Incidental Mutation 'R8412:Gucy2d'
| ID |
652741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2d
|
| Ensembl Gene |
ENSMUSG00000074003 |
| Gene Name |
guanylate cyclase 2d |
| Synonyms |
guanylyl cyclase D |
| MMRRC Submission |
067816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R8412 (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 C
at 98093046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 141
(V141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
| AlphaFold |
A0A0U1RPR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098274
AA Change: V140A
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: V140A
| 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 |
possibly damaging
Transcript: ENSMUST00000206435
AA Change: V141A
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
T |
A |
1: 183,765,356 (GRCm39) |
R234S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,870,092 (GRCm39) |
F806Y |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,629,643 (GRCm39) |
T286A |
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,395,546 (GRCm39) |
F674Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,069 (GRCm39) |
I2184V |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,356,854 (GRCm39) |
P884L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,294,554 (GRCm39) |
L90P |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,798,820 (GRCm39) |
I334F |
possibly damaging |
Het |
| Bmi1 |
C |
T |
2: 18,689,114 (GRCm39) |
T266I |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,104,517 (GRCm39) |
I301V |
probably damaging |
Het |
| Cenpx |
A |
T |
11: 120,602,558 (GRCm39) |
H68Q |
unknown |
Het |
| Cnot10 |
T |
C |
9: 114,439,738 (GRCm39) |
R524G |
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,206 (GRCm39) |
Y22* |
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,499,794 (GRCm39) |
R2114H |
|
Het |
| Defa29 |
T |
A |
8: 21,816,062 (GRCm39) |
T102S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,744,711 (GRCm39) |
I582T |
probably benign |
Het |
| Gm14295 |
G |
A |
2: 176,501,422 (GRCm39) |
C304Y |
probably damaging |
Het |
| Ifi47 |
A |
C |
11: 48,986,425 (GRCm39) |
Q64P |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,028 (GRCm39) |
S225R |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,340,581 (GRCm39) |
H289R |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,802,128 (GRCm39) |
D512G |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Med23 |
C |
A |
10: 24,784,632 (GRCm39) |
F1200L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,364,439 (GRCm39) |
D372V |
possibly damaging |
Het |
| Nob1 |
T |
A |
8: 108,148,230 (GRCm39) |
K71* |
probably null |
Het |
| Ntrk3 |
A |
G |
7: 78,005,897 (GRCm39) |
I488T |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,643,424 (GRCm39) |
C82F |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,360,022 (GRCm39) |
V969E |
possibly damaging |
Het |
| Ppme1 |
A |
T |
7: 99,984,298 (GRCm39) |
N307K |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,425,856 (GRCm39) |
C515Y |
probably benign |
Het |
| Rpp21 |
T |
A |
17: 36,568,591 (GRCm39) |
H22L |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Scgb1b7 |
A |
T |
7: 31,412,379 (GRCm39) |
K52* |
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,060,695 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 82,992,533 (GRCm39) |
R396H |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,922 (GRCm39) |
I58V |
probably benign |
Het |
| Slc9a9 |
A |
C |
9: 95,111,092 (GRCm39) |
T637P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,316 (GRCm39) |
C274S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,457 (GRCm39) |
V905A |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,404,102 (GRCm39) |
D759G |
possibly damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,117,033 (GRCm39) |
I200M |
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,139 (GRCm39) |
V360A |
possibly damaging |
Het |
| Trim12a |
A |
T |
7: 103,953,544 (GRCm39) |
M189K |
possibly damaging |
Het |
| Tspan32 |
T |
C |
7: 142,559,695 (GRCm39) |
F41L |
probably benign |
Het |
| Tube1 |
T |
A |
10: 39,021,657 (GRCm39) |
S301T |
possibly damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,578 (GRCm39) |
S596P |
probably benign |
Het |
| Virma |
T |
A |
4: 11,521,261 (GRCm39) |
|
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,722 (GRCm39) |
D307G |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,888,964 (GRCm39) |
K327R |
probably damaging |
Het |
| Zfp54 |
C |
T |
17: 21,654,910 (GRCm39) |
T468M |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,551 (GRCm39) |
I668N |
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 |
|
|
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 |
|
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'- GACTGTGACCCCATCTTTGC -3'
(R):5'- CTGTGGTTACCCAGATGTCC -3'
Sequencing Primer
(F):5'- GACCCCATCTTTGCCCAGG -3'
(R):5'- TCCTGGTGAGAGGACACAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation