Incidental Mutation 'R4261:Grhl2'
| ID |
322671 |
| 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 |
041074-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
37233280-37363813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37361067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 617
(G617D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022895]
|
| AlphaFold |
Q8K5C0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022895
AA Change: G617D
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: G617D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
214 |
438 |
8.5e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161933
|
| Meta Mutation Damage Score |
0.0646 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (53/55) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
| Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
| Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
| Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
| Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
| Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
| Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
| Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
| Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
| Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
| Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
| Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
| Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
| Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TAAGGGACACACCTCCTGAAG -3'
(R):5'- TCAGGCTTCAGCTCCATAGG -3'
Sequencing Primer
(F):5'- CCTCCTGAAGGCTGGCC -3'
(R):5'- TTGAAGGAAGTCCATTACTGGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation