Incidental Mutation 'R1135:Trhr2'
ID |
94925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trhr2
|
Ensembl Gene |
ENSMUSG00000039079 |
Gene Name |
thyrotropin releasing hormone receptor 2 |
Synonyms |
TRH-R2 |
MMRRC Submission |
039208-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R1135 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
123083706-123087485 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123085372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 204
(L204P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044123]
[ENSMUST00000127664]
|
AlphaFold |
Q9ERT2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044123
AA Change: L204P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042575 Gene: ENSMUSG00000039079 AA Change: L204P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
184 |
1e-12 |
PFAM |
Pfam:7TM_GPCR_Srv
|
29 |
325 |
2e-7 |
PFAM |
Pfam:7TM_GPCR_Srx
|
30 |
165 |
4.8e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
33 |
323 |
5.6e-10 |
PFAM |
Pfam:7tm_1
|
39 |
308 |
5.4e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
SMART Domains |
Protein: ENSMUSP00000118564 Gene: ENSMUSG00000092329
Domain | Start | End | E-Value | Type |
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
G |
T |
4: 148,029,115 (GRCm39) |
V362L |
probably benign |
Het |
Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,090,468 (GRCm39) |
|
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
Msantd2 |
A |
G |
9: 37,434,008 (GRCm39) |
I83V |
probably damaging |
Het |
Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
Skint10 |
C |
T |
4: 112,568,660 (GRCm39) |
W352* |
probably null |
Het |
Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
C |
T |
4: 132,984,281 (GRCm39) |
G274D |
probably damaging |
Het |
Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
probably damaging |
Het |
|
Other mutations in Trhr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03070:Trhr2
|
APN |
8 |
123,085,342 (GRCm39) |
missense |
probably benign |
|
IGL03387:Trhr2
|
APN |
8 |
123,085,220 (GRCm39) |
intron |
probably benign |
|
IGL03408:Trhr2
|
APN |
8 |
123,085,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R0546:Trhr2
|
UTSW |
8 |
123,085,228 (GRCm39) |
critical splice donor site |
probably null |
|
R1377:Trhr2
|
UTSW |
8 |
123,087,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Trhr2
|
UTSW |
8 |
123,084,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R2055:Trhr2
|
UTSW |
8 |
123,085,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4030:Trhr2
|
UTSW |
8 |
123,087,438 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R4998:Trhr2
|
UTSW |
8 |
123,085,511 (GRCm39) |
missense |
probably benign |
0.04 |
R5074:Trhr2
|
UTSW |
8 |
123,084,110 (GRCm39) |
missense |
probably benign |
0.01 |
R6175:Trhr2
|
UTSW |
8 |
123,084,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R7048:Trhr2
|
UTSW |
8 |
123,085,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R7168:Trhr2
|
UTSW |
8 |
123,087,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7185:Trhr2
|
UTSW |
8 |
123,087,396 (GRCm39) |
missense |
probably benign |
0.26 |
R7284:Trhr2
|
UTSW |
8 |
123,087,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7314:Trhr2
|
UTSW |
8 |
123,085,489 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7644:Trhr2
|
UTSW |
8 |
123,084,061 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7891:Trhr2
|
UTSW |
8 |
123,084,083 (GRCm39) |
missense |
probably damaging |
0.99 |
R8715:Trhr2
|
UTSW |
8 |
123,085,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8840:Trhr2
|
UTSW |
8 |
123,085,621 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Trhr2
|
UTSW |
8 |
123,085,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAACCTGCTTCCTGGAGGACATTG -3'
(R):5'- CAGCTCAGCCATTATCGCCTAGAC -3'
Sequencing Primer
(F):5'- TTGAGCTCTTGGACCTAGAGCA -3'
(R):5'- TTAGGAGCCAACATGCCTTG -3'
|
Posted On |
2014-01-05 |