Incidental Mutation 'IGL01730:Grhl2'
| ID |
105423 |
| 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)
|
| Stock # |
IGL01730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
37233280-37363813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37338018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 496
(V496A)
|
| 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: V496A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
AA Change: V496A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
214 |
438 |
8.5e-88 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159221
AA Change: V65A
|
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
| Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,861,841 (GRCm39) |
S645P |
probably benign |
Het |
| Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,042 (GRCm39) |
S117P |
probably damaging |
Het |
| E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
A |
G |
18: 84,982,299 (GRCm39) |
I250M |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
| Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
| Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
| Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
| Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
| Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
| Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
| Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
| Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
| Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,253,736 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
| Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
| Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,797,252 (GRCm39) |
F335I |
possibly damaging |
Het |
| Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
| Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
| Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
| Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
| Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation