Incidental Mutation 'R7466:Grhl2'
ID 578806
Institutional Source Beutler Lab
Gene Symbol Grhl2
Ensembl Gene ENSMUSG00000022286
Gene Name grainyhead like transcription factor 2
Synonyms BOM, Tcfcp2l3, grainyheadlike, 0610015A08Rik
MMRRC Submission 045540-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7466 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 37233036-37363569 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37291616 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 316 (Y316C)
Ref Sequence ENSEMBL: ENSMUSP00000022895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022895] [ENSMUST00000161405]
AlphaFold Q8K5C0
Predicted Effect probably damaging
Transcript: ENSMUST00000022895
AA Change: Y316C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: Y316C

DomainStartEndE-ValueType
Pfam:CP2 214 438 8.5e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161405
AA Change: Y316C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125410
Gene: ENSMUSG00000022286
AA Change: Y316C

DomainStartEndE-ValueType
Pfam:CP2 209 434 2.1e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,088,741 (GRCm38) K203* probably null Het
Akr1c13 T C 13: 4,192,437 (GRCm38) probably benign Het
Amer3 A G 1: 34,587,993 (GRCm38) S438G probably damaging Het
Aqp9 T A 9: 71,163,261 (GRCm38) probably null Het
Art4 G T 6: 136,854,850 (GRCm38) H98N probably damaging Het
Bdh1 T C 16: 31,447,604 (GRCm38) S70P probably benign Het
Ccdc61 A C 7: 18,891,105 (GRCm38) Y503D probably damaging Het
Cd163l1 T C 7: 140,220,706 (GRCm38) probably null Het
Cd180 A T 13: 102,704,995 (GRCm38) N183I probably damaging Het
Cd200r2 C T 16: 44,909,174 (GRCm38) A64V probably damaging Het
Ceacam9 A C 7: 16,723,855 (GRCm38) K98Q probably benign Het
Cep44 AACGC A 8: 56,540,983 (GRCm38) probably null Het
Cfap77 G T 2: 28,955,613 (GRCm38) D247E probably benign Het
Cftr T C 6: 18,227,973 (GRCm38) M388T probably benign Het
Chrnb1 G A 11: 69,784,650 (GRCm38) H493Y probably damaging Het
Ckap2 A C 8: 22,177,386 (GRCm38) M153R probably benign Het
Cnot6l A G 5: 96,131,128 (GRCm38) V77A probably benign Het
Col12a1 C T 9: 79,655,407 (GRCm38) E1798K possibly damaging Het
Cth T A 3: 157,924,885 (GRCm38) D49V probably benign Het
Ctnnb1 T C 9: 120,955,416 (GRCm38) S425P probably damaging Het
Ctnnd1 T C 2: 84,610,785 (GRCm38) N690S probably benign Het
Cyhr1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Dennd4c A G 4: 86,774,331 (GRCm38) D26G probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Eef2k A G 7: 120,903,484 (GRCm38) probably null Het
Ephb2 C T 4: 136,659,065 (GRCm38) R791H probably damaging Het
Erh T C 12: 80,640,983 (GRCm38) Y22C probably benign Het
F5 C T 1: 164,193,328 (GRCm38) T1124I possibly damaging Het
Fam220a T A 5: 143,563,471 (GRCm38) C213S possibly damaging Het
Fat2 G T 11: 55,310,432 (GRCm38) N605K probably damaging Het
Ganab C A 19: 8,914,569 (GRCm38) S780* probably null Het
Gbgt1 C T 2: 28,502,207 (GRCm38) P67S probably damaging Het
Gm17190 G T 13: 96,082,779 (GRCm38) G208* probably null Het
H2-T10 T C 17: 36,120,849 (GRCm38) T38A probably benign Het
Ins1 A G 19: 52,264,420 (GRCm38) probably benign Het
Ippk T C 13: 49,432,467 (GRCm38) probably null Het
Klc4 T A 17: 46,639,910 (GRCm38) I258F probably benign Het
Manba C A 3: 135,542,393 (GRCm38) L348I probably benign Het
Mgam A G 6: 40,744,789 (GRCm38) N347S probably benign Het
Myo18b T C 5: 112,723,892 (GRCm38) T2108A probably benign Het
Naip5 A T 13: 100,221,986 (GRCm38) L914* probably null Het
Nsa2 C T 13: 97,131,220 (GRCm38) A242T probably benign Het
Nsd2 G A 5: 33,882,147 (GRCm38) W834* probably null Het
Olfr1134 T C 2: 87,656,396 (GRCm38) N175S possibly damaging Het
Olfr1419 T A 19: 11,870,316 (GRCm38) D300V possibly damaging Het
Olfr285 T C 15: 98,313,380 (GRCm38) M57V probably damaging Het
Olfr469 A T 7: 107,822,922 (GRCm38) C182* probably null Het
Pam A T 1: 97,842,247 (GRCm38) D599E probably damaging Het
Phf20l1 A G 15: 66,636,884 (GRCm38) K864R probably damaging Het
Plcl2 A G 17: 50,608,468 (GRCm38) D835G probably damaging Het
Ppm1m C A 9: 106,196,157 (GRCm38) A329S probably damaging Het
Prep T C 10: 45,150,438 (GRCm38) V486A probably benign Het
Prkcb A T 7: 122,516,844 (GRCm38) N182I probably damaging Het
Prkcz A G 4: 155,271,602 (GRCm38) F355S probably damaging Het
Psg20 C T 7: 18,684,467 (GRCm38) S125N probably benign Het
Psmd12 A G 11: 107,492,057 (GRCm38) D234G probably benign Het
Pvrig A T 5: 138,342,008 (GRCm38) M14L probably benign Het
Rabgap1l C T 1: 160,226,484 (GRCm38) probably null Het
Rfc1 A T 5: 65,275,426 (GRCm38) C764S probably damaging Het
Ryr3 T C 2: 112,926,957 (GRCm38) D351G probably benign Het
Serpinb9g T C 13: 33,495,167 (GRCm38) F340S probably benign Het
Sirpb1c C A 3: 15,832,266 (GRCm38) L315F probably damaging Het
Slc24a1 C G 9: 64,928,404 (GRCm38) E814Q unknown Het
Slc26a11 A T 11: 119,374,502 (GRCm38) Q355L probably damaging Het
Sp100 C T 1: 85,707,239 (GRCm38) L483F possibly damaging Het
St5 A G 7: 109,525,346 (GRCm38) L1096P probably damaging Het
Ston1 T A 17: 88,635,901 (GRCm38) M245K probably benign Het
Swap70 T A 7: 110,274,772 (GRCm38) D442E probably benign Het
Syne2 T A 12: 76,046,186 (GRCm38) V450D possibly damaging Het
Tbck T A 3: 132,752,563 (GRCm38) N651K probably damaging Het
Timd4 A T 11: 46,817,758 (GRCm38) T204S probably benign Het
Tmem102 A G 11: 69,804,885 (GRCm38) L87P probably damaging Het
Tmem55a T A 4: 14,912,477 (GRCm38) Y195* probably null Het
Tmprss11e T A 5: 86,709,480 (GRCm38) T325S probably benign Het
Trpm1 G A 7: 64,240,582 (GRCm38) V978M probably damaging Het
Wdr12 A T 1: 60,094,511 (GRCm38) D19E probably benign Het
Wdr35 G A 12: 9,005,773 (GRCm38) V482I probably benign Het
Wdr63 T C 3: 146,055,618 (GRCm38) D661G probably benign Het
Zer1 T C 2: 30,101,484 (GRCm38) probably null Het
Zfp503 T C 14: 21,986,011 (GRCm38) D279G probably benign Het
Zfp870 A T 17: 32,883,762 (GRCm38) C198S possibly damaging Het
Zfyve26 C T 12: 79,287,807 (GRCm38) E146K probably benign Het
Zkscan6 T C 11: 65,828,531 (GRCm38) V459A probably damaging Het
Other mutations in Grhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Grhl2 APN 15 37,336,301 (GRCm38) missense probably damaging 1.00
IGL01730:Grhl2 APN 15 37,337,774 (GRCm38) missense probably benign 0.00
IGL02140:Grhl2 APN 15 37,270,586 (GRCm38) splice site probably benign
IGL02307:Grhl2 APN 15 37,288,288 (GRCm38) missense probably damaging 1.00
IGL02375:Grhl2 APN 15 37,291,577 (GRCm38) missense probably damaging 1.00
IGL02508:Grhl2 APN 15 37,309,765 (GRCm38) splice site probably benign
clayton UTSW 15 37,291,676 (GRCm38) splice site probably null
R0462:Grhl2 UTSW 15 37,344,675 (GRCm38) missense probably benign 0.00
R1421:Grhl2 UTSW 15 37,309,716 (GRCm38) missense probably damaging 1.00
R1548:Grhl2 UTSW 15 37,336,323 (GRCm38) missense probably benign 0.32
R1912:Grhl2 UTSW 15 37,358,407 (GRCm38) missense probably damaging 1.00
R1960:Grhl2 UTSW 15 37,336,314 (GRCm38) missense probably damaging 1.00
R3110:Grhl2 UTSW 15 37,336,347 (GRCm38) critical splice donor site probably null
R3112:Grhl2 UTSW 15 37,336,347 (GRCm38) critical splice donor site probably null
R4261:Grhl2 UTSW 15 37,360,823 (GRCm38) missense possibly damaging 0.64
R4830:Grhl2 UTSW 15 37,335,659 (GRCm38) splice site probably null
R4910:Grhl2 UTSW 15 37,291,676 (GRCm38) splice site probably null
R4929:Grhl2 UTSW 15 37,360,802 (GRCm38) missense probably benign
R4952:Grhl2 UTSW 15 37,287,249 (GRCm38) missense probably benign 0.13
R5742:Grhl2 UTSW 15 37,328,372 (GRCm38) missense probably damaging 1.00
R7142:Grhl2 UTSW 15 37,279,582 (GRCm38) missense probably benign 0.05
R7208:Grhl2 UTSW 15 37,335,736 (GRCm38) missense probably damaging 1.00
R7519:Grhl2 UTSW 15 37,336,312 (GRCm38) missense probably damaging 1.00
R7538:Grhl2 UTSW 15 37,328,359 (GRCm38) missense probably damaging 1.00
R7637:Grhl2 UTSW 15 37,328,330 (GRCm38) missense probably damaging 0.96
R8027:Grhl2 UTSW 15 37,279,483 (GRCm38) missense probably benign
R8047:Grhl2 UTSW 15 37,336,221 (GRCm38) missense probably benign 0.00
R8555:Grhl2 UTSW 15 37,233,263 (GRCm38) intron probably benign
R8818:Grhl2 UTSW 15 37,270,668 (GRCm38) missense probably damaging 1.00
R9117:Grhl2 UTSW 15 37,270,668 (GRCm38) missense probably damaging 1.00
R9339:Grhl2 UTSW 15 37,344,660 (GRCm38) missense probably benign 0.00
Z1177:Grhl2 UTSW 15 37,333,287 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTGCTGCAGTCTCTGGATTTA -3'
(R):5'- AACGTCACAGGTCACATGTAC -3'

Sequencing Primer
(F):5'- TGCCCTGAAGACTCAGCTG -3'
(R):5'- GTACAATTCAGTGCCTGGCATAGC -3'
Posted On 2019-10-07