Incidental Mutation 'R5742:Grhl2'
ID |
445633 |
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 |
043352-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
37233280-37363813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37328616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 414
(K414R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022895]
[ENSMUST00000161405]
|
AlphaFold |
Q8K5C0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022895
AA Change: K414R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022895 Gene: ENSMUSG00000022286 AA Change: K414R
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
214 |
438 |
8.5e-88 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159341
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161405
AA Change: K414R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125410 Gene: ENSMUSG00000022286 AA Change: K414R
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
209 |
434 |
2.1e-79 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161933
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
probably null |
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 |
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'- TGTCAGTTGTCCTTACAGGTCC -3'
(R):5'- GCAGGACTTGAATGGAAAGCTTC -3'
Sequencing Primer
(F):5'- CTCCTGGGGAGTCCACTATATG -3'
(R):5'- CTGCTTCCATAGGATAGCCAAATG -3'
|
Posted On |
2016-11-21 |