Incidental Mutation 'R6790:Crh'
| ID |
532538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crh
|
| Ensembl Gene |
ENSMUSG00000049796 |
| Gene Name |
corticotropin releasing hormone |
| Synonyms |
LOC383938, corticotropin-releasing factor, corticotropin releasing factor, CRF |
| MMRRC Submission |
044903-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R6790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
19747565-19749560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 19748459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 61
(E61A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
[ENSMUST00000061294]
|
| AlphaFold |
Q8CIT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029139
|
| SMART Domains |
Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
26 |
81 |
3.69e-8 |
SMART |
|
BBOX
|
119 |
161 |
3.58e-6 |
SMART |
|
Blast:BBC
|
168 |
294 |
2e-33 |
BLAST |
|
PDB:4M3L|D
|
215 |
272 |
2e-12 |
PDB |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061294
AA Change: E61A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061185
Gene: ENSMUSG00000049796
AA Change: E61A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
CRF
|
146 |
185 |
1.55e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.7384 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the corticotropin-releasing factor family and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a neuropeptide hormone that binds to the corticotropin releasing hormone receptors (CRHR1 and CRHR2) to stimulate the release of adrenocorticotropic hormone from the pituitary gland in response to stress. The encoded protein may also regulate angiogenesis and inflammation. Homozygous knockout mice for this gene exhibit reduced corticosterone levels while the offspring of these mice die perinatally. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have abnormal adrenal gland morphology, decreased corticosterone levels and abnormal corticosteroid responses to stress. Homozygous litters born from homozygous females display neonatal lethality, impaired lung maturation and delayedcornified and granular layer development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
| Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
| Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
| Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
| Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
| Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
| Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
| Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
| Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
| Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
probably benign |
Het |
|
| Other mutations in Crh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02698:Crh
|
APN |
3 |
19,748,354 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0047:Crh
|
UTSW |
3 |
19,748,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0697:Crh
|
UTSW |
3 |
19,748,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0835:Crh
|
UTSW |
3 |
19,748,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1201:Crh
|
UTSW |
3 |
19,748,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2034:Crh
|
UTSW |
3 |
19,748,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Crh
|
UTSW |
3 |
19,748,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Crh
|
UTSW |
3 |
19,748,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Crh
|
UTSW |
3 |
19,748,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Crh
|
UTSW |
3 |
19,748,153 (GRCm39) |
nonsense |
probably null |
|
|
R5191:Crh
|
UTSW |
3 |
19,748,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Crh
|
UTSW |
3 |
19,748,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Crh
|
UTSW |
3 |
19,748,501 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6865:Crh
|
UTSW |
3 |
19,748,304 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7259:Crh
|
UTSW |
3 |
19,748,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7758:Crh
|
UTSW |
3 |
19,748,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7981:Crh
|
UTSW |
3 |
19,748,216 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8247:Crh
|
UTSW |
3 |
19,748,291 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCAAGACTTCCCGCAG -3'
(R):5'- AACCTCGGTGCTTCAGAGAG -3'
Sequencing Primer
(F):5'- CAGAGAGATGGGCGGCTC -3'
(R):5'- TTCAGAGAGCGCCCCTAACATG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation