Incidental Mutation 'R2512:Mfrp'
| ID |
253466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfrp
|
| Ensembl Gene |
ENSMUSG00000034739 |
| Gene Name |
membrane frizzled-related protein |
| Synonyms |
|
| MMRRC Submission |
040418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R2512 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44013067-44020484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44013835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034654]
[ENSMUST00000065379]
[ENSMUST00000114815]
[ENSMUST00000114816]
[ENSMUST00000114818]
[ENSMUST00000114821]
[ENSMUST00000152956]
[ENSMUST00000161381]
[ENSMUST00000161703]
[ENSMUST00000205282]
[ENSMUST00000206308]
[ENSMUST00000206769]
[ENSMUST00000205500]
[ENSMUST00000206295]
[ENSMUST00000185479]
[ENSMUST00000162126]
|
| AlphaFold |
Q8K480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034654
AA Change: V115A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
CUB
|
150 |
259 |
3.6e-35 |
SMART |
|
LDLa
|
265 |
302 |
1.5e-8 |
SMART |
|
CUB
|
307 |
420 |
1.85e-37 |
SMART |
|
Pfam:Fz
|
471 |
577 |
3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065379
|
| SMART Domains |
Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
RING
|
371 |
412 |
1.57e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114815
|
| SMART Domains |
Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
91 |
N/A |
INTRINSIC |
|
C1Q
|
97 |
235 |
2.09e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114816
|
| SMART Domains |
Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
91 |
N/A |
INTRINSIC |
|
C1Q
|
97 |
235 |
2.09e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114818
|
| SMART Domains |
Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
91 |
N/A |
INTRINSIC |
|
C1Q
|
97 |
235 |
2.09e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114821
|
| SMART Domains |
Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
91 |
N/A |
INTRINSIC |
|
C1Q
|
97 |
220 |
1.01e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152956
|
| SMART Domains |
Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
28 |
102 |
7.2e-10 |
PFAM |
|
Pfam:C1q
|
105 |
138 |
1.5e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161381
AA Change: V115A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
CUB
|
150 |
259 |
3.6e-35 |
SMART |
|
LDLa
|
265 |
302 |
1.5e-8 |
SMART |
|
CUB
|
307 |
420 |
1.85e-37 |
SMART |
|
Pfam:Fz
|
465 |
576 |
9.1e-22 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161703
AA Change: V115A
|
| SMART Domains |
Protein: ENSMUSP00000125053
Gene: ENSMUSG00000034739
AA Change: V115A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
CUB
|
150 |
259 |
3.6e-35 |
SMART |
|
LDLa
|
265 |
302 |
1.5e-8 |
SMART |
|
LDLa
|
307 |
342 |
2.09e0 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205282
AA Change: S81P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206308
AA Change: V115A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206722
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206769
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160985
|
| SMART Domains |
Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
11 |
52 |
1.57e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185479
|
| SMART Domains |
Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
RING
|
371 |
412 |
1.57e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162126
|
| SMART Domains |
Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
transmembrane domain
|
183 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
225 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
316 |
N/A |
INTRINSIC |
|
RING
|
371 |
412 |
1.57e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene contains a region with similarity to the cysteine-rich domain (CRD) of frizzled, a gene originally found in Drosophila that controls tissue polarity. This protein functions in eye development, where it is necessary for the maintenance of photoreceptor outer segments. Mutations in this gene cause retinal degeneration 6 in mice, which gives rise to a mouse model for human retinitis punctata albescens. Bicistronic transcripts composed of the coding sequences for this gene (Mfrp) and the C1q and tumor necrosis factor related protein 5 gene (C1qtnf5) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mutations produce mice having small, white retinal spots and progressive photoreceptor degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,219,945 (GRCm39) |
T831A |
possibly damaging |
Het |
| Actg2 |
T |
A |
6: 83,503,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,774,030 (GRCm39) |
T80A |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,483,591 (GRCm39) |
T139M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,078,973 (GRCm39) |
R325H |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,917 (GRCm39) |
P140S |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,486,708 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
A |
T |
8: 106,424,025 (GRCm39) |
I1293F |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,495 (GRCm39) |
T39A |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,651 (GRCm39) |
T60A |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,245,868 (GRCm39) |
N206K |
possibly damaging |
Het |
| Copg2 |
C |
T |
6: 30,873,591 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
G |
7: 110,646,078 (GRCm39) |
I690S |
probably damaging |
Het |
| Dcaf8 |
T |
G |
1: 172,016,602 (GRCm39) |
I463S |
possibly damaging |
Het |
| Dcp1b |
G |
T |
6: 119,183,473 (GRCm39) |
A187S |
possibly damaging |
Het |
| Ddo |
T |
A |
10: 40,508,935 (GRCm39) |
D58E |
possibly damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,157 (GRCm39) |
R137S |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,718 (GRCm39) |
N115S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,856,781 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,714,098 (GRCm39) |
V7A |
probably benign |
Het |
| Fermt1 |
G |
T |
2: 132,781,438 (GRCm39) |
|
probably null |
Het |
| Fign |
A |
T |
2: 63,810,143 (GRCm39) |
F376I |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,082 (GRCm39) |
G370V |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,793,715 (GRCm39) |
D953E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,511 (GRCm39) |
H1610L |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,837,564 (GRCm39) |
N145D |
probably benign |
Het |
| Inpp4b |
G |
T |
8: 82,737,179 (GRCm39) |
W525C |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lgi2 |
A |
G |
5: 52,695,307 (GRCm39) |
*543R |
probably null |
Het |
| Lyn |
A |
G |
4: 3,745,542 (GRCm39) |
T114A |
probably benign |
Het |
| Lynx1 |
A |
G |
15: 74,623,169 (GRCm39) |
Y88H |
probably damaging |
Het |
| Map4 |
C |
A |
9: 109,863,770 (GRCm39) |
P332T |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,133,677 (GRCm39) |
C250* |
probably null |
Het |
| Metap1d |
A |
G |
2: 71,352,954 (GRCm39) |
H261R |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,440,932 (GRCm39) |
Y373C |
probably damaging |
Het |
| Mtor |
C |
A |
4: 148,614,948 (GRCm39) |
R1628S |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,813 (GRCm39) |
N1920D |
unknown |
Het |
| Myo1d |
T |
A |
11: 80,670,543 (GRCm39) |
M26L |
probably benign |
Het |
| Neb |
A |
C |
2: 52,100,843 (GRCm39) |
D643E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,851,513 (GRCm39) |
F108L |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,207 (GRCm39) |
S249P |
probably damaging |
Het |
| Or8c15 |
G |
T |
9: 38,120,670 (GRCm39) |
C54F |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,140,326 (GRCm39) |
D82E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,762,612 (GRCm39) |
D3695G |
unknown |
Het |
| Pcnx4 |
A |
T |
12: 72,603,573 (GRCm39) |
|
probably null |
Het |
| Plg |
A |
G |
17: 12,622,116 (GRCm39) |
T479A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
| Ptgis |
T |
C |
2: 167,049,196 (GRCm39) |
D372G |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 8,997,949 (GRCm39) |
T14A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,195,508 (GRCm39) |
V230D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,184,688 (GRCm39) |
D1609G |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,967 (GRCm39) |
L696F |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,529 (GRCm39) |
D858E |
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,329,037 (GRCm39) |
V993I |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,487,616 (GRCm39) |
I901F |
unknown |
Het |
| Slc17a3 |
A |
T |
13: 24,030,230 (GRCm39) |
I114F |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,288 (GRCm39) |
L71Q |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,461,403 (GRCm39) |
S452P |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,994 (GRCm39) |
N173S |
possibly damaging |
Het |
| Tbc1d21 |
T |
C |
9: 58,270,195 (GRCm39) |
Y161C |
probably damaging |
Het |
| Tpsab1 |
C |
A |
17: 25,564,081 (GRCm39) |
C94F |
probably damaging |
Het |
| Ubr5 |
G |
A |
15: 38,002,563 (GRCm39) |
P1496L |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,710,767 (GRCm39) |
A2679S |
possibly damaging |
Het |
| Vdac1 |
T |
A |
11: 52,274,904 (GRCm39) |
V184E |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,985 (GRCm39) |
S287R |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,048 (GRCm39) |
F572L |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,701 (GRCm39) |
E3125K |
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,259,059 (GRCm39) |
N406S |
possibly damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,251 (GRCm39) |
K158E |
probably damaging |
Het |
|
| Other mutations in Mfrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02070:Mfrp
|
APN |
9 |
44,015,986 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02077:Mfrp
|
APN |
9 |
44,016,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02313:Mfrp
|
APN |
9 |
44,014,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Mfrp
|
APN |
9 |
44,014,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02709:Mfrp
|
APN |
9 |
44,014,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1592:Mfrp
|
UTSW |
9 |
44,014,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Mfrp
|
UTSW |
9 |
44,015,884 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1729:Mfrp
|
UTSW |
9 |
44,015,884 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1886:Mfrp
|
UTSW |
9 |
44,014,785 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1974:Mfrp
|
UTSW |
9 |
44,017,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Mfrp
|
UTSW |
9 |
44,015,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2150:Mfrp
|
UTSW |
9 |
44,015,015 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3788:Mfrp
|
UTSW |
9 |
44,016,754 (GRCm39) |
nonsense |
probably null |
|
|
R4204:Mfrp
|
UTSW |
9 |
44,016,525 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4240:Mfrp
|
UTSW |
9 |
44,014,163 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4839:Mfrp
|
UTSW |
9 |
44,013,432 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4963:Mfrp
|
UTSW |
9 |
44,014,561 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5041:Mfrp
|
UTSW |
9 |
44,013,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Mfrp
|
UTSW |
9 |
44,017,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Mfrp
|
UTSW |
9 |
44,013,773 (GRCm39) |
unclassified |
probably benign |
|
|
R7454:Mfrp
|
UTSW |
9 |
44,016,480 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8750:Mfrp
|
UTSW |
9 |
44,014,802 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8850:Mfrp
|
UTSW |
9 |
44,013,807 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9138:Mfrp
|
UTSW |
9 |
44,017,673 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9430:Mfrp
|
UTSW |
9 |
44,014,570 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9444:Mfrp
|
UTSW |
9 |
44,017,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mfrp
|
UTSW |
9 |
44,013,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGGAGGGCTTTACATGG -3'
(R):5'- CTGAAGAAACCACTGGGACC -3'
Sequencing Primer
(F):5'- GAGATCCCATGAGCTATTCTGTCAG -3'
(R):5'- TCAACAGGAGAGAGGTCTTCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation