Incidental Mutation 'R5633:Gnb2'
| ID |
439974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnb2
|
| Ensembl Gene |
ENSMUSG00000029713 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta 2 |
| Synonyms |
|
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137526389-137531772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137527454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 213
(I213V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031726]
[ENSMUST00000031727]
[ENSMUST00000111020]
[ENSMUST00000111023]
[ENSMUST00000111027]
[ENSMUST00000111038]
[ENSMUST00000140139]
[ENSMUST00000132525]
[ENSMUST00000143495]
[ENSMUST00000150063]
[ENSMUST00000168746]
[ENSMUST00000170293]
|
| AlphaFold |
P62880 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031726
AA Change: I171V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713
AA Change: I171V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
WD40
|
215 |
254 |
2.1e-7 |
SMART |
|
WD40
|
257 |
298 |
1.72e-3 |
SMART |
|
WD40
|
301 |
340 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031727
|
| SMART Domains |
Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
379 |
N/A |
INTRINSIC |
|
coiled coil region
|
424 |
450 |
N/A |
INTRINSIC |
|
GYF
|
477 |
532 |
1.6e-25 |
SMART |
|
low complexity region
|
534 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
613 |
N/A |
INTRINSIC |
|
coiled coil region
|
671 |
735 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
877 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
893 |
N/A |
INTRINSIC |
|
coiled coil region
|
957 |
984 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111020
AA Change: I127V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106649
Gene: ENSMUSG00000029713
AA Change: I127V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111023
AA Change: I127V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106652
Gene: ENSMUSG00000029713
AA Change: I127V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111027
AA Change: I213V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713
AA Change: I213V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
WD40
|
86 |
125 |
1.05e-7 |
SMART |
|
WD40
|
128 |
167 |
3.96e-3 |
SMART |
|
WD40
|
174 |
212 |
1.57e-6 |
SMART |
|
WD40
|
215 |
254 |
2.98e-7 |
SMART |
|
WD40
|
257 |
296 |
2.1e-7 |
SMART |
|
WD40
|
299 |
340 |
1.72e-3 |
SMART |
|
WD40
|
343 |
382 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111038
|
| SMART Domains |
Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EPO_TPO
|
30 |
191 |
2.8e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140139
AA Change: I171V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121942
Gene: ENSMUSG00000029713
AA Change: I171V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132525
AA Change: I171V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000119725
Gene: ENSMUSG00000029713
AA Change: I171V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143495
AA Change: I71V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
25 |
3.8e-3 |
PFAM |
|
WD40
|
32 |
70 |
1.57e-6 |
SMART |
|
WD40
|
73 |
112 |
2.98e-7 |
SMART |
|
WD40
|
115 |
154 |
2.1e-7 |
SMART |
|
WD40
|
157 |
198 |
1.72e-3 |
SMART |
|
WD40
|
201 |
240 |
2.04e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150063
AA Change: I171V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713
AA Change: I171V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
3.96e-3 |
SMART |
|
WD40
|
132 |
170 |
1.57e-6 |
SMART |
|
WD40
|
173 |
212 |
2.98e-7 |
SMART |
|
WD40
|
215 |
254 |
2.1e-7 |
SMART |
|
WD40
|
257 |
298 |
1.72e-3 |
SMART |
|
WD40
|
301 |
340 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168746
AA Change: I71V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132908
Gene: ENSMUSG00000029713
AA Change: I71V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
1 |
25 |
3.8e-3 |
PFAM |
|
WD40
|
32 |
70 |
1.57e-6 |
SMART |
|
WD40
|
73 |
112 |
2.98e-7 |
SMART |
|
WD40
|
115 |
154 |
2.1e-7 |
SMART |
|
WD40
|
157 |
198 |
1.72e-3 |
SMART |
|
WD40
|
201 |
240 |
2.04e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170293
AA Change: I127V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128038
Gene: ENSMUSG00000029713
AA Change: I127V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
39 |
2.65e-4 |
SMART |
|
WD40
|
42 |
81 |
3.96e-3 |
SMART |
|
WD40
|
88 |
126 |
1.57e-6 |
SMART |
|
WD40
|
129 |
168 |
2.98e-7 |
SMART |
|
WD40
|
171 |
210 |
2.1e-7 |
SMART |
|
WD40
|
213 |
254 |
1.72e-3 |
SMART |
|
WD40
|
257 |
296 |
2.04e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185075
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
Het |
|
| Other mutations in Gnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Gnb2
|
APN |
5 |
137,528,968 (GRCm39) |
intron |
probably benign |
|
|
ruffian
|
UTSW |
5 |
137,528,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2336:Gnb2
|
UTSW |
5 |
137,527,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Gnb2
|
UTSW |
5 |
137,528,515 (GRCm39) |
start codon destroyed |
probably null |
0.30 |
|
R5023:Gnb2
|
UTSW |
5 |
137,528,202 (GRCm39) |
splice site |
probably null |
|
|
R5395:Gnb2
|
UTSW |
5 |
137,526,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Gnb2
|
UTSW |
5 |
137,526,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Gnb2
|
UTSW |
5 |
137,526,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7107:Gnb2
|
UTSW |
5 |
137,528,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8406:Gnb2
|
UTSW |
5 |
137,526,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAAGATTTGGGCCAGAG -3'
(R):5'- GCACACTTCTGAGCACCTAG -3'
Sequencing Primer
(F):5'- TTACAGCCACGGCATTGATG -3'
(R):5'- ACACTTCTGAGCACCTAGTCTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation