Incidental Mutation 'R5332:Crhbp'
| ID |
423317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crhbp
|
| Ensembl Gene |
ENSMUSG00000021680 |
| Gene Name |
corticotropin releasing hormone binding protein |
| Synonyms |
CRH-BP |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5332 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
95567884-95581339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95572963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 261
(P261H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045583]
[ENSMUST00000221025]
|
| AlphaFold |
Q60571 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045583
AA Change: P261H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042578
Gene: ENSMUSG00000021680
AA Change: P261H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRF-BP
|
1 |
307 |
1.1e-179 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221025
AA Change: P254H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display behavior indicative of increased anxiety. Male mice also show reduced food intake resulting in reduced growth between ages 7 and 15 weeks. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
| Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
probably benign |
Het |
|
| Other mutations in Crhbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01591:Crhbp
|
APN |
13 |
95,580,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03058:Crhbp
|
APN |
13 |
95,580,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Crhbp
|
UTSW |
13 |
95,580,403 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0521:Crhbp
|
UTSW |
13 |
95,580,403 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1120:Crhbp
|
UTSW |
13 |
95,578,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4417:Crhbp
|
UTSW |
13 |
95,580,385 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4925:Crhbp
|
UTSW |
13 |
95,580,318 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4999:Crhbp
|
UTSW |
13 |
95,578,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Crhbp
|
UTSW |
13 |
95,578,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Crhbp
|
UTSW |
13 |
95,578,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5861:Crhbp
|
UTSW |
13 |
95,580,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Crhbp
|
UTSW |
13 |
95,580,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5911:Crhbp
|
UTSW |
13 |
95,568,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6235:Crhbp
|
UTSW |
13 |
95,580,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Crhbp
|
UTSW |
13 |
95,580,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Crhbp
|
UTSW |
13 |
95,568,515 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8479:Crhbp
|
UTSW |
13 |
95,578,632 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9269:Crhbp
|
UTSW |
13 |
95,573,024 (GRCm39) |
missense |
probably benign |
|
|
R9676:Crhbp
|
UTSW |
13 |
95,578,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Crhbp
|
UTSW |
13 |
95,568,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAATGCTTAGGTAATAGG -3'
(R):5'- TCTGAAGGCTGACAAGAGTG -3'
Sequencing Primer
(F):5'- AGGTTCTGATACTACACGTAGGTTC -3'
(R):5'- CTGACAAGAGTGTTCACTGCTCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation