Incidental Mutation 'R5824:Reg3b'
ID |
450065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Reg3b
|
Ensembl Gene |
ENSMUSG00000071356 |
Gene Name |
regenerating islet-derived 3 beta |
Synonyms |
REG-III, PAP1, RegIII (beta), Pap |
MMRRC Submission |
043216-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R5824 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
78347868-78350449 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78349104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 77
(V77I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089667]
[ENSMUST00000096904]
[ENSMUST00000167492]
[ENSMUST00000203266]
[ENSMUST00000204873]
[ENSMUST00000205240]
|
AlphaFold |
P35230 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089667
|
SMART Domains |
Protein: ENSMUSP00000087096 Gene: ENSMUSG00000068341
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
172 |
6.99e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096904
AA Change: V77I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000094667 Gene: ENSMUSG00000071356 AA Change: V77I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
172 |
1.12e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167492
|
SMART Domains |
Protein: ENSMUSP00000132220 Gene: ENSMUSG00000068341
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
126 |
1.66e-1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203266
AA Change: V77I
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145528 Gene: ENSMUSG00000071356 AA Change: V77I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
143 |
5e-14 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204760
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204873
AA Change: V77I
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145280 Gene: ENSMUSG00000071356 AA Change: V77I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
140 |
1.6e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205240
|
SMART Domains |
Protein: ENSMUSP00000144715 Gene: ENSMUSG00000068341
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
CLECT
|
40 |
126 |
1.66e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. The mature protein also functions as an antimicrobial protein with antibacterial activity. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Nov 2014] PHENOTYPE: Male homozygous mice exhibit impaired glucose tolerance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
Cma1 |
T |
C |
14: 56,179,182 (GRCm39) |
K238E |
possibly damaging |
Het |
Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
probably benign |
Het |
|
Other mutations in Reg3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03143:Reg3b
|
APN |
6 |
78,349,183 (GRCm39) |
nonsense |
probably null |
|
R0017:Reg3b
|
UTSW |
6 |
78,349,844 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0017:Reg3b
|
UTSW |
6 |
78,349,844 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0413:Reg3b
|
UTSW |
6 |
78,348,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R1321:Reg3b
|
UTSW |
6 |
78,349,936 (GRCm39) |
splice site |
probably null |
|
R1794:Reg3b
|
UTSW |
6 |
78,349,197 (GRCm39) |
splice site |
probably null |
|
R1960:Reg3b
|
UTSW |
6 |
78,348,797 (GRCm39) |
missense |
probably damaging |
0.98 |
R2513:Reg3b
|
UTSW |
6 |
78,348,802 (GRCm39) |
missense |
probably benign |
0.00 |
R3877:Reg3b
|
UTSW |
6 |
78,348,216 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4033:Reg3b
|
UTSW |
6 |
78,350,192 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4874:Reg3b
|
UTSW |
6 |
78,349,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5118:Reg3b
|
UTSW |
6 |
78,349,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R5301:Reg3b
|
UTSW |
6 |
78,348,243 (GRCm39) |
missense |
probably damaging |
0.96 |
R5344:Reg3b
|
UTSW |
6 |
78,349,843 (GRCm39) |
missense |
probably benign |
0.02 |
R5408:Reg3b
|
UTSW |
6 |
78,350,215 (GRCm39) |
missense |
probably benign |
|
R6643:Reg3b
|
UTSW |
6 |
78,349,905 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9055:Reg3b
|
UTSW |
6 |
78,349,886 (GRCm39) |
missense |
possibly damaging |
0.57 |
Z1176:Reg3b
|
UTSW |
6 |
78,349,811 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTGATGCAGAAGTAAGTGC -3'
(R):5'- TTTCCAGGTTCACTCTGGGG -3'
Sequencing Primer
(F):5'- TACACAAGGAACACACGGAAATG -3'
(R):5'- GGGACGCATAGATAATGTATTCCCC -3'
|
Posted On |
2016-12-20 |