Incidental Mutation 'R6132:Crebrf'
ID |
487207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crebrf
|
Ensembl Gene |
ENSMUSG00000048249 |
Gene Name |
CREB3 regulatory factor |
Synonyms |
A930001N09Rik |
MMRRC Submission |
044279-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.539)
|
Stock # |
R6132 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26934624-26995609 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26982377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 588
(P588S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062519]
[ENSMUST00000142539]
[ENSMUST00000151681]
|
AlphaFold |
Q8CDG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062519
AA Change: P588S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000059102 Gene: ENSMUSG00000048249 AA Change: P588S
Domain | Start | End | E-Value | Type |
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
low complexity region
|
356 |
407 |
N/A |
INTRINSIC |
Blast:BRLZ
|
520 |
584 |
3e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142539
AA Change: P580S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000114274 Gene: ENSMUSG00000048249 AA Change: P580S
Domain | Start | End | E-Value | Type |
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
low complexity region
|
348 |
399 |
N/A |
INTRINSIC |
Blast:BRLZ
|
512 |
576 |
3e-35 |
BLAST |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151681
|
SMART Domains |
Protein: ENSMUSP00000119186 Gene: ENSMUSG00000048249
Domain | Start | End | E-Value | Type |
Blast:BRLZ
|
100 |
137 |
2e-18 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176845
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (49/51) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired social recognition, increased vertical and horizontal activity, abnormal maternal nurturing, decreased prolactin and corticosterone serum levels, and abnormal mammary gland growth during lactation. [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 |
Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
Cyp2c68 |
A |
G |
19: 39,691,858 (GRCm39) |
V355A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,917,173 (GRCm39) |
L129P |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
Golph3l |
C |
G |
3: 95,499,145 (GRCm39) |
P96A |
probably benign |
Het |
Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
Grin3b |
T |
C |
10: 79,812,274 (GRCm39) |
L479P |
probably damaging |
Het |
Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
Slf2 |
T |
A |
19: 44,949,300 (GRCm39) |
N870K |
possibly damaging |
Het |
Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
Het |
|
Other mutations in Crebrf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Crebrf
|
APN |
17 |
26,962,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03106:Crebrf
|
APN |
17 |
26,990,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Crebrf
|
UTSW |
17 |
26,982,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0046:Crebrf
|
UTSW |
17 |
26,982,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0254:Crebrf
|
UTSW |
17 |
26,958,568 (GRCm39) |
missense |
probably benign |
0.01 |
R0448:Crebrf
|
UTSW |
17 |
26,962,076 (GRCm39) |
missense |
probably benign |
0.42 |
R1268:Crebrf
|
UTSW |
17 |
26,958,570 (GRCm39) |
frame shift |
probably null |
|
R1857:Crebrf
|
UTSW |
17 |
26,961,937 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Crebrf
|
UTSW |
17 |
26,961,937 (GRCm39) |
missense |
probably benign |
0.00 |
R1937:Crebrf
|
UTSW |
17 |
26,961,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R2005:Crebrf
|
UTSW |
17 |
26,961,857 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2006:Crebrf
|
UTSW |
17 |
26,961,857 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2031:Crebrf
|
UTSW |
17 |
26,961,895 (GRCm39) |
missense |
probably damaging |
0.97 |
R2323:Crebrf
|
UTSW |
17 |
26,982,581 (GRCm39) |
unclassified |
probably benign |
|
R2352:Crebrf
|
UTSW |
17 |
26,961,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Crebrf
|
UTSW |
17 |
26,961,938 (GRCm39) |
missense |
probably benign |
|
R4511:Crebrf
|
UTSW |
17 |
26,961,938 (GRCm39) |
missense |
probably benign |
|
R4585:Crebrf
|
UTSW |
17 |
26,981,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Crebrf
|
UTSW |
17 |
26,962,035 (GRCm39) |
missense |
probably benign |
0.23 |
R4896:Crebrf
|
UTSW |
17 |
26,961,394 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5227:Crebrf
|
UTSW |
17 |
26,978,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Crebrf
|
UTSW |
17 |
26,978,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R5443:Crebrf
|
UTSW |
17 |
26,961,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5540:Crebrf
|
UTSW |
17 |
26,961,071 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6017:Crebrf
|
UTSW |
17 |
26,976,823 (GRCm39) |
missense |
probably benign |
0.04 |
R7464:Crebrf
|
UTSW |
17 |
26,982,461 (GRCm39) |
missense |
unknown |
|
R7956:Crebrf
|
UTSW |
17 |
26,961,631 (GRCm39) |
missense |
probably benign |
0.21 |
R8378:Crebrf
|
UTSW |
17 |
26,981,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Crebrf
|
UTSW |
17 |
26,961,520 (GRCm39) |
missense |
probably benign |
0.14 |
R8916:Crebrf
|
UTSW |
17 |
26,958,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R9355:Crebrf
|
UTSW |
17 |
26,962,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R9687:Crebrf
|
UTSW |
17 |
26,982,601 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCATTTCCCCAGATTCTG -3'
(R):5'- CTGAGGAAGATAAATCCCTACCGAG -3'
Sequencing Primer
(F):5'- GAAATTCATCCCAAGGCTTTGTGC -3'
(R):5'- CGAGAGGTGGGGGCAGATG -3'
|
Posted On |
2017-10-10 |