Incidental Mutation 'IGL03070:Trhr2'
| ID |
417486 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trhr2
|
| Ensembl Gene |
ENSMUSG00000039079 |
| Gene Name |
thyrotropin releasing hormone receptor 2 |
| Synonyms |
TRH-R2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123083706-123087485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123085342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 214
(Q214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044123]
[ENSMUST00000127664]
|
| AlphaFold |
Q9ERT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044123
AA Change: Q214L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042575
Gene: ENSMUSG00000039079
AA Change: Q214L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
| Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
Het |
|
| Other mutations in Trhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1135:Trhr2
|
UTSW |
8 |
123,085,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation