Incidental Mutation 'IGL02173:Crhr2'
| ID |
282993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crhr2
|
| Ensembl Gene |
ENSMUSG00000003476 |
| Gene Name |
corticotropin releasing hormone receptor 2 |
| Synonyms |
CRF 2 receptor, Crfr2, CRFR2beta, CRFR2alpha, CRF-R2, CRH-R2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55067034-55110001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55080165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 138
(F138S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003568]
[ENSMUST00000095898]
[ENSMUST00000114374]
[ENSMUST00000164012]
[ENSMUST00000213026]
[ENSMUST00000212633]
|
| AlphaFold |
Q60748 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003568
AA Change: F157S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: F157S
| 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: F137S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: F137S
| 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 |
probably damaging
Transcript: ENSMUST00000164012
AA Change: F158S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: F158S
| 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 |
noncoding transcript
Transcript: ENSMUST00000204117
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213026
AA Change: F138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212633
AA Change: F158S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Adarb1 |
A |
C |
10: 77,157,659 (GRCm39) |
F263V |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
| Other mutations in Crhr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0278:Crhr2
|
UTSW |
6 |
55,094,516 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1056:Crhr2
|
UTSW |
6 |
55,077,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation