Mutagenetix > Incidental Mutation

Incidental Mutation 'R1548:Grhl2'

172355

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

039587-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37233280-37363813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37336567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 488 (A488V)

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: A488V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: A488V

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

Predicted Effect

unknown
Transcript: ENSMUST00000159221
AA Change: A57V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159341

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161933

Meta Mutation Damage Score

0.0651

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (69/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Acad10	G	C	5: 121,764,104 (GRCm39)		probably benign	Het
Acad10	G	T	5: 121,764,103 (GRCm39)		probably benign	Het
Ang2	C	A	14: 51,432,990 (GRCm39)	E131*	probably null	Het
Ankfn1	T	C	11: 89,417,367 (GRCm39)	N82D	probably damaging	Het
Anks1b	T	C	10: 89,885,847 (GRCm39)	I181T	possibly damaging	Het
Bcl2l12	C	G	7: 44,642,242 (GRCm39)	G215R	probably damaging	Het
Bnc2	A	G	4: 84,194,194 (GRCm39)	Y1044H	probably damaging	Het
Cacna1s	T	C	1: 136,038,675 (GRCm39)	F1172S	probably damaging	Het
Cct8	A	G	16: 87,282,472 (GRCm39)	I482T	probably damaging	Het
Cfap74	C	T	4: 155,518,502 (GRCm39)	T580I	probably benign	Het
Cib1	A	T	7: 79,878,162 (GRCm39)	Y105*	probably null	Het
Cpa1	G	A	6: 30,642,334 (GRCm39)	G245D	probably damaging	Het
Csmd3	A	G	15: 47,845,371 (GRCm39)	V801A	possibly damaging	Het
Ddx10	T	C	9: 53,060,861 (GRCm39)		probably null	Het
Ddx4	T	C	13: 112,736,531 (GRCm39)	N613S	probably damaging	Het
Drd3	A	G	16: 43,641,704 (GRCm39)	D340G	probably benign	Het
E2f4	A	G	8: 106,031,320 (GRCm39)	*411W	probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Foxp1	A	T	6: 98,922,381 (GRCm39)	I450N	probably damaging	Het
Ftdc1	A	T	16: 58,436,202 (GRCm39)	D40E	probably benign	Het
Gpr19	A	G	6: 134,847,047 (GRCm39)	F175S	possibly damaging	Het
Gpr21	C	T	2: 37,408,084 (GRCm39)	T210M	probably damaging	Het
Hif3a	T	C	7: 16,778,328 (GRCm39)	T435A	probably benign	Het
Hoxb4	C	T	11: 96,209,725 (GRCm39)	R44*	probably null	Het
Ifi47	A	G	11: 48,986,698 (GRCm39)	D155G	probably damaging	Het
Igdcc4	T	C	9: 65,042,509 (GRCm39)	L142P	probably benign	Het
Ints6	G	A	14: 62,951,141 (GRCm39)	P296L	probably damaging	Het
Itga3	A	G	11: 94,937,745 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Krtap20-1	G	A	16: 88,812,277 (GRCm39)		probably benign	Het
Lgals12	A	T	19: 7,581,677 (GRCm39)	H50Q	probably benign	Het
Lrp12	A	G	15: 39,735,902 (GRCm39)	S696P	probably damaging	Het
Lrp6	G	A	6: 134,436,392 (GRCm39)	T1258I	possibly damaging	Het
Meis2	C	T	2: 115,889,183 (GRCm39)	D190N	probably damaging	Het
Mir100hg	T	C	9: 41,492,672 (GRCm39)	L116P	probably damaging	Het
Mon2	C	T	10: 122,871,912 (GRCm39)		probably benign	Het
Muc6	A	G	7: 141,238,368 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo15a	A	G	11: 60,379,064 (GRCm39)	H1394R	probably damaging	Het
Myo5a	A	T	9: 75,079,028 (GRCm39)	I929F	probably damaging	Het
Nek6	T	A	2: 38,458,907 (GRCm39)	Y141N	probably damaging	Het
Notch4	T	A	17: 34,787,396 (GRCm39)	C319S	probably damaging	Het
Nwd2	A	T	5: 63,957,525 (GRCm39)	D285V	probably benign	Het
Olfml1	T	C	7: 107,189,582 (GRCm39)	S216P	possibly damaging	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pfkfb2	G	T	1: 130,625,820 (GRCm39)	H453Q	probably benign	Het
Pigt	C	T	2: 164,343,439 (GRCm39)	T305I	probably benign	Het
Plxnb1	C	T	9: 108,929,968 (GRCm39)	L275F	possibly damaging	Het
Ppm1d	C	T	11: 85,230,431 (GRCm39)	R350C	probably damaging	Het
Prss1l	G	T	6: 41,372,945 (GRCm39)	L72F	probably damaging	Het
Rassf1	C	A	9: 107,429,045 (GRCm39)	P84T	probably benign	Het
Rgl3	G	T	9: 21,892,002 (GRCm39)	R361S	probably benign	Het
Rnf213	G	A	11: 119,333,533 (GRCm39)	R2914H	probably damaging	Het
Ryr2	A	T	13: 11,569,435 (GRCm39)	C4956*	probably null	Het
Scaper	C	T	9: 55,723,954 (GRCm39)	R668H	probably damaging	Het
Spata6	T	C	4: 111,636,203 (GRCm39)	F165L	probably benign	Het
Tcirg1	A	T	19: 3,946,845 (GRCm39)	W694R	probably benign	Het
Tmem245	A	T	4: 56,906,233 (GRCm39)	Y160*	probably null	Het
Tshr	T	C	12: 91,500,805 (GRCm39)	Y279H	probably damaging	Het
Ttf1	A	C	2: 28,955,150 (GRCm39)	K171N	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Xdh	A	G	17: 74,220,896 (GRCm39)	V611A	probably damaging	Het
Zfp142	G	T	1: 74,609,263 (GRCm39)	H1408N	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATAATCACGTCTAGGGTGCTGAG -3'
(R):5'- CGGCTTGACAGAAAACTATGATGCG -3'

Sequencing Primer
(F):5'- CGTCTAGGGTGCTGAGAAAGC -3'
(R):5'- CAGAAAACTATGATGCGCTTTCTCC -3'

Posted On

2014-04-13