Incidental Mutation 'R6468:Gucy2d'
| ID |
516427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2d
|
| Ensembl Gene |
ENSMUSG00000074003 |
| Gene Name |
guanylate cyclase 2d |
| Synonyms |
guanylyl cyclase D |
| MMRRC Submission |
044601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98089623-98126685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98099168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 329
(E329G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098274]
[ENSMUST00000206435]
|
| AlphaFold |
A0A0U1RPR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098274
AA Change: E328G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: E328G
| 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 benign
Transcript: ENSMUST00000206435
AA Change: E329G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (57/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,177,747 (GRCm39) |
V305A |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,198,012 (GRCm39) |
T91A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,595 (GRCm39) |
I860V |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,482,866 (GRCm39) |
S132P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,592 (GRCm39) |
I3368T |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,330,548 (GRCm39) |
V989D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,712,989 (GRCm39) |
D1807G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,854,987 (GRCm39) |
M807T |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,672,589 (GRCm39) |
D320G |
probably damaging |
Het |
| Cryzl1 |
A |
C |
16: 91,489,413 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
T |
16: 58,253,736 (GRCm39) |
K158* |
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,069,575 (GRCm39) |
N437S |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,855,464 (GRCm39) |
S1496L |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,864,274 (GRCm39) |
I931R |
probably benign |
Het |
| Eif2ak4 |
C |
A |
2: 118,266,722 (GRCm39) |
L714I |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,509 (GRCm39) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,409,413 (GRCm39) |
K238* |
probably null |
Het |
| Fam83f |
A |
G |
15: 80,576,312 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,067,687 (GRCm39) |
I42V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,121,728 (GRCm39) |
R1299S |
unknown |
Het |
| Gak |
G |
T |
5: 108,771,202 (GRCm39) |
C102* |
probably null |
Het |
| Gcnt7 |
A |
G |
2: 172,295,993 (GRCm39) |
L277P |
probably damaging |
Het |
| Hacd1 |
T |
C |
2: 14,040,755 (GRCm39) |
I167V |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,345,389 (GRCm39) |
D662V |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,155,883 (GRCm39) |
V674E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,290,320 (GRCm39) |
Q442R |
possibly damaging |
Het |
| Lce1j |
A |
T |
3: 92,696,729 (GRCm39) |
C16* |
probably null |
Het |
| Lrat |
A |
T |
3: 82,810,799 (GRCm39) |
M74K |
probably damaging |
Het |
| Lrig2 |
G |
A |
3: 104,374,509 (GRCm39) |
R191C |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,351,666 (GRCm39) |
F2558L |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,879,930 (GRCm39) |
|
probably null |
Het |
| Mecom |
T |
A |
3: 30,194,535 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
A |
G |
6: 138,118,585 (GRCm39) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,970,534 (GRCm39) |
E3A |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,448,300 (GRCm39) |
I942V |
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,524,600 (GRCm39) |
Y195C |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 55,669,252 (GRCm39) |
V22E |
probably benign |
Het |
| Or4n4b |
A |
T |
14: 50,535,924 (GRCm39) |
L281I |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,580 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,244,381 (GRCm39) |
N5I |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,562,389 (GRCm39) |
T1223A |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,910,305 (GRCm39) |
D811G |
probably damaging |
Het |
| Prep |
T |
A |
10: 44,991,203 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 180,840,895 (GRCm39) |
H215Q |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,582,971 (GRCm39) |
I474T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,343,513 (GRCm39) |
V3626E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,236,502 (GRCm39) |
V253M |
probably damaging |
Het |
| Snta1 |
T |
A |
2: 154,219,069 (GRCm39) |
D422V |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,131,150 (GRCm39) |
T620K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,203,086 (GRCm39) |
L160P |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,145,072 (GRCm39) |
F323S |
probably damaging |
Het |
| Uggt1 |
C |
T |
1: 36,212,531 (GRCm39) |
R937Q |
probably benign |
Het |
| Vash2 |
G |
A |
1: 190,710,484 (GRCm39) |
P57L |
probably damaging |
Het |
| Vmn1r4 |
G |
A |
6: 56,933,852 (GRCm39) |
V119I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,599 (GRCm39) |
D31G |
probably benign |
Het |
| Zfp114 |
T |
C |
7: 23,877,206 (GRCm39) |
V16A |
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 |
|
|
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 |
|
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'- GTGGTTCTGTGCATGCACTC -3'
(R):5'- CAGATGTGTCACTAGCCCAAGC -3'
Sequencing Primer
(F):5'- TTGGAGGCCTGGAGCAGAC -3'
(R):5'- GTCACTAGCCCAAGCCAGGAAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation