Incidental Mutation 'R6148:Gucy2d'
| ID |
489023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gucy2d
|
| Ensembl Gene |
ENSMUSG00000074003 |
| Gene Name |
guanylate cyclase 2d |
| Synonyms |
guanylyl cyclase D |
| MMRRC Submission |
044295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6148 (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 T
at 98093030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 136
(I136L)
|
| 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: I135L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095875
Gene: ENSMUSG00000074003
AA Change: I135L
| 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: I136L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
95% (61/64) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
| AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
| Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
| Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
| Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
| Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
| Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
| Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
| Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
| Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
| Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
| Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
| Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
| Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
| Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
| Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
| Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
| Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
| Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
| Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
| Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
| Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
| Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
|
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 |
|
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'- TTCCCTGTTAGCATGGGCAAG -3'
(R):5'- TCTCATGACAGACAGTAGCACATC -3'
Sequencing Primer
(F):5'- AAGAGAGACCTTCACCCTTGGG -3'
(R):5'- AGACAGTAGCACATCGGCCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation