Mutagenetix > Incidental Mutations

Incidental Mutation 'R7466:Grhl2'

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437		probably benign	Het
Amer3	A	G	1: 34,587,993	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261		probably null	Het
Art4	G	T	6: 136,854,850	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706		probably null	Het
Cd180	A	T	13: 102,704,995	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983		probably null	Het
Cfap77	G	T	2: 28,955,613	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484		probably null	Het
Ephb2	C	T	4: 136,659,065	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983	Y22C	probably benign	Het
F5	C	T	1: 164,193,328	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779	G208*	probably null	Het
H2-T10	T	C	17: 36,120,849	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420		probably benign	Het
Ippk	T	C	13: 49,432,467		probably null	Het
Klc4	T	A	17: 46,639,910	I258F	probably benign	Het
Manba	C	A	3: 135,542,393	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922	C182*	probably null	Het
Pam	A	T	1: 97,842,247	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484		probably null	Het
Rfc1	A	T	5: 65,275,426	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484		probably null	Het
Zfp503	T	C	14: 21,986,011	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531	V459A	probably damaging	Het

Other mutations in Grhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02375:Grhl2	APN	15	37291577	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	splice site	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
R7519:Grhl2	UTSW	15	37336312	missense	probably damaging	1.00
R7538:Grhl2	UTSW	15	37328359	missense	probably damaging	1.00
R7637:Grhl2	UTSW	15	37328330	missense	probably damaging	0.96
R8027:Grhl2	UTSW	15	37279483	missense	probably benign
R8047:Grhl2	UTSW	15	37336221	missense	probably benign	0.00
R8555:Grhl2	UTSW	15	37233263	intron	probably benign
R8818:Grhl2	UTSW	15	37270668	missense	probably damaging	1.00
R9117:Grhl2	UTSW	15	37270668	missense	probably damaging	1.00
R9339:Grhl2	UTSW	15	37344660	missense	probably benign	0.00
Z1177:Grhl2	UTSW	15	37333287	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