Incidental Mutation 'R7820:Crhr2'
| ID |
601808 |
| 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 |
045874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R7820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55067034-55110001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55079764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 191
(I191S)
|
| 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: I191S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003568
Gene: ENSMUSG00000003476
AA Change: I191S
| 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 |
possibly damaging
Transcript: ENSMUST00000095898
AA Change: H135Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000093586
Gene: ENSMUSG00000003476
AA Change: H135Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
HormR
|
36 |
107 |
1.75e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114374
AA Change: I171S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110015
Gene: ENSMUSG00000003476
AA Change: I171S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000126673
Gene: ENSMUSG00000003476
AA Change: I192S
| 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 |
probably damaging
Transcript: ENSMUST00000212633
AA Change: I192S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213026
AA Change: I172S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (49/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
T |
A |
7: 50,249,371 (GRCm39) |
I135N |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,811,944 (GRCm39) |
N175I |
probably benign |
Het |
| Adam12 |
A |
G |
7: 133,599,917 (GRCm39) |
V99A |
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,311,956 (GRCm39) |
P730T |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,867,983 (GRCm39) |
S847P |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,256,573 (GRCm39) |
A989V |
probably benign |
Het |
| Cacnb2 |
T |
A |
2: 14,965,477 (GRCm39) |
N152K |
probably damaging |
Het |
| Cemip2 |
C |
T |
19: 21,784,825 (GRCm39) |
A436V |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,244,064 (GRCm39) |
Y1334N |
probably damaging |
Het |
| Cimap1a |
A |
C |
7: 140,429,176 (GRCm39) |
T128P |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,666,432 (GRCm39) |
D473E |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,869,063 (GRCm39) |
Q137R |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,433 (GRCm39) |
I432T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,784 (GRCm39) |
T2504A |
probably benign |
Het |
| Hmgxb4 |
G |
T |
8: 75,727,574 (GRCm39) |
E186* |
probably null |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,100 (GRCm39) |
V61A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,567,685 (GRCm39) |
G1679R |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,890,596 (GRCm39) |
S1086L |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,682,692 (GRCm39) |
E724G |
possibly damaging |
Het |
| Mfap5 |
C |
A |
6: 122,497,880 (GRCm39) |
D51E |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,511 (GRCm39) |
L245P |
probably damaging |
Het |
| Mtx1 |
G |
T |
3: 89,121,315 (GRCm39) |
H106Q |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ngp |
A |
G |
9: 110,249,932 (GRCm39) |
T77A |
probably benign |
Het |
| Oca2 |
A |
T |
7: 55,981,713 (GRCm39) |
I612F |
probably damaging |
Het |
| Or11a4 |
A |
T |
17: 37,536,786 (GRCm39) |
M257L |
probably benign |
Het |
| Or4c119 |
T |
A |
2: 88,986,592 (GRCm39) |
D309V |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,230,414 (GRCm39) |
V97D |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,837 (GRCm39) |
|
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
T |
7: 115,836,715 (GRCm39) |
F18I |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,115,598 (GRCm39) |
I753T |
possibly damaging |
Het |
| Pms2 |
T |
G |
5: 143,851,451 (GRCm39) |
S123A |
possibly damaging |
Het |
| Pou4f2 |
T |
A |
8: 79,163,131 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,670,875 (GRCm39) |
L885Q |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs11 |
T |
A |
17: 26,424,169 (GRCm39) |
|
probably null |
Het |
| Samd3 |
T |
A |
10: 26,109,416 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,591,235 (GRCm39) |
D1349G |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,249,593 (GRCm39) |
Q868L |
probably null |
Het |
| Speer4f1 |
T |
A |
5: 17,684,528 (GRCm39) |
S185R |
probably damaging |
Het |
| Spin2f |
A |
G |
X: 30,905,635 (GRCm39) |
K28R |
probably benign |
Het |
| Tas2r125 |
T |
G |
6: 132,886,841 (GRCm39) |
I76M |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,090 (GRCm39) |
I1507F |
probably damaging |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,715 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,652 (GRCm39) |
F12S |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfp764l1 |
A |
T |
7: 126,990,608 (GRCm39) |
W460R |
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 |
|
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 |
|
|
|
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'- ACCTGGATTTGTAAGGTGGACC -3'
(R):5'- TCCTTAGGCTCTGGTTCAGC -3'
Sequencing Primer
(F):5'- CAGGGCATGCAGTGATAGCTTTAG -3'
(R):5'- CAGGCAGTGTCGTTCCCAAC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation