Incidental Mutation 'R9699:Gucy2d'
ID |
729477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gucy2d
|
Ensembl Gene |
ENSMUSG00000074003 |
Gene Name |
guanylate cyclase 2d |
Synonyms |
guanylyl cyclase D |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R9699 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98108290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 741
(I741N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
AlphaFold |
A0A0U1RPR8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098274
AA Change: I740N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095875 Gene: ENSMUSG00000074003 AA Change: I740N
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: I741N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
G |
T |
1: 57,416,927 (GRCm39) |
R33L |
probably benign |
Het |
Abhd16b |
A |
T |
2: 181,136,518 (GRCm39) |
R473S |
probably benign |
Het |
Adcyap1r1 |
A |
G |
6: 55,474,140 (GRCm39) |
D492G |
probably damaging |
Het |
Ano5 |
A |
T |
7: 51,229,309 (GRCm39) |
N617I |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,588,769 (GRCm39) |
E281G |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,738,614 (GRCm39) |
|
probably null |
Het |
Dock8 |
G |
A |
19: 25,133,388 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,654,315 (GRCm39) |
V1449A |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,282,703 (GRCm39) |
D732G |
probably damaging |
Het |
Fam174c |
T |
A |
10: 80,010,161 (GRCm39) |
|
probably null |
Het |
Fhip2b |
A |
T |
14: 70,825,179 (GRCm39) |
S386T |
possibly damaging |
Het |
Gimap6 |
T |
C |
6: 48,684,951 (GRCm39) |
E45G |
probably benign |
Het |
Glt1d1 |
C |
A |
5: 127,771,364 (GRCm39) |
T285K |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,007,636 (GRCm39) |
Y86* |
probably null |
Het |
Grip2 |
A |
G |
6: 91,742,318 (GRCm39) |
S912P |
probably benign |
Het |
Hrh2 |
A |
T |
13: 54,368,299 (GRCm39) |
N92Y |
probably damaging |
Het |
Klrc2 |
T |
A |
6: 129,637,452 (GRCm39) |
Q23L |
possibly damaging |
Het |
Patl2 |
T |
C |
2: 121,955,591 (GRCm39) |
D285G |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,035,735 (GRCm39) |
V685A |
probably benign |
Het |
Rspry1 |
A |
G |
8: 95,380,857 (GRCm39) |
H511R |
probably benign |
Het |
Scarb1 |
G |
T |
5: 125,374,296 (GRCm39) |
A279E |
probably damaging |
Het |
Sell |
A |
G |
1: 163,893,114 (GRCm39) |
E110G |
probably damaging |
Het |
Sftpc |
A |
T |
14: 70,760,143 (GRCm39) |
I38N |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc5a4b |
C |
A |
10: 75,946,674 (GRCm39) |
V33F |
probably damaging |
Het |
Smad7 |
A |
G |
18: 75,527,161 (GRCm39) |
S336G |
probably damaging |
Het |
Tnpo3 |
C |
T |
6: 29,565,768 (GRCm39) |
V529I |
probably benign |
Het |
Trafd1 |
A |
G |
5: 121,517,727 (GRCm39) |
V22A |
probably benign |
Het |
Tssk1 |
A |
G |
16: 17,712,545 (GRCm39) |
E110G |
probably damaging |
Het |
Vmn1r159 |
A |
T |
7: 22,542,675 (GRCm39) |
V119D |
probably damaging |
Het |
Vmn1r191 |
A |
G |
13: 22,363,355 (GRCm39) |
F133S |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
Zw10 |
G |
T |
9: 48,966,942 (GRCm39) |
|
probably benign |
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 |
R8466:Gucy2d
|
UTSW |
7 |
98,099,237 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- TTCTGCTCTGGAAGAACCTG -3'
(R):5'- GTGTGAGCTGCTACAGACAG -3'
Sequencing Primer
(F):5'- TGGAAGAACCTGAGGCCCTTAAC -3'
(R):5'- TTAAGGCAAGGAGACCCAGTTCTC -3'
|
Posted On |
2022-10-06 |