Incidental Mutation 'R1646:Grhl1'
ID 173901
Institutional Source Beutler Lab
Gene Symbol Grhl1
Ensembl Gene ENSMUSG00000020656
Gene Name grainyhead like transcription factor 1
Synonyms p70 MGR, Tcfcp2l2, p61 MGR, LBP-32
MMRRC Submission 039682-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1646 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 24622282-24667390 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24661860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 513 (D513G)
Ref Sequence ENSEMBL: ENSMUSP00000082689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020985] [ENSMUST00000085553]
AlphaFold Q921D9
Predicted Effect possibly damaging
Transcript: ENSMUST00000020985
AA Change: D431G

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: D431G

DomainStartEndE-ValueType
Pfam:CP2 133 362 1.8e-87 PFAM
low complexity region 406 421 N/A INTRINSIC
low complexity region 488 500 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000085553
AA Change: D513G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: D513G

DomainStartEndE-ValueType
Pfam:CP2 228 442 1.9e-82 PFAM
low complexity region 488 503 N/A INTRINSIC
low complexity region 570 582 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223442
Meta Mutation Damage Score 0.0957 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 96% (69/72)
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 can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T G 4: 63,302,129 (GRCm39) I581L probably benign Het
Cacnb4 A G 2: 52,364,912 (GRCm39) I117T possibly damaging Het
Capn1 A T 19: 6,047,760 (GRCm39) F434L probably benign Het
Cbs T C 17: 31,832,169 (GRCm39) T547A probably benign Het
Col6a5 A T 9: 105,739,948 (GRCm39) L2557* probably null Het
Dach1 A G 14: 98,406,550 (GRCm39) S66P unknown Het
Ddx31 T C 2: 28,782,532 (GRCm39) V625A probably benign Het
Dmxl1 T G 18: 50,095,328 (GRCm39) V2969G probably damaging Het
Eapp T A 12: 54,732,745 (GRCm39) K122* probably null Het
Elapor1 A T 3: 108,370,306 (GRCm39) S751T probably damaging Het
Epb41l5 G T 1: 119,477,752 (GRCm39) probably benign Het
Fat1 T C 8: 45,471,079 (GRCm39) S1628P probably damaging Het
Fgfr2 T A 7: 129,844,374 (GRCm39) E37V probably damaging Het
Fgfr4 A T 13: 55,313,777 (GRCm39) N529Y probably damaging Het
Fsip2 A T 2: 82,808,861 (GRCm39) T1727S probably benign Het
Gak A T 5: 108,750,720 (GRCm39) S397T probably damaging Het
Gm6040 T A 8: 21,407,113 (GRCm39) I36F possibly damaging Het
Gstt1 T A 10: 75,619,940 (GRCm39) D219V possibly damaging Het
Hcfc2 T G 10: 82,536,861 (GRCm39) V91G probably damaging Het
Hells A T 19: 38,956,227 (GRCm39) I808L probably benign Het
Icmt T A 4: 152,384,172 (GRCm39) V110E possibly damaging Het
Ilrun A G 17: 28,012,934 (GRCm39) S88P probably damaging Het
Iqca1 C T 1: 90,067,760 (GRCm39) V164M probably damaging Het
Klri1 G A 6: 129,680,299 (GRCm39) P119S probably benign Het
Krt71 C A 15: 101,647,199 (GRCm39) probably null Het
Lpin1 A G 12: 16,623,659 (GRCm39) probably null Het
Macir A T 1: 97,573,531 (GRCm39) I178N probably damaging Het
Metap2 T C 10: 93,706,059 (GRCm39) H241R probably damaging Het
Myh15 A G 16: 49,015,931 (GRCm39) Y1869C probably damaging Het
Myo1h G A 5: 114,455,693 (GRCm39) G59E possibly damaging Het
Ncam2 T G 16: 81,262,594 (GRCm39) probably benign Het
Npat T C 9: 53,466,434 (GRCm39) V241A probably benign Het
Npbwr1 C A 1: 5,987,473 (GRCm39) V14L probably benign Het
Nup37 T A 10: 88,014,096 (GRCm39) V323E possibly damaging Het
Or11g27 A T 14: 50,771,040 (GRCm39) Q57L probably benign Het
Or5m9b A G 2: 85,905,960 (GRCm39) N292S probably damaging Het
Or5p59 C T 7: 107,702,798 (GRCm39) T94I probably benign Het
Or7a35 C A 10: 78,853,340 (GRCm39) Y61* probably null Het
Pdlim4 A T 11: 53,947,080 (GRCm39) L132Q possibly damaging Het
Ptcd3 T C 6: 71,875,379 (GRCm39) D201G probably benign Het
Ptk7 A T 17: 46,897,223 (GRCm39) F370I probably benign Het
Pus7l T C 15: 94,431,517 (GRCm39) N371D probably benign Het
Pzp G A 6: 128,480,518 (GRCm39) A589V probably benign Het
Rasef T A 4: 73,652,786 (GRCm39) R572W probably damaging Het
Reep5 T C 18: 34,482,712 (GRCm39) T166A probably benign Het
Rhov A G 2: 119,101,501 (GRCm39) V35A probably damaging Het
Ripk4 C T 16: 97,545,097 (GRCm39) G517R probably damaging Het
Rnasel A G 1: 153,630,800 (GRCm39) T439A probably damaging Het
Slamf9 A G 1: 172,304,907 (GRCm39) T174A probably benign Het
Slc12a9 A G 5: 137,321,411 (GRCm39) L414P probably damaging Het
Slf1 G A 13: 77,214,767 (GRCm39) R640* probably null Het
Slfn8 G T 11: 82,907,712 (GRCm39) P277Q probably damaging Het
Stpg2 T A 3: 139,125,463 (GRCm39) probably benign Het
Tm9sf3 A C 19: 41,211,618 (GRCm39) N408K possibly damaging Het
Trio A G 15: 27,758,433 (GRCm39) V2049A possibly damaging Het
Ttn A T 2: 76,645,077 (GRCm39) I11180N probably damaging Het
Ush2a T C 1: 188,148,018 (GRCm39) C982R probably damaging Het
Usp36 C T 11: 118,164,392 (GRCm39) V207M probably damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vasp G A 7: 18,994,903 (GRCm39) probably benign Het
Vmn2r115 T C 17: 23,578,513 (GRCm39) F662S probably damaging Het
Vmn2r54 A T 7: 12,366,434 (GRCm39) C167S probably damaging Het
Vmn2r71 C A 7: 85,270,476 (GRCm39) N547K probably damaging Het
Wasf2 A G 4: 132,903,902 (GRCm39) I37V probably benign Het
Wwc2 T C 8: 48,295,937 (GRCm39) E1111G unknown Het
Zfp317 A G 9: 19,558,608 (GRCm39) Y274C probably damaging Het
Zhx3 T C 2: 160,623,195 (GRCm39) Y324C probably damaging Het
Zzef1 T C 11: 72,754,862 (GRCm39) probably null Het
Other mutations in Grhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Grhl1 APN 12 24,662,169 (GRCm39) missense probably damaging 1.00
IGL01104:Grhl1 APN 12 24,634,453 (GRCm39) missense probably damaging 1.00
IGL01335:Grhl1 APN 12 24,658,057 (GRCm39) missense probably damaging 1.00
IGL01660:Grhl1 APN 12 24,658,577 (GRCm39) splice site probably null
IGL01725:Grhl1 APN 12 24,659,747 (GRCm39) splice site probably benign
IGL02869:Grhl1 APN 12 24,631,490 (GRCm39) missense probably damaging 1.00
bandit UTSW 12 24,628,025 (GRCm39) missense probably benign 0.31
cembalo UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
gamba UTSW 12 24,662,244 (GRCm39) splice site probably benign
Spinnet UTSW 12 24,634,945 (GRCm39) critical splice donor site probably null
R0048:Grhl1 UTSW 12 24,662,150 (GRCm39) splice site probably benign
R0373:Grhl1 UTSW 12 24,631,514 (GRCm39) missense probably benign 0.00
R0432:Grhl1 UTSW 12 24,632,918 (GRCm39) missense probably benign 0.29
R0442:Grhl1 UTSW 12 24,662,169 (GRCm39) missense probably damaging 1.00
R1531:Grhl1 UTSW 12 24,632,962 (GRCm39) critical splice donor site probably null
R1874:Grhl1 UTSW 12 24,636,155 (GRCm39) splice site probably benign
R1892:Grhl1 UTSW 12 24,634,909 (GRCm39) missense probably damaging 1.00
R1908:Grhl1 UTSW 12 24,658,555 (GRCm39) missense probably damaging 0.99
R2051:Grhl1 UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
R2199:Grhl1 UTSW 12 24,662,169 (GRCm39) missense probably damaging 1.00
R2233:Grhl1 UTSW 12 24,658,510 (GRCm39) missense probably damaging 0.98
R3803:Grhl1 UTSW 12 24,634,918 (GRCm39) missense probably damaging 1.00
R3864:Grhl1 UTSW 12 24,665,929 (GRCm39) makesense probably null
R4227:Grhl1 UTSW 12 24,661,850 (GRCm39) missense probably benign
R4682:Grhl1 UTSW 12 24,658,432 (GRCm39) missense probably benign 0.00
R4709:Grhl1 UTSW 12 24,636,132 (GRCm39) missense possibly damaging 0.57
R5096:Grhl1 UTSW 12 24,653,049 (GRCm39) missense probably damaging 1.00
R5149:Grhl1 UTSW 12 24,662,178 (GRCm39) small deletion probably benign
R5580:Grhl1 UTSW 12 24,659,739 (GRCm39) missense probably benign 0.00
R6035:Grhl1 UTSW 12 24,658,449 (GRCm39) missense probably benign 0.00
R6035:Grhl1 UTSW 12 24,658,449 (GRCm39) missense probably benign 0.00
R6110:Grhl1 UTSW 12 24,630,746 (GRCm39) splice site probably null
R6351:Grhl1 UTSW 12 24,634,857 (GRCm39) missense probably damaging 0.98
R7018:Grhl1 UTSW 12 24,625,996 (GRCm39) missense possibly damaging 0.47
R8211:Grhl1 UTSW 12 24,636,151 (GRCm39) critical splice donor site probably null
R8723:Grhl1 UTSW 12 24,662,244 (GRCm39) splice site probably benign
R8898:Grhl1 UTSW 12 24,634,945 (GRCm39) critical splice donor site probably null
R9575:Grhl1 UTSW 12 24,636,082 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCTTCATGTTCTCCTACTGGGTG -3'
(R):5'- TTCCTTTCGGACATAGAGCAGCAC -3'

Sequencing Primer
(F):5'- TAGGCTGCCACTCCTGAG -3'
(R):5'- TGAGCCTTAGGATCTAACTGC -3'
Posted On 2014-04-24