Incidental Mutation 'R8047:Grhl2'
ID |
618833 |
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 |
067484-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8047 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
37233280-37363813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37336465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 454
(M454K)
|
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: M454K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022895 Gene: ENSMUSG00000022286 AA Change: M454K
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
214 |
438 |
8.5e-88 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159221
AA Change: M23K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
T |
6: 87,088,454 (GRCm39) |
V206F |
unknown |
Het |
Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
Mecom |
T |
A |
3: 30,292,404 (GRCm39) |
D35V |
|
Het |
Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
Patz1 |
C |
T |
11: 3,256,283 (GRCm39) |
P523L |
probably benign |
Het |
Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,694,672 (GRCm39) |
S262P |
probably benign |
Het |
Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
Vmn2r89 |
T |
A |
14: 51,692,549 (GRCm39) |
D117E |
probably benign |
Het |
Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
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 |
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 |
|
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'- TCCACGTTGAATGGATTCTCC -3'
(R):5'- CGAAGGAGAGTTGTAGTCTGC -3'
Sequencing Primer
(F):5'- GAATGGATTCTCCTAGGATCCCATG -3'
(R):5'- AGTCTGCTCTGTTGGCCG -3'
|
Posted On |
2020-01-23 |