Incidental Mutation 'R5096:Fzd9'
| ID |
388039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fzd9
|
| Ensembl Gene |
ENSMUSG00000049551 |
| Gene Name |
frizzled class receptor 9 |
| Synonyms |
mfz9, Fz9, frizzled 9 |
| MMRRC Submission |
042685-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.289)
|
| Stock # |
R5096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135277792-135279901 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135278713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 391
(V391I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002825]
[ENSMUST00000062572]
|
| AlphaFold |
Q9R216 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002825
|
| SMART Domains |
Protein: ENSMUSP00000002825
Gene: ENSMUSG00000002748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WAC_Acf1_DNA_bd
|
21 |
120 |
2.6e-28 |
PFAM |
|
low complexity region
|
312 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
587 |
N/A |
INTRINSIC |
|
DDT
|
605 |
669 |
5.59e-17 |
SMART |
|
Pfam:WHIM1
|
725 |
773 |
2.2e-9 |
PFAM |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
coiled coil region
|
854 |
890 |
N/A |
INTRINSIC |
|
Pfam:WHIM2
|
900 |
935 |
1.3e-10 |
PFAM |
|
Pfam:WHIM3
|
991 |
1029 |
1.5e-16 |
PFAM |
|
low complexity region
|
1131 |
1148 |
N/A |
INTRINSIC |
|
PHD
|
1186 |
1232 |
1.89e-14 |
SMART |
|
RING
|
1187 |
1231 |
7.85e-2 |
SMART |
|
low complexity region
|
1245 |
1277 |
N/A |
INTRINSIC |
|
BROMO
|
1333 |
1441 |
3.63e-37 |
SMART |
|
low complexity region
|
1459 |
1472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062572
AA Change: V391I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053551
Gene: ENSMUSG00000049551
AA Change: V391I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
FRI
|
39 |
158 |
1.97e-73 |
SMART |
|
low complexity region
|
177 |
195 |
N/A |
INTRINSIC |
|
Frizzled
|
222 |
548 |
4.64e-199 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
95% (61/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
| Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,340,082 (GRCm39) |
C407S |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
probably damaging |
Het |
|
| Other mutations in Fzd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Fzd9
|
APN |
5 |
135,278,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Fzd9
|
APN |
5 |
135,279,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Fzd9
|
APN |
5 |
135,278,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
alexei
|
UTSW |
5 |
135,279,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nicholas
|
UTSW |
5 |
135,279,178 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0308:Fzd9
|
UTSW |
5 |
135,278,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0417:Fzd9
|
UTSW |
5 |
135,278,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1563:Fzd9
|
UTSW |
5 |
135,279,408 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1638:Fzd9
|
UTSW |
5 |
135,278,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Fzd9
|
UTSW |
5 |
135,278,425 (GRCm39) |
missense |
probably benign |
|
|
R2046:Fzd9
|
UTSW |
5 |
135,278,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Fzd9
|
UTSW |
5 |
135,279,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Fzd9
|
UTSW |
5 |
135,278,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Fzd9
|
UTSW |
5 |
135,278,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4079:Fzd9
|
UTSW |
5 |
135,278,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4576:Fzd9
|
UTSW |
5 |
135,279,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4662:Fzd9
|
UTSW |
5 |
135,278,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Fzd9
|
UTSW |
5 |
135,278,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Fzd9
|
UTSW |
5 |
135,278,460 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5452:Fzd9
|
UTSW |
5 |
135,279,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Fzd9
|
UTSW |
5 |
135,279,123 (GRCm39) |
splice site |
probably null |
|
|
R5888:Fzd9
|
UTSW |
5 |
135,278,317 (GRCm39) |
splice site |
probably null |
|
|
R5914:Fzd9
|
UTSW |
5 |
135,278,199 (GRCm39) |
missense |
probably benign |
|
|
R7148:Fzd9
|
UTSW |
5 |
135,278,544 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7544:Fzd9
|
UTSW |
5 |
135,278,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Fzd9
|
UTSW |
5 |
135,279,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Fzd9
|
UTSW |
5 |
135,278,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8893:Fzd9
|
UTSW |
5 |
135,279,178 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8927:Fzd9
|
UTSW |
5 |
135,278,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Fzd9
|
UTSW |
5 |
135,278,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Fzd9
|
UTSW |
5 |
135,279,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9240:Fzd9
|
UTSW |
5 |
135,278,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Fzd9
|
UTSW |
5 |
135,278,575 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACGTAGCAGACAATGACGC -3'
(R):5'- TTGACTCTAACCTGGTTCCTGG -3'
Sequencing Primer
(F):5'- AGACTCCGATTTTGACCATCAG -3'
(R):5'- TAACCTGGTTCCTGGCTGCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation