15 37,270,912 (GRCm39) missense probably damaging 1.00
R9117:Grhl2 UTSW 15 37,270,912 (GRCm39) missense probably damaging 1.00
R9339:Grhl2 UTSW 15 37,344,904 (GRCm39) missense probably benign 0.00
Z1177:Grhl2 UTSW 15 37,333,531 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCACGTTGAATGGATTCTCC -3'
(R):5'- CGAAGGAGAGTTGTAGTCTGC -3'

Sequencing Primer
(F):5'- GAATGGATTCTCCTAGGATCCCATG -3'
(R):5'- AGTCTGCTCTGTTGGCCG -3'
Posted On 2020-01-23