Incidental Mutation 'R3427:Crhr1'
ID |
267930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crhr1
|
Ensembl Gene |
ENSMUSG00000018634 |
Gene Name |
corticotropin releasing hormone receptor 1 |
Synonyms |
CRF 1 receptor, CRFR1, CRF1R, CRF-R1alpha |
MMRRC Submission |
040645-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3427 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
104023681-104066349 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 104064419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093925]
[ENSMUST00000093925]
|
AlphaFold |
P35347 |
Predicted Effect |
probably null
Transcript: ENSMUST00000093925
|
SMART Domains |
Protein: ENSMUSP00000091455 Gene: ENSMUSG00000018634
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
HormR
|
40 |
111 |
5.59e-26 |
SMART |
Pfam:7tm_2
|
116 |
359 |
7.2e-81 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000093925
|
SMART Domains |
Protein: ENSMUSP00000091455 Gene: ENSMUSG00000018634
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
HormR
|
40 |
111 |
5.59e-26 |
SMART |
Pfam:7tm_2
|
116 |
359 |
7.2e-81 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a G-protein coupled receptor that binds corticotropin-releasing factor (CRH) and urocortin (UCN) with high affinity. The encoded protein upregulates adenylate cyclase activity and intracellular cAMP levels. This protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response, and obesity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal zona fasciculata, low adrenocorticotropic hormone production, and reduced anxiety-related behaviors. Progeny of homozygote matings die from lung dysplasia within 48 hours of birth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
A |
9: 107,806,969 (GRCm39) |
F431I |
probably damaging |
Het |
Asb18 |
C |
T |
1: 89,896,315 (GRCm39) |
G242S |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,163,411 (GRCm39) |
I582V |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
Bsph1 |
T |
C |
7: 13,206,168 (GRCm39) |
Y78H |
probably damaging |
Het |
Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,213,653 (GRCm39) |
V795E |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ctbp2 |
A |
T |
7: 132,593,321 (GRCm39) |
H793Q |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,529,190 (GRCm39) |
M805V |
probably benign |
Het |
Dctn3 |
T |
C |
4: 41,719,858 (GRCm39) |
K83E |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,485,480 (GRCm39) |
N156D |
unknown |
Het |
Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
Exosc2 |
T |
C |
2: 31,569,900 (GRCm39) |
L237P |
probably damaging |
Het |
Fiz1 |
A |
G |
7: 5,015,708 (GRCm39) |
F94S |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,124,842 (GRCm39) |
|
noncoding transcript |
Het |
Igsf9b |
T |
C |
9: 27,245,873 (GRCm39) |
F1280S |
probably damaging |
Het |
Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
Kcnh1 |
T |
C |
1: 191,924,238 (GRCm39) |
F151L |
probably benign |
Het |
Nudc |
C |
T |
4: 133,261,568 (GRCm39) |
G239S |
probably benign |
Het |
Or6c215 |
T |
C |
10: 129,637,720 (GRCm39) |
K225E |
possibly damaging |
Het |
Plekhb1 |
T |
C |
7: 100,294,857 (GRCm39) |
Y172C |
probably damaging |
Het |
Plscr4 |
T |
C |
9: 92,370,797 (GRCm39) |
S255P |
probably damaging |
Het |
Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
Rps6ka4 |
C |
A |
19: 6,815,123 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rttn |
G |
A |
18: 89,113,775 (GRCm39) |
|
probably null |
Het |
Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
Strip1 |
T |
C |
3: 107,524,138 (GRCm39) |
H593R |
possibly damaging |
Het |
Sycp1 |
A |
T |
3: 102,783,666 (GRCm39) |
C603S |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,614,249 (GRCm39) |
R5Q |
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
|
Other mutations in Crhr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02156:Crhr1
|
APN |
11 |
104,054,709 (GRCm39) |
missense |
probably benign |
|
R0764:Crhr1
|
UTSW |
11 |
104,050,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R1386:Crhr1
|
UTSW |
11 |
104,065,220 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1812:Crhr1
|
UTSW |
11 |
104,059,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Crhr1
|
UTSW |
11 |
104,023,898 (GRCm39) |
start codon destroyed |
probably benign |
|
R1903:Crhr1
|
UTSW |
11 |
104,060,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Crhr1
|
UTSW |
11 |
104,044,377 (GRCm39) |
missense |
probably benign |
0.00 |
R5285:Crhr1
|
UTSW |
11 |
104,061,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5537:Crhr1
|
UTSW |
11 |
104,054,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6243:Crhr1
|
UTSW |
11 |
104,064,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R6273:Crhr1
|
UTSW |
11 |
104,054,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7372:Crhr1
|
UTSW |
11 |
104,054,719 (GRCm39) |
splice site |
probably null |
|
R7664:Crhr1
|
UTSW |
11 |
104,059,968 (GRCm39) |
missense |
probably benign |
0.01 |
R8978:Crhr1
|
UTSW |
11 |
104,064,480 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9071:Crhr1
|
UTSW |
11 |
104,064,133 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Crhr1
|
UTSW |
11 |
104,060,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTATTCAGTACAGGTACCTGG -3'
(R):5'- ATGAGTGCAAATCTGGCCCC -3'
Sequencing Primer
(F):5'- ATGCTTCAGAGATTCCAGTGGCTC -3'
(R):5'- CCCCCAGGCTGGAGAAG -3'
|
Posted On |
2015-02-18 |