Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Grhl2'

296475

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grhl2

Ensembl Gene

ENSMUSG00000022286

Gene Name

grainyhead like transcription factor 2

Synonyms

BOM, grainyheadlike, 0610015A08Rik, clft3, Tcfcp2l3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

37233280-37363813 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 37310009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022895] [ENSMUST00000161405]

AlphaFold

Q8K5C0

Predicted Effect

probably benign
Transcript: ENSMUST00000022895

SMART Domains

Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286

Domain	Start	End	E-Value	Type
Pfam:CP2	214	438	8.5e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161405

SMART Domains

Protein: ENSMUSP00000125410
Gene: ENSMUSG00000022286

Domain	Start	End	E-Value	Type
Pfam:CP2	209	434	2.1e-79	PFAM

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly damaging	Het

Other mutations in Grhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8047:Grhl2	UTSW	15	37,336,465 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16