Incidental Mutation 'PIT4366001:Gucy2g'
| ID |
554800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2g
|
| Ensembl Gene |
ENSMUSG00000055523 |
| Gene Name |
guanylate cyclase 2g |
| Synonyms |
2410077I05Rik, GC-G |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4366001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
55186531-55229668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55226214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 234
(E234V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069183]
|
| AlphaFold |
Q6TL19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069183
AA Change: E234V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068253
Gene: ENSMUSG00000055523
AA Change: E234V
| 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 |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.5%
- 20x: 73.8%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
A |
11: 119,901,786 (GRCm39) |
S870I |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,244,962 (GRCm39) |
V2275A |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,899,833 (GRCm39) |
K278R |
probably damaging |
Het |
| Adcy2 |
TA |
TAA |
13: 68,858,109 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
T |
19: 53,205,298 (GRCm39) |
P16L |
unknown |
Het |
| Akap9 |
T |
A |
5: 4,096,221 (GRCm39) |
D2365E |
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,796,783 (GRCm39) |
S300P |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,424,779 (GRCm39) |
H655L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,424,781 (GRCm39) |
I656F |
probably benign |
Het |
| Bmpr1b |
T |
A |
3: 141,586,224 (GRCm39) |
T13S |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,208,055 (GRCm39) |
F478L |
|
Het |
| Card10 |
G |
A |
15: 78,671,631 (GRCm39) |
S611L |
probably benign |
Het |
| Cep68 |
T |
C |
11: 20,190,007 (GRCm39) |
N335S |
probably benign |
Het |
| Chac1 |
T |
C |
2: 119,181,986 (GRCm39) |
W35R |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,809,498 (GRCm39) |
V511A |
probably benign |
Het |
| Cpne9 |
G |
T |
6: 113,271,707 (GRCm39) |
G356W |
probably damaging |
Het |
| Dnah10 |
C |
A |
5: 124,852,588 (GRCm39) |
T1939K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,573,438 (GRCm39) |
N239D |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,062,123 (GRCm39) |
K415R |
possibly damaging |
Het |
| Dtd2 |
C |
A |
12: 52,046,582 (GRCm39) |
D86Y |
probably damaging |
Het |
| Efcab9 |
A |
G |
11: 32,473,608 (GRCm39) |
F127S |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,606,189 (GRCm39) |
H375R |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,622 (GRCm39) |
M1295K |
probably damaging |
Het |
| Gbp7 |
T |
G |
3: 142,248,712 (GRCm39) |
I325R |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,227,677 (GRCm39) |
K1493E |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,470,718 (GRCm39) |
C2215* |
probably null |
Het |
| Ltn1 |
G |
A |
16: 87,177,728 (GRCm39) |
R1634* |
probably null |
Het |
| Lynx1 |
A |
T |
15: 74,623,258 (GRCm39) |
M58K |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,684 (GRCm39) |
V484A |
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,819,535 (GRCm39) |
V240M |
possibly damaging |
Het |
| Mars1 |
A |
G |
10: 127,135,267 (GRCm39) |
M608T |
possibly damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,826 (GRCm39) |
M156V |
probably benign |
Het |
| Mchr1 |
G |
T |
15: 81,121,417 (GRCm39) |
V56L |
probably benign |
Het |
| Mlxip |
C |
T |
5: 123,533,173 (GRCm39) |
P61S |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,539,383 (GRCm39) |
F96S |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,542 (GRCm39) |
T1557A |
unknown |
Het |
| Myt1 |
T |
C |
2: 181,467,731 (GRCm39) |
V1135A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,073,215 (GRCm39) |
S76T |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,208,149 (GRCm39) |
Y665C |
probably damaging |
Het |
| Oaz3 |
T |
G |
3: 94,340,901 (GRCm39) |
R215S |
unknown |
Het |
| Or10x1 |
T |
C |
1: 174,196,656 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5m10b |
T |
C |
2: 85,699,226 (GRCm39) |
C97R |
probably damaging |
Het |
| Or5m8 |
A |
T |
2: 85,822,385 (GRCm39) |
N75Y |
probably damaging |
Het |
| Or5w1b |
C |
T |
2: 87,475,534 (GRCm39) |
W311* |
probably null |
Het |
| Perm1 |
G |
T |
4: 156,303,192 (GRCm39) |
V579L |
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,404,788 (GRCm39) |
V140A |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,144,842 (GRCm39) |
S228T |
probably damaging |
Het |
| Plekhn1 |
T |
G |
4: 156,309,268 (GRCm39) |
T213P |
probably damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,303 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
A |
G |
5: 145,088,145 (GRCm39) |
V622A |
probably benign |
Het |
| Ptn |
T |
A |
6: 36,718,284 (GRCm39) |
H127L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,462,015 (GRCm39) |
M1193L |
probably benign |
Het |
| Ptpru |
G |
A |
4: 131,527,023 (GRCm39) |
P650S |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,783,390 (GRCm39) |
L613Q |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,582,446 (GRCm39) |
T1458A |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,810,462 (GRCm39) |
A470V |
probably benign |
Het |
| Sertad2 |
C |
A |
11: 20,598,116 (GRCm39) |
P104Q |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,814,414 (GRCm39) |
M324L |
unknown |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,156 (GRCm39) |
N668S |
probably benign |
Het |
| Snx30 |
C |
A |
4: 59,894,653 (GRCm39) |
D410E |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,069,319 (GRCm39) |
S489* |
probably null |
Het |
| Taok3 |
T |
A |
5: 117,366,050 (GRCm39) |
M367K |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,874,850 (GRCm39) |
N254D |
possibly damaging |
Het |
| Tgtp1 |
T |
G |
11: 48,877,867 (GRCm39) |
L279F |
possibly damaging |
Het |
| Tmpo |
A |
G |
10: 90,999,172 (GRCm39) |
F205S |
probably damaging |
Het |
| Tmprss5 |
A |
T |
9: 49,023,517 (GRCm39) |
I218L |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,641,224 (GRCm39) |
E116G |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,205 (GRCm39) |
N402K |
possibly 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 |
|
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 |
|
R4405:Gucy2g
|
UTSW |
19 |
55,226,269 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- CAGCACAACTCTATAAGATCTGTG -3'
(R):5'- CCAAGCAGGAAATCAGTGCG -3'
Sequencing Primer
(F):5'- GTGATTTCACATCACATGCata -3'
(R):5'- CAGGAAATCAGTGCGGTGCTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation