Incidental Mutation 'R1056:Crhr2'
ID |
94359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crhr2
|
Ensembl Gene |
ENSMUSG00000003476 |
Gene Name |
corticotropin releasing hormone receptor 2 |
Synonyms |
CRF 2 receptor, Crfr2, CRFR2beta, CRFR2alpha, CRF-R2, CRH-R2 |
MMRRC Submission |
039146-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R1056 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
55067034-55110001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55077720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 214
(V214E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003568]
[ENSMUST00000095898]
[ENSMUST00000114374]
[ENSMUST00000164012]
[ENSMUST00000212633]
[ENSMUST00000213026]
|
AlphaFold |
Q60748 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003568
AA Change: V214E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000003568 Gene: ENSMUSG00000003476 AA Change: V214E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
HormR
|
56 |
127 |
3.55e-28 |
SMART |
Pfam:7tm_2
|
132 |
374 |
8.4e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095898
|
SMART Domains |
Protein: ENSMUSP00000093586 Gene: ENSMUSG00000003476
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
HormR
|
36 |
107 |
1.75e-27 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114374
AA Change: V194E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110015 Gene: ENSMUSG00000003476 AA Change: V194E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
HormR
|
36 |
107 |
3.55e-28 |
SMART |
Pfam:7tm_2
|
112 |
354 |
9.7e-80 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164012
AA Change: V215E
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126673 Gene: ENSMUSG00000003476 AA Change: V215E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
HormR
|
56 |
127 |
3.55e-28 |
SMART |
Pfam:7tm_2
|
132 |
374 |
1e-79 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169777
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212633
AA Change: V215E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213026
AA Change: V195E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204117
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.7%
|
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 belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011] PHENOTYPE: Homozygous inactivation of this gene may result in hypersensitivity to stress, increased anxiety-like behavior, abnormal homeostatic responses to challenges of increased dietary fat and cold, and cardiovascular abnormalities, including hypertension and decreased cardiac contractility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,924,295 (GRCm39) |
Y1649C |
probably damaging |
Het |
Abcc10 |
A |
C |
17: 46,614,880 (GRCm39) |
C1459W |
possibly damaging |
Het |
Amfr |
A |
T |
8: 94,712,097 (GRCm39) |
F278I |
probably benign |
Het |
Anks1b |
G |
T |
10: 90,757,291 (GRCm39) |
|
probably null |
Het |
Bak1 |
A |
G |
17: 27,240,247 (GRCm39) |
S147P |
possibly damaging |
Het |
Bltp1 |
C |
A |
3: 37,037,602 (GRCm39) |
H2469N |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,098,829 (GRCm39) |
M1152K |
probably benign |
Het |
C7 |
T |
C |
15: 5,075,260 (GRCm39) |
N144S |
possibly damaging |
Het |
Casd1 |
T |
C |
6: 4,641,967 (GRCm39) |
V748A |
probably benign |
Het |
Ccdc168 |
C |
T |
1: 44,100,087 (GRCm39) |
G337D |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,916,375 (GRCm39) |
S859P |
probably benign |
Het |
Ccne2 |
T |
C |
4: 11,192,707 (GRCm39) |
S2P |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,051 (GRCm39) |
I541N |
probably benign |
Het |
Cgnl1 |
T |
A |
9: 71,633,177 (GRCm39) |
N58I |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,822,402 (GRCm39) |
S832P |
possibly damaging |
Het |
Chl1 |
A |
T |
6: 103,652,038 (GRCm39) |
Y318F |
possibly damaging |
Het |
Coq2 |
G |
T |
5: 100,805,813 (GRCm39) |
N274K |
probably benign |
Het |
Dgkg |
G |
C |
16: 22,419,291 (GRCm39) |
P70A |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,147,731 (GRCm39) |
I966M |
probably benign |
Het |
Eif5b |
C |
G |
1: 38,061,248 (GRCm39) |
R380G |
unknown |
Het |
Fat4 |
T |
A |
3: 38,945,541 (GRCm39) |
I1478N |
probably damaging |
Het |
Impact |
A |
T |
18: 13,109,581 (GRCm39) |
I92L |
probably benign |
Het |
Ly6c2 |
A |
G |
15: 74,983,445 (GRCm39) |
|
probably null |
Het |
Lypd6b |
G |
A |
2: 49,837,468 (GRCm39) |
V147I |
possibly damaging |
Het |
Mdga2 |
T |
C |
12: 66,769,894 (GRCm39) |
D192G |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,586,344 (GRCm39) |
|
probably null |
Het |
Myo9a |
C |
T |
9: 59,739,484 (GRCm39) |
T732I |
possibly damaging |
Het |
Myrf |
C |
T |
19: 10,200,850 (GRCm39) |
M274I |
probably benign |
Het |
Nfx1 |
G |
A |
4: 41,003,057 (GRCm39) |
R686Q |
probably damaging |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Oog4 |
T |
C |
4: 143,164,581 (GRCm39) |
T245A |
possibly damaging |
Het |
Or1a1b |
C |
T |
11: 74,097,608 (GRCm39) |
V145I |
probably benign |
Het |
Or52e3 |
A |
T |
7: 102,869,625 (GRCm39) |
E233D |
probably benign |
Het |
Pclo |
A |
T |
5: 14,590,069 (GRCm39) |
K790* |
probably null |
Het |
Pcm1 |
A |
G |
8: 41,774,937 (GRCm39) |
E1668G |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,455,360 (GRCm39) |
N4040K |
probably damaging |
Het |
Podnl1 |
T |
A |
8: 84,855,905 (GRCm39) |
S222T |
probably benign |
Het |
Ppil4 |
A |
G |
10: 7,675,396 (GRCm39) |
T182A |
possibly damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,544 (GRCm39) |
K649E |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,786,663 (GRCm39) |
H530Q |
probably benign |
Het |
Rbbp4 |
A |
T |
4: 129,211,442 (GRCm39) |
M404K |
probably damaging |
Het |
Rilpl1 |
A |
T |
5: 124,631,900 (GRCm39) |
F149I |
probably damaging |
Het |
Sema6c |
T |
A |
3: 95,078,527 (GRCm39) |
S543T |
probably benign |
Het |
Sh3rf3 |
G |
T |
10: 58,842,904 (GRCm39) |
W290L |
probably damaging |
Het |
Slc2a12 |
T |
G |
10: 22,541,350 (GRCm39) |
S402A |
probably benign |
Het |
Tas2r131 |
T |
A |
6: 132,934,030 (GRCm39) |
I260F |
possibly damaging |
Het |
Tasp1 |
A |
G |
2: 139,850,684 (GRCm39) |
I113T |
possibly damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,614 (GRCm39) |
R741* |
probably null |
Het |
Ube2o |
G |
T |
11: 116,437,290 (GRCm39) |
D244E |
probably damaging |
Het |
Vmn1r206 |
A |
T |
13: 22,804,784 (GRCm39) |
M141K |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp747 |
A |
G |
7: 126,973,760 (GRCm39) |
S137P |
probably benign |
Het |
Zfp951 |
A |
T |
5: 104,963,151 (GRCm39) |
H138Q |
possibly damaging |
Het |
|
Other mutations in Crhr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02173:Crhr2
|
APN |
6 |
55,080,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R0278:Crhr2
|
UTSW |
6 |
55,094,516 (GRCm39) |
missense |
probably benign |
0.16 |
R1701:Crhr2
|
UTSW |
6 |
55,076,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Crhr2
|
UTSW |
6 |
55,069,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R2697:Crhr2
|
UTSW |
6 |
55,079,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4020:Crhr2
|
UTSW |
6 |
55,077,765 (GRCm39) |
splice site |
probably benign |
|
R4030:Crhr2
|
UTSW |
6 |
55,094,662 (GRCm39) |
missense |
probably benign |
0.34 |
R4527:Crhr2
|
UTSW |
6 |
55,109,838 (GRCm39) |
utr 5 prime |
probably benign |
|
R4698:Crhr2
|
UTSW |
6 |
55,079,852 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4737:Crhr2
|
UTSW |
6 |
55,068,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Crhr2
|
UTSW |
6 |
55,077,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R5718:Crhr2
|
UTSW |
6 |
55,069,085 (GRCm39) |
nonsense |
probably null |
|
R5719:Crhr2
|
UTSW |
6 |
55,080,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Crhr2
|
UTSW |
6 |
55,077,667 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6046:Crhr2
|
UTSW |
6 |
55,068,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Crhr2
|
UTSW |
6 |
55,070,028 (GRCm39) |
missense |
probably benign |
0.20 |
R6826:Crhr2
|
UTSW |
6 |
55,094,725 (GRCm39) |
intron |
probably benign |
|
R7011:Crhr2
|
UTSW |
6 |
55,076,195 (GRCm39) |
critical splice donor site |
probably null |
|
R7131:Crhr2
|
UTSW |
6 |
55,069,112 (GRCm39) |
missense |
|
|
R7820:Crhr2
|
UTSW |
6 |
55,079,764 (GRCm39) |
missense |
probably damaging |
0.97 |
R8340:Crhr2
|
UTSW |
6 |
55,079,831 (GRCm39) |
missense |
probably damaging |
0.98 |
R8378:Crhr2
|
UTSW |
6 |
55,069,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R8693:Crhr2
|
UTSW |
6 |
55,079,779 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9434:Crhr2
|
UTSW |
6 |
55,069,512 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Crhr2
|
UTSW |
6 |
55,080,201 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGCTGTACTTGAGCGTTGGTC -3'
(R):5'- TGTTTGGAACCCTGCCCTTGAGTC -3'
Sequencing Primer
(F):5'- TCCTTGGCCTCAAGATGAAG -3'
(R):5'- GAGTCTCAAAGTTCAAGGTTCCG -3'
|
Posted On |
2014-01-05 |