Incidental Mutation 'R8466:Gucy2d'
ID |
656831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2d
|
Ensembl Gene |
ENSMUSG00000074003 |
Gene Name |
guanylate cyclase 2d |
Synonyms |
guanylyl cyclase D |
MMRRC Submission |
067910-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R8466 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 98099237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 351
(P351Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
AlphaFold |
A0A0U1RPR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098274
AA Change: P351Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095875 Gene: ENSMUSG00000074003 AA Change: P351Q
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
65 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
88 |
421 |
6.7e-49 |
PFAM |
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
562 |
811 |
1.4e-33 |
PFAM |
Pfam:Pkinase
|
575 |
811 |
1.3e-28 |
PFAM |
CYCc
|
850 |
1045 |
8.67e-102 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206435
AA Change: P352Q
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozugous for a null allele lack olfactory response to uroguanylin and guanylin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
G |
10: 100,437,873 (GRCm39) |
E94G |
probably benign |
Het |
Abhd16a |
G |
T |
17: 35,313,236 (GRCm39) |
R118L |
probably damaging |
Het |
Adamts1 |
A |
G |
16: 85,599,400 (GRCm39) |
S67P |
probably benign |
Het |
Adar |
C |
T |
3: 89,658,466 (GRCm39) |
P656L |
probably damaging |
Het |
Afg3l1 |
G |
A |
8: 124,216,648 (GRCm39) |
D296N |
probably benign |
Het |
Akap9 |
G |
A |
5: 4,088,659 (GRCm39) |
R2096Q |
probably damaging |
Het |
Aldh1a2 |
T |
A |
9: 71,160,205 (GRCm39) |
I77K |
probably benign |
Het |
Cacnb4 |
A |
C |
2: 52,354,679 (GRCm39) |
V233G |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,206,987 (GRCm39) |
Q286L |
probably damaging |
Het |
Camta1 |
T |
A |
4: 151,170,577 (GRCm39) |
K1055* |
probably null |
Het |
Ccdc96 |
C |
A |
5: 36,642,252 (GRCm39) |
|
probably benign |
Het |
Cep70 |
T |
C |
9: 99,160,073 (GRCm39) |
|
probably null |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Ddx24 |
G |
T |
12: 103,376,160 (GRCm39) |
L779I |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,952,336 (GRCm39) |
E378G |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,438,621 (GRCm39) |
N172D |
probably damaging |
Het |
Gprin3 |
C |
A |
6: 59,331,466 (GRCm39) |
Q280H |
possibly damaging |
Het |
Gprin3 |
T |
A |
6: 59,331,467 (GRCm39) |
Q280L |
probably benign |
Het |
H2-M11 |
G |
A |
17: 36,858,985 (GRCm39) |
G175D |
probably benign |
Het |
Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,120,948 (GRCm39) |
E2695K |
|
Het |
Lsg1 |
T |
C |
16: 30,400,919 (GRCm39) |
Q130R |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,554,444 (GRCm39) |
T3950A |
unknown |
Het |
Myo1c |
G |
A |
11: 75,549,213 (GRCm39) |
R109H |
probably damaging |
Het |
Nol4 |
C |
A |
18: 23,171,638 (GRCm39) |
A8S |
probably benign |
Het |
Or1e1f |
A |
T |
11: 73,855,913 (GRCm39) |
T160S |
probably damaging |
Het |
Or1p1b |
A |
G |
11: 74,131,016 (GRCm39) |
I209V |
probably benign |
Het |
Pabpn1l |
C |
T |
8: 123,347,625 (GRCm39) |
V216M |
possibly damaging |
Het |
Papln |
A |
C |
12: 83,825,255 (GRCm39) |
|
probably null |
Het |
Pcsk5 |
A |
T |
19: 17,549,864 (GRCm39) |
C709* |
probably null |
Het |
Pglyrp3 |
T |
A |
3: 91,921,941 (GRCm39) |
V3E |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,130,963 (GRCm39) |
N831D |
probably damaging |
Het |
Prp2rt |
T |
C |
13: 97,235,492 (GRCm39) |
D85G |
probably damaging |
Het |
Prss22 |
T |
C |
17: 24,215,802 (GRCm39) |
D40G |
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,316,057 (GRCm39) |
F208S |
probably benign |
Het |
Sipa1l2 |
A |
T |
8: 126,218,985 (GRCm39) |
N117K |
probably damaging |
Het |
Srsf9 |
G |
C |
5: 115,465,492 (GRCm39) |
R42P |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,785,924 (GRCm39) |
I451N |
probably damaging |
Het |
Tecrl |
A |
T |
5: 83,428,367 (GRCm39) |
Y301* |
probably null |
Het |
Togaram1 |
T |
C |
12: 65,033,216 (GRCm39) |
S1065P |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,350,630 (GRCm39) |
L39Q |
probably null |
Het |
Utp20 |
A |
T |
10: 88,654,365 (GRCm39) |
S241T |
probably damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,783,997 (GRCm39) |
F159S |
probably damaging |
Het |
Wdr76 |
A |
C |
2: 121,341,038 (GRCm39) |
N28H |
probably damaging |
Het |
Zfhx2 |
T |
A |
14: 55,310,353 (GRCm39) |
Y731F |
possibly damaging |
Het |
Zfhx4 |
A |
T |
3: 5,307,762 (GRCm39) |
E329D |
probably damaging |
Het |
Zswim8 |
A |
T |
14: 20,760,744 (GRCm39) |
Q83L |
possibly damaging |
Het |
|
Other mutations in Gucy2d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01145:Gucy2d
|
APN |
7 |
98,099,170 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02093:Gucy2d
|
APN |
7 |
98,092,755 (GRCm39) |
nonsense |
probably null |
|
IGL02839:Gucy2d
|
APN |
7 |
98,093,196 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02904:Gucy2d
|
APN |
7 |
98,111,396 (GRCm39) |
splice site |
probably null |
|
IGL03253:Gucy2d
|
APN |
7 |
98,100,871 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03349:Gucy2d
|
APN |
7 |
98,099,048 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0025:Gucy2d
|
UTSW |
7 |
98,116,959 (GRCm39) |
missense |
probably benign |
|
R0362:Gucy2d
|
UTSW |
7 |
98,092,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R0379:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
R0381:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
R0507:Gucy2d
|
UTSW |
7 |
98,108,209 (GRCm39) |
splice site |
probably null |
|
R0890:Gucy2d
|
UTSW |
7 |
98,122,472 (GRCm39) |
missense |
probably benign |
0.43 |
R1720:Gucy2d
|
UTSW |
7 |
98,126,437 (GRCm39) |
missense |
probably benign |
0.28 |
R1721:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R1867:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R1868:Gucy2d
|
UTSW |
7 |
98,103,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R1884:Gucy2d
|
UTSW |
7 |
98,100,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1913:Gucy2d
|
UTSW |
7 |
98,093,054 (GRCm39) |
missense |
probably benign |
0.14 |
R2351:Gucy2d
|
UTSW |
7 |
98,113,226 (GRCm39) |
missense |
probably benign |
0.02 |
R4683:Gucy2d
|
UTSW |
7 |
98,102,650 (GRCm39) |
missense |
probably benign |
0.33 |
R5079:Gucy2d
|
UTSW |
7 |
98,107,475 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5285:Gucy2d
|
UTSW |
7 |
98,107,474 (GRCm39) |
splice site |
probably null |
|
R5433:Gucy2d
|
UTSW |
7 |
98,098,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R5859:Gucy2d
|
UTSW |
7 |
98,101,090 (GRCm39) |
missense |
probably benign |
|
R6148:Gucy2d
|
UTSW |
7 |
98,093,030 (GRCm39) |
missense |
probably benign |
|
R6468:Gucy2d
|
UTSW |
7 |
98,099,168 (GRCm39) |
missense |
probably benign |
0.00 |
R6909:Gucy2d
|
UTSW |
7 |
98,116,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R7400:Gucy2d
|
UTSW |
7 |
98,092,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7483:Gucy2d
|
UTSW |
7 |
98,098,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Gucy2d
|
UTSW |
7 |
98,100,876 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7903:Gucy2d
|
UTSW |
7 |
98,108,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R8277:Gucy2d
|
UTSW |
7 |
98,092,682 (GRCm39) |
missense |
probably benign |
|
R8412:Gucy2d
|
UTSW |
7 |
98,093,046 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8520:Gucy2d
|
UTSW |
7 |
98,121,513 (GRCm39) |
missense |
probably null |
1.00 |
R8715:Gucy2d
|
UTSW |
7 |
98,093,319 (GRCm39) |
missense |
probably benign |
0.05 |
R8765:Gucy2d
|
UTSW |
7 |
98,108,347 (GRCm39) |
missense |
probably benign |
0.13 |
R8824:Gucy2d
|
UTSW |
7 |
98,092,676 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9165:Gucy2d
|
UTSW |
7 |
98,103,271 (GRCm39) |
missense |
probably benign |
0.00 |
R9252:Gucy2d
|
UTSW |
7 |
98,116,979 (GRCm39) |
critical splice donor site |
probably null |
|
R9502:Gucy2d
|
UTSW |
7 |
98,107,942 (GRCm39) |
missense |
probably benign |
|
R9660:Gucy2d
|
UTSW |
7 |
98,099,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9699:Gucy2d
|
UTSW |
7 |
98,108,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Gucy2d
|
UTSW |
7 |
98,123,868 (GRCm39) |
missense |
probably benign |
0.24 |
R9736:Gucy2d
|
UTSW |
7 |
98,092,683 (GRCm39) |
nonsense |
probably null |
|
R9773:Gucy2d
|
UTSW |
7 |
98,099,048 (GRCm39) |
missense |
possibly damaging |
0.75 |
RF030:Gucy2d
|
UTSW |
7 |
98,108,241 (GRCm39) |
small insertion |
probably benign |
|
RF055:Gucy2d
|
UTSW |
7 |
98,108,248 (GRCm39) |
small insertion |
probably benign |
|
RF064:Gucy2d
|
UTSW |
7 |
98,108,250 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTCTGTGCATGCACTCG -3'
(R):5'- AAGCCCATATCTAGGGCTAGG -3'
Sequencing Primer
(F):5'- GACGGAAGGCTGGTCTTC -3'
(R):5'- CATATCTAGGGCTAGGCAGGC -3'
|
Posted On |
2021-01-18 |