Incidental Mutation 'R4424:Impg2'
ID |
327293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg2
|
Ensembl Gene |
ENSMUSG00000035270 |
Gene Name |
interphotoreceptor matrix proteoglycan 2 |
Synonyms |
IPM200, Spacrcan, PG10.2 |
MMRRC Submission |
041696-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4424 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56080388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 622
(V622I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
AlphaFold |
Q80XH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069936
AA Change: V731I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000063648 Gene: ENSMUSG00000035270 AA Change: V731I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
SEA
|
235 |
345 |
7.7e-29 |
SMART |
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
low complexity region
|
419 |
444 |
N/A |
INTRINSIC |
SEA
|
895 |
1018 |
2.18e-28 |
SMART |
EGF_like
|
1016 |
1054 |
3.57e1 |
SMART |
EGF_like
|
1056 |
1096 |
3.04e1 |
SMART |
transmembrane domain
|
1105 |
1127 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160116
AA Change: V622I
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125135 Gene: ENSMUSG00000035270 AA Change: V622I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
SEA
|
235 |
345 |
7.7e-29 |
SMART |
SEA
|
786 |
909 |
2.18e-28 |
SMART |
EGF_like
|
907 |
945 |
3.57e1 |
SMART |
EGF_like
|
947 |
987 |
3.04e1 |
SMART |
transmembrane domain
|
996 |
1018 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
95% (69/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,445,491 (GRCm39) |
|
probably benign |
Het |
Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
Ankrd16 |
T |
A |
2: 11,789,215 (GRCm39) |
D267E |
possibly damaging |
Het |
Apol11b |
A |
G |
15: 77,522,133 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,741,151 (GRCm39) |
D98E |
probably benign |
Het |
Art2b |
T |
A |
7: 101,229,129 (GRCm39) |
I257F |
probably benign |
Het |
Atp5f1a |
T |
A |
18: 77,867,766 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,738,928 (GRCm39) |
T861A |
probably benign |
Het |
Cep164 |
A |
T |
9: 45,691,002 (GRCm39) |
F1259L |
possibly damaging |
Het |
Cfap91 |
G |
T |
16: 38,140,727 (GRCm39) |
P409T |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,123,512 (GRCm39) |
V350A |
probably benign |
Het |
Clcn7 |
T |
C |
17: 25,379,150 (GRCm39) |
L744P |
probably damaging |
Het |
Csl |
T |
A |
10: 99,594,453 (GRCm39) |
D204V |
possibly damaging |
Het |
Cstdc3 |
A |
G |
16: 36,132,951 (GRCm39) |
D76G |
probably null |
Het |
Cyp2c29 |
G |
T |
19: 39,275,620 (GRCm39) |
W20L |
probably damaging |
Het |
Dhrs13 |
G |
T |
11: 77,927,951 (GRCm39) |
G266* |
probably null |
Het |
Dll3 |
T |
C |
7: 27,995,716 (GRCm39) |
N362D |
probably damaging |
Het |
Efcab3 |
T |
G |
11: 104,626,940 (GRCm39) |
|
probably null |
Het |
Fanca |
A |
G |
8: 124,015,532 (GRCm39) |
V715A |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Fpr2 |
C |
T |
17: 18,113,394 (GRCm39) |
P130L |
probably damaging |
Het |
Glce |
A |
G |
9: 61,967,535 (GRCm39) |
Y539H |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,866 (GRCm39) |
V91E |
probably benign |
Het |
Hoxd13 |
A |
T |
2: 74,500,301 (GRCm39) |
K281* |
probably null |
Het |
Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
Jun |
A |
G |
4: 94,939,084 (GRCm39) |
M142T |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,652,929 (GRCm39) |
C216* |
probably null |
Het |
Lin54 |
G |
T |
5: 100,594,419 (GRCm39) |
T582K |
probably damaging |
Het |
Mapk11 |
A |
G |
15: 89,029,576 (GRCm39) |
|
probably null |
Het |
Mindy3 |
A |
G |
2: 12,353,010 (GRCm39) |
M397T |
probably benign |
Het |
Mrpl41 |
T |
C |
2: 24,864,418 (GRCm39) |
T85A |
possibly damaging |
Het |
Msh6 |
T |
A |
17: 88,298,217 (GRCm39) |
L1354* |
probably null |
Het |
Mtmr12 |
T |
C |
15: 12,230,400 (GRCm39) |
V41A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,083,551 (GRCm39) |
Q1478L |
probably benign |
Het |
Myo6 |
A |
G |
9: 80,195,320 (GRCm39) |
K897E |
probably benign |
Het |
Naprt |
G |
T |
15: 75,764,605 (GRCm39) |
|
probably null |
Het |
Nrl |
G |
A |
14: 55,759,675 (GRCm39) |
S84L |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,744,128 (GRCm39) |
|
probably benign |
Het |
Or8g2b |
A |
T |
9: 39,751,652 (GRCm39) |
R307S |
possibly damaging |
Het |
Panx2 |
G |
T |
15: 88,952,423 (GRCm39) |
V305F |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,795,632 (GRCm39) |
L212P |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,320 (GRCm39) |
T133I |
probably benign |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,591,603 (GRCm39) |
K2694E |
probably damaging |
Het |
Psma8 |
A |
G |
18: 14,854,247 (GRCm39) |
I42M |
probably damaging |
Het |
Ptprd |
A |
T |
4: 76,021,200 (GRCm39) |
M599K |
probably benign |
Het |
Rnmt |
A |
G |
18: 68,444,742 (GRCm39) |
D237G |
probably null |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scaf11 |
G |
A |
15: 96,316,309 (GRCm39) |
T1085I |
possibly damaging |
Het |
Sec14l3 |
G |
A |
11: 4,016,210 (GRCm39) |
R43Q |
probably damaging |
Het |
Shc4 |
G |
T |
2: 125,494,442 (GRCm39) |
T131K |
probably benign |
Het |
Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,367,379 (GRCm39) |
T228A |
probably damaging |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Sptan1 |
C |
T |
2: 29,919,721 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Upf3a |
C |
A |
8: 13,846,573 (GRCm39) |
P318T |
probably benign |
Het |
Zbtb40 |
A |
T |
4: 136,726,005 (GRCm39) |
M518K |
probably damaging |
Het |
Zcchc14 |
G |
A |
8: 122,378,680 (GRCm39) |
|
probably benign |
Het |
Zfp687 |
G |
A |
3: 94,916,439 (GRCm39) |
P861L |
probably damaging |
Het |
|
Other mutations in Impg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00542:Impg2
|
APN |
16 |
56,081,968 (GRCm39) |
nonsense |
probably null |
|
IGL01097:Impg2
|
APN |
16 |
56,081,010 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01115:Impg2
|
APN |
16 |
56,079,803 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01545:Impg2
|
APN |
16 |
56,046,080 (GRCm39) |
splice site |
probably benign |
|
IGL01644:Impg2
|
APN |
16 |
56,080,233 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01690:Impg2
|
APN |
16 |
56,025,568 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01781:Impg2
|
APN |
16 |
56,072,588 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01801:Impg2
|
APN |
16 |
56,057,111 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01980:Impg2
|
APN |
16 |
56,041,890 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02059:Impg2
|
APN |
16 |
56,080,335 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02140:Impg2
|
APN |
16 |
56,079,831 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02206:Impg2
|
APN |
16 |
56,079,960 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02245:Impg2
|
APN |
16 |
56,089,445 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02584:Impg2
|
APN |
16 |
56,085,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Impg2
|
APN |
16 |
56,088,779 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03123:Impg2
|
APN |
16 |
56,087,485 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03280:Impg2
|
APN |
16 |
56,088,631 (GRCm39) |
nonsense |
probably null |
|
R0051:Impg2
|
UTSW |
16 |
56,078,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:Impg2
|
UTSW |
16 |
56,082,005 (GRCm39) |
missense |
probably damaging |
0.99 |
R0193:Impg2
|
UTSW |
16 |
56,085,412 (GRCm39) |
nonsense |
probably null |
|
R0270:Impg2
|
UTSW |
16 |
56,089,378 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0326:Impg2
|
UTSW |
16 |
56,080,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Impg2
|
UTSW |
16 |
56,072,627 (GRCm39) |
missense |
probably damaging |
0.99 |
R0812:Impg2
|
UTSW |
16 |
56,078,302 (GRCm39) |
intron |
probably benign |
|
R1074:Impg2
|
UTSW |
16 |
56,085,541 (GRCm39) |
splice site |
probably benign |
|
R1283:Impg2
|
UTSW |
16 |
56,078,302 (GRCm39) |
intron |
probably benign |
|
R1618:Impg2
|
UTSW |
16 |
56,080,221 (GRCm39) |
missense |
probably damaging |
0.97 |
R1708:Impg2
|
UTSW |
16 |
56,085,441 (GRCm39) |
missense |
probably benign |
0.10 |
R1713:Impg2
|
UTSW |
16 |
56,080,889 (GRCm39) |
missense |
probably benign |
0.25 |
R1827:Impg2
|
UTSW |
16 |
56,087,583 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1853:Impg2
|
UTSW |
16 |
56,080,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Impg2
|
UTSW |
16 |
56,063,993 (GRCm39) |
critical splice donor site |
probably null |
|
R2100:Impg2
|
UTSW |
16 |
56,051,748 (GRCm39) |
splice site |
probably null |
|
R2125:Impg2
|
UTSW |
16 |
56,085,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Impg2
|
UTSW |
16 |
56,038,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R2195:Impg2
|
UTSW |
16 |
56,080,497 (GRCm39) |
missense |
probably benign |
0.39 |
R2247:Impg2
|
UTSW |
16 |
56,088,627 (GRCm39) |
missense |
probably damaging |
0.97 |
R2366:Impg2
|
UTSW |
16 |
56,080,236 (GRCm39) |
missense |
probably benign |
0.04 |
R2411:Impg2
|
UTSW |
16 |
56,072,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4193:Impg2
|
UTSW |
16 |
56,088,774 (GRCm39) |
missense |
probably benign |
0.00 |
R4356:Impg2
|
UTSW |
16 |
56,080,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Impg2
|
UTSW |
16 |
56,082,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Impg2
|
UTSW |
16 |
56,078,302 (GRCm39) |
intron |
probably benign |
|
R5024:Impg2
|
UTSW |
16 |
56,080,463 (GRCm39) |
missense |
probably damaging |
0.97 |
R5278:Impg2
|
UTSW |
16 |
56,041,880 (GRCm39) |
missense |
probably benign |
0.06 |
R5383:Impg2
|
UTSW |
16 |
56,063,989 (GRCm39) |
missense |
probably benign |
0.03 |
R5766:Impg2
|
UTSW |
16 |
56,080,183 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5909:Impg2
|
UTSW |
16 |
56,078,499 (GRCm39) |
missense |
probably damaging |
0.99 |
R6525:Impg2
|
UTSW |
16 |
56,025,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R6684:Impg2
|
UTSW |
16 |
56,080,292 (GRCm39) |
missense |
probably benign |
0.33 |
R6692:Impg2
|
UTSW |
16 |
56,072,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R6711:Impg2
|
UTSW |
16 |
56,085,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R6909:Impg2
|
UTSW |
16 |
56,024,947 (GRCm39) |
missense |
probably damaging |
0.97 |
R6959:Impg2
|
UTSW |
16 |
56,088,693 (GRCm39) |
missense |
probably benign |
0.01 |
R7226:Impg2
|
UTSW |
16 |
56,087,467 (GRCm39) |
nonsense |
probably null |
|
R7456:Impg2
|
UTSW |
16 |
56,080,276 (GRCm39) |
missense |
probably benign |
0.03 |
R7528:Impg2
|
UTSW |
16 |
56,080,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7532:Impg2
|
UTSW |
16 |
56,087,543 (GRCm39) |
missense |
probably damaging |
0.96 |
R7601:Impg2
|
UTSW |
16 |
56,080,394 (GRCm39) |
missense |
probably benign |
0.22 |
R7803:Impg2
|
UTSW |
16 |
56,087,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R8063:Impg2
|
UTSW |
16 |
56,081,819 (GRCm39) |
intron |
probably benign |
|
R8251:Impg2
|
UTSW |
16 |
56,079,960 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8292:Impg2
|
UTSW |
16 |
56,080,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R8481:Impg2
|
UTSW |
16 |
56,072,629 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8524:Impg2
|
UTSW |
16 |
56,038,757 (GRCm39) |
missense |
probably benign |
0.03 |
R8782:Impg2
|
UTSW |
16 |
56,079,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R8795:Impg2
|
UTSW |
16 |
56,080,611 (GRCm39) |
missense |
probably benign |
0.25 |
R8901:Impg2
|
UTSW |
16 |
56,072,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R9243:Impg2
|
UTSW |
16 |
56,051,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R9352:Impg2
|
UTSW |
16 |
56,072,470 (GRCm39) |
missense |
probably benign |
0.00 |
R9645:Impg2
|
UTSW |
16 |
56,038,767 (GRCm39) |
missense |
probably damaging |
0.99 |
X0023:Impg2
|
UTSW |
16 |
56,080,239 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAGAGTAGATTCCACAGAAC -3'
(R):5'- TCCCTAAGGAAGAAGTTCTTGTC -3'
Sequencing Primer
(F):5'- ATCAGAACATAGATATGGAGATAGGC -3'
(R):5'- CCAAACTGTATCTGATTCTGGCAAC -3'
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Posted On |
2015-07-07 |