Incidental Mutation 'R9736:Gucy2d'
| ID |
731671 |
| 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 # |
R9736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 98092683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 20
(W20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
| AlphaFold |
A0A0U1RPR8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098274
AA Change: W19*
|
| SMART Domains |
Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: W19*
| 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 null
Transcript: ENSMUST00000206435
AA Change: W20*
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,022,212 (GRCm39) |
I204T |
probably benign |
Het |
| Apc |
T |
A |
18: 34,450,823 (GRCm39) |
I2573N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,733 (GRCm39) |
D1204G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,474,078 (GRCm39) |
F1122I |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,207,393 (GRCm39) |
S151A |
probably damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,597 (GRCm39) |
L191F |
probably benign |
Het |
| Cd109 |
C |
T |
9: 78,619,918 (GRCm39) |
P1387S |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,872,041 (GRCm39) |
L635S |
possibly damaging |
Het |
| Cntfr |
T |
C |
4: 41,658,290 (GRCm39) |
T357A |
unknown |
Het |
| Cpox |
A |
G |
16: 58,494,746 (GRCm39) |
N261S |
probably benign |
Het |
| Crygb |
A |
T |
1: 65,119,707 (GRCm39) |
M91K |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,442,430 (GRCm39) |
K634R |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dmgdh |
T |
G |
13: 93,843,158 (GRCm39) |
F331L |
possibly damaging |
Het |
| Dpp10 |
T |
A |
1: 123,262,088 (GRCm39) |
I765F |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,194,751 (GRCm39) |
D1096V |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,059,597 (GRCm39) |
T696I |
probably damaging |
Het |
| Gopc |
A |
T |
10: 52,229,558 (GRCm39) |
D220E |
possibly damaging |
Het |
| Grin3a |
C |
A |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| Gsdma |
C |
T |
11: 98,567,169 (GRCm39) |
P423L |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,058,217 (GRCm39) |
R72W |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,157,929 (GRCm39) |
I1421V |
unknown |
Het |
| Mab21l4 |
A |
G |
1: 93,087,661 (GRCm39) |
V64A |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,699,123 (GRCm39) |
Q467* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,434,852 (GRCm39) |
V2197A |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,063,999 (GRCm39) |
S20P |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,951,600 (GRCm39) |
I210M |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,626 (GRCm39) |
H54Q |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,961,640 (GRCm39) |
R122S |
probably damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,920 (GRCm39) |
I35N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,339 (GRCm39) |
V227A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,797,411 (GRCm39) |
I1309K |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 66,997,562 (GRCm39) |
Y1178F |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,619,988 (GRCm39) |
S185P |
probably benign |
Het |
| Wdr37 |
C |
A |
13: 8,911,136 (GRCm39) |
M42I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,631,202 (GRCm39) |
E610D |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,741 (GRCm39) |
F572L |
unknown |
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 |
|
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 |
|
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'- GTCCACAACGCCATATTGTC -3'
(R):5'- CAAAGATGGGGTCACAGTCC -3'
Sequencing Primer
(F):5'- GTTGCCCATATTTTCAGAGGAAG -3'
(R):5'- TCCCAGGGACCCAGCAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation