Incidental Mutation 'R4405:Gucy2g'
ID |
327643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2g
|
Ensembl Gene |
ENSMUSG00000055523 |
Gene Name |
guanylate cyclase 2g |
Synonyms |
2410077I05Rik, GC-G |
MMRRC Submission |
041134-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55226269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 216
(F216I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
AlphaFold |
Q6TL19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069183
AA Change: F216I
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000068253 Gene: ENSMUSG00000055523 AA Change: F216I
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
65 |
416 |
5.2e-36 |
PFAM |
low complexity region
|
471 |
487 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
574 |
826 |
2e-26 |
PFAM |
Pfam:Pkinase_Tyr
|
577 |
826 |
6e-35 |
PFAM |
CYCc
|
865 |
1059 |
6.42e-96 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities and are protected against acute ischemia induced renal injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
C |
T |
8: 95,763,536 (GRCm39) |
A279V |
probably benign |
Het |
Aggf1 |
G |
A |
13: 95,508,102 (GRCm39) |
P88L |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,896,411 (GRCm39) |
T210A |
probably benign |
Het |
Cd8b1 |
C |
T |
6: 71,303,006 (GRCm39) |
S27L |
possibly damaging |
Het |
Cfap43 |
C |
T |
19: 47,728,236 (GRCm39) |
S1507N |
possibly damaging |
Het |
Col12a1 |
A |
T |
9: 79,547,247 (GRCm39) |
|
probably null |
Het |
Col19a1 |
G |
A |
1: 24,573,190 (GRCm39) |
T194M |
unknown |
Het |
Cpb1 |
T |
A |
3: 20,317,733 (GRCm39) |
T237S |
probably benign |
Het |
Cubn |
G |
A |
2: 13,470,841 (GRCm39) |
T517M |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,106,274 (GRCm39) |
N1769S |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,225,984 (GRCm39) |
I365T |
probably damaging |
Het |
E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
Etv6 |
A |
G |
6: 134,210,497 (GRCm39) |
E115G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Gapvd1 |
C |
T |
2: 34,618,747 (GRCm39) |
V209I |
probably damaging |
Het |
Gbp8 |
G |
A |
5: 105,198,928 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
Grb14 |
T |
C |
2: 64,783,966 (GRCm39) |
N54D |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,820,225 (GRCm39) |
L2849Q |
probably damaging |
Het |
Hsd17b4 |
G |
T |
18: 50,261,381 (GRCm39) |
|
probably benign |
Het |
Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
Iqcd |
A |
T |
5: 120,740,485 (GRCm39) |
E272V |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,111,548 (GRCm39) |
Y463* |
probably null |
Het |
Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
Klf3 |
A |
T |
5: 64,986,347 (GRCm39) |
E294V |
possibly damaging |
Het |
Lancl1 |
A |
T |
1: 67,060,015 (GRCm39) |
|
probably null |
Het |
Ldaf1 |
T |
G |
7: 119,714,714 (GRCm39) |
F68V |
probably damaging |
Het |
Lrig3 |
T |
C |
10: 125,846,877 (GRCm39) |
F882L |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,046,367 (GRCm39) |
N474S |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,922,444 (GRCm39) |
|
probably null |
Het |
Mast1 |
C |
A |
8: 85,647,520 (GRCm39) |
W572C |
probably damaging |
Het |
Mbd4 |
T |
A |
6: 115,826,076 (GRCm39) |
Q305L |
possibly damaging |
Het |
Mbl2 |
T |
A |
19: 30,216,916 (GRCm39) |
S243T |
probably benign |
Het |
Mcph1 |
C |
T |
8: 18,682,557 (GRCm39) |
P565S |
probably benign |
Het |
Mfsd1 |
G |
C |
3: 67,507,943 (GRCm39) |
V435L |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,360,881 (GRCm39) |
G1183D |
probably damaging |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Noa1 |
A |
T |
5: 77,454,219 (GRCm39) |
S474T |
probably benign |
Het |
Nrde2 |
A |
G |
12: 100,096,843 (GRCm39) |
Y986H |
probably benign |
Het |
Oca2 |
G |
T |
7: 56,064,182 (GRCm39) |
V726F |
possibly damaging |
Het |
Or2ag13 |
T |
A |
7: 106,472,580 (GRCm39) |
S291C |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,871,244 (GRCm39) |
M205L |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,975,370 (GRCm39) |
|
probably null |
Het |
Plekhn1 |
A |
T |
4: 156,309,730 (GRCm39) |
|
probably null |
Het |
Sec61a2 |
T |
C |
2: 5,887,670 (GRCm39) |
D104G |
probably benign |
Het |
Skic3 |
A |
T |
13: 76,303,784 (GRCm39) |
Y1234F |
probably damaging |
Het |
Slc25a36 |
T |
C |
9: 96,967,171 (GRCm39) |
T131A |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,857,700 (GRCm39) |
D263V |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,384,189 (GRCm39) |
I35V |
probably benign |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,331,013 (GRCm39) |
V64A |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r20 |
A |
G |
6: 57,409,042 (GRCm39) |
M123V |
probably benign |
Het |
Zwint |
T |
C |
10: 72,492,095 (GRCm39) |
L59P |
probably damaging |
Het |
|
Other mutations in Gucy2g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:Gucy2g
|
APN |
19 |
55,221,535 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01954:Gucy2g
|
APN |
19 |
55,187,123 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01969:Gucy2g
|
APN |
19 |
55,215,870 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02164:Gucy2g
|
APN |
19 |
55,226,455 (GRCm39) |
missense |
probably benign |
|
IGL02534:Gucy2g
|
APN |
19 |
55,229,500 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02667:Gucy2g
|
APN |
19 |
55,194,609 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02755:Gucy2g
|
APN |
19 |
55,198,786 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03187:Gucy2g
|
APN |
19 |
55,219,484 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03354:Gucy2g
|
APN |
19 |
55,221,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4366001:Gucy2g
|
UTSW |
19 |
55,226,214 (GRCm39) |
missense |
probably null |
0.51 |
R0040:Gucy2g
|
UTSW |
19 |
55,205,734 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0126:Gucy2g
|
UTSW |
19 |
55,229,598 (GRCm39) |
missense |
probably benign |
|
R0318:Gucy2g
|
UTSW |
19 |
55,226,230 (GRCm39) |
missense |
probably benign |
0.00 |
R0576:Gucy2g
|
UTSW |
19 |
55,187,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0604:Gucy2g
|
UTSW |
19 |
55,191,519 (GRCm39) |
missense |
probably benign |
0.00 |
R0962:Gucy2g
|
UTSW |
19 |
55,198,716 (GRCm39) |
nonsense |
probably null |
|
R1348:Gucy2g
|
UTSW |
19 |
55,211,338 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1458:Gucy2g
|
UTSW |
19 |
55,203,468 (GRCm39) |
splice site |
probably benign |
|
R1693:Gucy2g
|
UTSW |
19 |
55,211,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Gucy2g
|
UTSW |
19 |
55,187,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1804:Gucy2g
|
UTSW |
19 |
55,198,741 (GRCm39) |
missense |
probably benign |
0.34 |
R1830:Gucy2g
|
UTSW |
19 |
55,211,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1902:Gucy2g
|
UTSW |
19 |
55,198,669 (GRCm39) |
missense |
probably benign |
0.20 |
R1927:Gucy2g
|
UTSW |
19 |
55,226,191 (GRCm39) |
missense |
probably benign |
0.02 |
R1969:Gucy2g
|
UTSW |
19 |
55,221,485 (GRCm39) |
missense |
probably benign |
0.42 |
R1969:Gucy2g
|
UTSW |
19 |
55,211,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2071:Gucy2g
|
UTSW |
19 |
55,210,772 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2842:Gucy2g
|
UTSW |
19 |
55,229,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Gucy2g
|
UTSW |
19 |
55,198,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R4202:Gucy2g
|
UTSW |
19 |
55,218,201 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4407:Gucy2g
|
UTSW |
19 |
55,226,269 (GRCm39) |
missense |
probably benign |
0.08 |
R4614:Gucy2g
|
UTSW |
19 |
55,190,579 (GRCm39) |
nonsense |
probably null |
|
R4671:Gucy2g
|
UTSW |
19 |
55,226,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Gucy2g
|
UTSW |
19 |
55,194,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R4837:Gucy2g
|
UTSW |
19 |
55,214,485 (GRCm39) |
missense |
probably benign |
|
R4969:Gucy2g
|
UTSW |
19 |
55,214,445 (GRCm39) |
missense |
probably benign |
|
R5050:Gucy2g
|
UTSW |
19 |
55,229,367 (GRCm39) |
missense |
probably benign |
0.05 |
R5059:Gucy2g
|
UTSW |
19 |
55,214,503 (GRCm39) |
missense |
probably benign |
0.00 |
R5070:Gucy2g
|
UTSW |
19 |
55,218,219 (GRCm39) |
missense |
probably damaging |
0.98 |
R5288:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Gucy2g
|
UTSW |
19 |
55,203,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Gucy2g
|
UTSW |
19 |
55,187,133 (GRCm39) |
missense |
probably benign |
0.00 |
R5531:Gucy2g
|
UTSW |
19 |
55,229,572 (GRCm39) |
missense |
probably benign |
0.24 |
R5536:Gucy2g
|
UTSW |
19 |
55,226,359 (GRCm39) |
missense |
probably benign |
0.05 |
R5679:Gucy2g
|
UTSW |
19 |
55,219,511 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5715:Gucy2g
|
UTSW |
19 |
55,221,587 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5941:Gucy2g
|
UTSW |
19 |
55,203,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R6250:Gucy2g
|
UTSW |
19 |
55,205,856 (GRCm39) |
missense |
probably damaging |
0.99 |
R6288:Gucy2g
|
UTSW |
19 |
55,215,945 (GRCm39) |
missense |
probably benign |
0.01 |
R6378:Gucy2g
|
UTSW |
19 |
55,229,377 (GRCm39) |
missense |
probably benign |
0.00 |
R6605:Gucy2g
|
UTSW |
19 |
55,229,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R7020:Gucy2g
|
UTSW |
19 |
55,221,482 (GRCm39) |
missense |
probably damaging |
0.98 |
R7064:Gucy2g
|
UTSW |
19 |
55,198,764 (GRCm39) |
missense |
probably benign |
0.01 |
R7078:Gucy2g
|
UTSW |
19 |
55,229,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Gucy2g
|
UTSW |
19 |
55,194,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R7539:Gucy2g
|
UTSW |
19 |
55,191,586 (GRCm39) |
missense |
probably damaging |
0.99 |
R7561:Gucy2g
|
UTSW |
19 |
55,194,772 (GRCm39) |
missense |
probably benign |
0.38 |
R7583:Gucy2g
|
UTSW |
19 |
55,224,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R7804:Gucy2g
|
UTSW |
19 |
55,216,584 (GRCm39) |
missense |
probably benign |
0.02 |
R7880:Gucy2g
|
UTSW |
19 |
55,194,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R8442:Gucy2g
|
UTSW |
19 |
55,205,833 (GRCm39) |
missense |
probably benign |
0.00 |
R8559:Gucy2g
|
UTSW |
19 |
55,198,786 (GRCm39) |
missense |
probably benign |
0.10 |
R8970:Gucy2g
|
UTSW |
19 |
55,191,478 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8972:Gucy2g
|
UTSW |
19 |
55,226,406 (GRCm39) |
missense |
probably benign |
0.17 |
R9085:Gucy2g
|
UTSW |
19 |
55,221,597 (GRCm39) |
nonsense |
probably null |
|
R9390:Gucy2g
|
UTSW |
19 |
55,190,607 (GRCm39) |
missense |
probably null |
1.00 |
R9462:Gucy2g
|
UTSW |
19 |
55,221,469 (GRCm39) |
critical splice donor site |
probably null |
|
R9502:Gucy2g
|
UTSW |
19 |
55,198,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Gucy2g
|
UTSW |
19 |
55,194,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Gucy2g
|
UTSW |
19 |
55,194,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Gucy2g
|
UTSW |
19 |
55,219,537 (GRCm39) |
missense |
probably benign |
0.05 |
Z1177:Gucy2g
|
UTSW |
19 |
55,198,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCTTTGCAGGAGTTTGC -3'
(R):5'- TGACACCTGCGTGACACTTG -3'
Sequencing Primer
(F):5'- GCAGGAGTTTGCTTCTAGAACTTAC -3'
(R):5'- GTGACACTTGTGCCACCCAAG -3'
|
Posted On |
2015-07-07 |