Incidental Mutation 'R9444:Mfrp'
ID |
713819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfrp
|
Ensembl Gene |
ENSMUSG00000034739 |
Gene Name |
membrane frizzled-related protein |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R9444 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44013067-44020484 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44017440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 505
(I505N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034654]
[ENSMUST00000056328]
[ENSMUST00000065379]
[ENSMUST00000114815]
[ENSMUST00000114816]
[ENSMUST00000114818]
[ENSMUST00000114821]
[ENSMUST00000152956]
[ENSMUST00000161381]
[ENSMUST00000161703]
[ENSMUST00000162126]
[ENSMUST00000185479]
[ENSMUST00000205282]
[ENSMUST00000205500]
[ENSMUST00000206295]
[ENSMUST00000206308]
[ENSMUST00000206769]
[ENSMUST00000215685]
[ENSMUST00000216511]
|
AlphaFold |
Q8K480 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034654
AA Change: I505N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034654 Gene: ENSMUSG00000034739 AA Change: I505N
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: ENSMUST00000056328
|
SMART Domains |
Protein: ENSMUSP00000110478 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: 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: ENSMUST00000160985
|
SMART Domains |
Protein: ENSMUSP00000124568 Gene: ENSMUSG00000053128
Domain | Start | End | E-Value | Type |
RING
|
11 |
52 |
1.57e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161381
AA Change: I499N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124456 Gene: ENSMUSG00000034739 AA Change: I499N
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 |
probably benign
Transcript: ENSMUST00000161703
|
SMART Domains |
Protein: ENSMUSP00000125053 Gene: ENSMUSG00000034739
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 |
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 |
|
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: ENSMUST00000205282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206295
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206308
AA Change: I505N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206769
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215685
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216511
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
C |
6: 146,854,724 (GRCm39) |
D106G |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,384,020 (GRCm39) |
I2183T |
probably damaging |
Het |
Adam17 |
A |
C |
12: 21,375,536 (GRCm39) |
L761R |
probably benign |
Het |
Apobr |
A |
G |
7: 126,185,140 (GRCm39) |
D217G |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,052,909 (GRCm39) |
Y434* |
probably null |
Het |
Brwd1 |
T |
C |
16: 95,855,180 (GRCm39) |
D416G |
possibly damaging |
Het |
C1qtnf2 |
T |
C |
11: 43,376,661 (GRCm39) |
I11T |
probably damaging |
Het |
C1qtnf6 |
C |
T |
15: 78,411,544 (GRCm39) |
C44Y |
probably damaging |
Het |
Cacna1d |
A |
C |
14: 29,829,741 (GRCm39) |
|
probably null |
Het |
Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,075,385 (GRCm39) |
D490G |
|
Het |
Cilp2 |
T |
C |
8: 70,335,546 (GRCm39) |
D484G |
probably damaging |
Het |
Col8a1 |
C |
A |
16: 57,448,455 (GRCm39) |
G352* |
probably null |
Het |
Csmd1 |
A |
G |
8: 16,208,250 (GRCm39) |
F1235S |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,607,127 (GRCm39) |
D2260E |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,318,347 (GRCm39) |
F430L |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,778,455 (GRCm39) |
I485K |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,560,265 (GRCm39) |
V1414A |
probably benign |
Het |
Galnt13 |
C |
A |
2: 55,002,928 (GRCm39) |
S578R |
probably benign |
Het |
Gfra2 |
T |
A |
14: 71,203,751 (GRCm39) |
M300K |
possibly damaging |
Het |
Gm12695 |
C |
T |
4: 96,612,195 (GRCm39) |
A523T |
probably damaging |
Het |
Gm19965 |
T |
C |
1: 116,732,393 (GRCm39) |
S79P |
|
Het |
Hsf1 |
T |
C |
15: 76,384,769 (GRCm39) |
S487P |
probably damaging |
Het |
Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
Jag1 |
A |
C |
2: 136,936,397 (GRCm39) |
W366G |
probably damaging |
Het |
Larp4 |
T |
C |
15: 99,909,807 (GRCm39) |
S638P |
probably benign |
Het |
Lipm |
A |
G |
19: 34,098,690 (GRCm39) |
D388G |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,013,730 (GRCm39) |
Y1925F |
|
Het |
Lrrc37 |
G |
A |
11: 103,508,846 (GRCm39) |
Q1041* |
probably null |
Het |
Mchr1 |
T |
C |
15: 81,121,919 (GRCm39) |
V223A |
possibly damaging |
Het |
Msc |
T |
C |
1: 14,825,714 (GRCm39) |
K87E |
probably damaging |
Het |
Myo7a |
A |
G |
7: 97,742,698 (GRCm39) |
F433L |
possibly damaging |
Het |
Ncapg2 |
G |
A |
12: 116,370,863 (GRCm39) |
R4H |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,110,805 (GRCm39) |
L299F |
probably damaging |
Het |
Nup210 |
T |
A |
6: 91,048,885 (GRCm39) |
Y457F |
probably benign |
Het |
Or4k15c |
T |
C |
14: 50,321,869 (GRCm39) |
K90E |
|
Het |
Or4k48 |
T |
C |
2: 111,476,132 (GRCm39) |
D70G |
probably damaging |
Het |
Or5h18 |
T |
C |
16: 58,848,018 (GRCm39) |
D84G |
probably benign |
Het |
Or5t18 |
T |
A |
2: 86,636,486 (GRCm39) |
I286F |
|
Het |
Or8g32 |
A |
G |
9: 39,305,365 (GRCm39) |
N90D |
probably benign |
Het |
Ovgp1 |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
3: 105,893,841 (GRCm39) |
|
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,478,176 (GRCm39) |
Y217C |
probably damaging |
Het |
Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,418,053 (GRCm39) |
E2903G |
probably benign |
Het |
Pnp |
T |
C |
14: 51,188,052 (GRCm39) |
V113A |
probably damaging |
Het |
Prss35 |
A |
G |
9: 86,638,157 (GRCm39) |
D309G |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,487,362 (GRCm39) |
R501G |
|
Het |
Rfx8 |
A |
T |
1: 39,709,476 (GRCm39) |
V517D |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,325,623 (GRCm39) |
Y1509C |
|
Het |
Rtp4 |
T |
C |
16: 23,431,836 (GRCm39) |
Y123H |
probably benign |
Het |
Sema3e |
A |
G |
5: 14,302,625 (GRCm39) |
I717V |
possibly damaging |
Het |
Stap2 |
A |
T |
17: 56,307,907 (GRCm39) |
V150E |
possibly damaging |
Het |
Stard9 |
C |
A |
2: 120,495,414 (GRCm39) |
N96K |
probably damaging |
Het |
Stoml2 |
T |
C |
4: 43,030,442 (GRCm39) |
T93A |
probably damaging |
Het |
Suclg2 |
T |
C |
6: 95,543,474 (GRCm39) |
D319G |
probably damaging |
Het |
Tcf12 |
C |
T |
9: 72,018,040 (GRCm39) |
D19N |
probably damaging |
Het |
Tcp10c |
T |
A |
17: 13,581,503 (GRCm39) |
|
probably null |
Het |
Tll1 |
T |
C |
8: 64,469,123 (GRCm39) |
Y1000C |
probably damaging |
Het |
Trappc10 |
G |
T |
10: 78,033,612 (GRCm39) |
T985N |
probably benign |
Het |
Trpc7 |
T |
A |
13: 56,923,968 (GRCm39) |
K794M |
possibly damaging |
Het |
Unc5c |
G |
T |
3: 141,507,209 (GRCm39) |
|
probably null |
Het |
Upf2 |
T |
A |
2: 6,023,755 (GRCm39) |
C702S |
unknown |
Het |
Wdhd1 |
A |
G |
14: 47,488,324 (GRCm39) |
F728L |
possibly 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 |
R2512:Mfrp
|
UTSW |
9 |
44,013,835 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
Z1177:Mfrp
|
UTSW |
9 |
44,013,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCCTCTTGAGAGACTCAG -3'
(R):5'- TAGGATAGTGCCCAGTGAGGTG -3'
Sequencing Primer
(F):5'- CTCTTGAGAGACTCAGAAGTGCC -3'
(R):5'- TGCATCGAGGCACAAGC -3'
|
Posted On |
2022-06-15 |