Incidental Mutation 'IGL02375:Grhl2'
ID291048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grhl2
Ensembl Gene ENSMUSG00000022286
Gene Namegrainyhead like transcription factor 2
SynonymsBOM, Tcfcp2l3, grainyheadlike, 0610015A08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02375
Quality Score
Status
Chromosome15
Chromosomal Location37233036-37363569 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37291577 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 303 (V303A)
Ref Sequence ENSEMBL: ENSMUSP00000125410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022895] [ENSMUST00000161405]
Predicted Effect probably damaging
Transcript: ENSMUST00000022895
AA Change: V303A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: V303A

DomainStartEndE-ValueType
Pfam:CP2 214 438 8.5e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161405
AA Change: V303A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125410
Gene: ENSMUSG00000022286
AA Change: V303A

DomainStartEndE-ValueType
Pfam:CP2 209 434 2.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228589
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F07Rik A G 2: 173,522,703 M14V probably benign Het
1700034J05Rik T A 6: 146,953,315 K76N possibly damaging Het
Agxt A G 1: 93,135,703 E109G probably damaging Het
Alcam T C 16: 52,288,936 T325A probably benign Het
Apol7c T C 15: 77,528,849 E67G probably damaging Het
Bco1 C A 8: 117,113,439 S232Y probably benign Het
Cacna1c A T 6: 118,675,923 V763D probably damaging Het
Ccdc15 T C 9: 37,304,332 D618G probably damaging Het
Col6a5 T C 9: 105,906,113 N1603S unknown Het
Cyp4v3 A G 8: 45,308,374 probably null Het
Eml5 A T 12: 98,844,087 V870E probably damaging Het
Epn2 A G 11: 61,519,671 V512A probably damaging Het
Fam71b G T 11: 46,406,552 V228L probably damaging Het
Farp2 A G 1: 93,576,463 R321G probably damaging Het
Gprasp1 T C X: 135,800,803 S582P probably damaging Het
Grik1 A T 16: 87,946,556 F594L probably damaging Het
Hivep1 A G 13: 42,156,449 K722E probably benign Het
Htr5b G A 1: 121,527,835 R119C probably damaging Het
Ifit2 T C 19: 34,574,337 S426P probably benign Het
Kif13a T C 13: 46,825,222 Y234C probably damaging Het
Mios T A 6: 8,222,598 F511I probably benign Het
Mtfmt T C 9: 65,439,567 W148R probably damaging Het
Myo1c C A 11: 75,661,574 T391N probably benign Het
Nlrp1a A T 11: 71,113,513 L710* probably null Het
Nlrp1b A G 11: 71,161,680 I971T probably damaging Het
Nup43 A G 10: 7,673,594 D171G probably damaging Het
Olfr1445 A G 19: 12,883,941 E20G probably benign Het
P2rx7 T C 5: 122,673,656 probably benign Het
Poli C T 18: 70,523,292 G155R probably damaging Het
Rad9b T C 5: 122,333,342 S220G possibly damaging Het
Rgn C T X: 20,550,461 S28L probably damaging Het
Tcp11l2 G A 10: 84,605,068 probably null Het
Tenm4 G A 7: 96,704,137 V379I possibly damaging Het
Thsd7a A T 6: 12,343,265 C1118S probably damaging Het
Tmem8 T A 17: 26,119,499 Y512N probably benign Het
Trpm7 A G 2: 126,825,744 Y776H probably damaging Het
Trpv4 T C 5: 114,636,357 N222S probably benign Het
Tut1 C T 19: 8,964,039 R397C probably damaging Het
Vmn1r72 T A 7: 11,669,745 T259S probably benign Het
Wdr17 A G 8: 54,696,388 S2P possibly damaging Het
Other mutations in Grhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Grhl2 APN 15 37336301 missense probably damaging 1.00
IGL01730:Grhl2 APN 15 37337774 missense probably benign 0.00
IGL02140:Grhl2 APN 15 37270586 splice site probably benign
IGL02307:Grhl2 APN 15 37288288 missense probably damaging 1.00
IGL02508:Grhl2 APN 15 37309765 splice site probably benign
clayton UTSW 15 37291676 splice site probably null
R0462:Grhl2 UTSW 15 37344675 missense probably benign 0.00
R1421:Grhl2 UTSW 15 37309716 missense probably damaging 1.00
R1548:Grhl2 UTSW 15 37336323 missense probably benign 0.32
R1912:Grhl2 UTSW 15 37358407 missense probably damaging 1.00
R1960:Grhl2 UTSW 15 37336314 missense probably damaging 1.00
R3110:Grhl2 UTSW 15 37336347 critical splice donor site probably null
R3112:Grhl2 UTSW 15 37336347 critical splice donor site probably null
R4261:Grhl2 UTSW 15 37360823 missense possibly damaging 0.64
R4830:Grhl2 UTSW 15 37335659 unclassified probably null
R4910:Grhl2 UTSW 15 37291676 splice site probably null
R4929:Grhl2 UTSW 15 37360802 missense probably benign
R4952:Grhl2 UTSW 15 37287249 missense probably benign 0.13
R5742:Grhl2 UTSW 15 37328372 missense probably damaging 1.00
R7142:Grhl2 UTSW 15 37279582 missense probably benign 0.05
R7208:Grhl2 UTSW 15 37335736 missense probably damaging 1.00
R7466:Grhl2 UTSW 15 37291616 missense probably damaging 1.00
R7519:Grhl2 UTSW 15 37336312 missense probably damaging 1.00
R7538:Grhl2 UTSW 15 37328359 missense probably damaging 1.00
Posted On2015-04-16