Incidental Mutation 'R1827:Impg2'
| ID |
206959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg2
|
| Ensembl Gene |
ENSMUSG00000035270 |
| Gene Name |
interphotoreceptor matrix proteoglycan 2 |
| Synonyms |
IPM200, Spacrcan, PG10.2 |
| MMRRC Submission |
039854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56087583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1134
(N1134I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
| AlphaFold |
Q80XH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069936
AA Change: N1134I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063648
Gene: ENSMUSG00000035270
AA Change: N1134I
| 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 |
noncoding transcript
Transcript: ENSMUST00000159842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160116
AA Change: N1025I
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125135
Gene: ENSMUSG00000035270
AA Change: N1025I
| 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 |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.6%
|
| Validation Efficiency |
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
G |
C |
7: 131,043,004 (GRCm39) |
R355T |
probably damaging |
Het |
| Ackr2 |
C |
T |
9: 121,738,581 (GRCm39) |
R319C |
probably benign |
Het |
| Acot4 |
G |
A |
12: 84,088,712 (GRCm39) |
A187T |
probably damaging |
Het |
| Adgrb2 |
A |
C |
4: 129,906,350 (GRCm39) |
Q926P |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,571,658 (GRCm39) |
T420A |
probably damaging |
Het |
| Adra1b |
A |
T |
11: 43,726,476 (GRCm39) |
V147E |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,832,498 (GRCm39) |
Y98C |
probably damaging |
Het |
| Car5a |
C |
T |
8: 122,650,547 (GRCm39) |
V166M |
probably benign |
Het |
| Cdh5 |
T |
C |
8: 104,839,541 (GRCm39) |
L4P |
possibly damaging |
Het |
| Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,210,956 (GRCm39) |
T3279I |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,517,709 (GRCm39) |
G105D |
unknown |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,295 (GRCm39) |
H481Q |
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,327,422 (GRCm39) |
C307* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,740,887 (GRCm39) |
Y4100H |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,508,009 (GRCm39) |
N1647S |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,352,238 (GRCm39) |
E763G |
probably benign |
Het |
| Fbh1 |
G |
T |
2: 11,768,699 (GRCm39) |
D332E |
possibly damaging |
Het |
| Fndc8 |
G |
A |
11: 82,790,355 (GRCm39) |
V275M |
probably damaging |
Het |
| Focad |
T |
G |
4: 88,147,620 (GRCm39) |
Y420D |
probably benign |
Het |
| Gml |
A |
T |
15: 74,688,280 (GRCm39) |
H62Q |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,832,129 (GRCm39) |
L1076F |
probably benign |
Het |
| Gpr161 |
A |
G |
1: 165,134,136 (GRCm39) |
T133A |
possibly damaging |
Het |
| Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
| Gsg1l |
A |
T |
7: 125,509,369 (GRCm39) |
I256K |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
| Hnf1a |
G |
A |
5: 115,098,254 (GRCm39) |
A116V |
probably damaging |
Het |
| Hrh4 |
A |
T |
18: 13,155,261 (GRCm39) |
T267S |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,099,278 (GRCm39) |
N123I |
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,128,545 (GRCm39) |
T91S |
probably benign |
Het |
| Incenp |
A |
G |
19: 9,850,093 (GRCm39) |
V860A |
possibly damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,672 (GRCm39) |
H461L |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,761 (GRCm39) |
S86P |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,428,301 (GRCm39) |
M176L |
possibly damaging |
Het |
| Mccc1 |
A |
T |
3: 36,039,150 (GRCm39) |
I281N |
probably damaging |
Het |
| Mms19 |
G |
A |
19: 41,942,116 (GRCm39) |
A584V |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,882,216 (GRCm39) |
D184E |
probably damaging |
Het |
| Mrpl1 |
T |
C |
5: 96,374,202 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mtrex |
C |
A |
13: 113,049,633 (GRCm39) |
|
probably null |
Het |
| Myo18a |
C |
T |
11: 77,709,597 (GRCm39) |
T190I |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,725,938 (GRCm39) |
M1038K |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,852 (GRCm39) |
I304F |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,314 (GRCm39) |
R705* |
probably null |
Het |
| Nfat5 |
T |
C |
8: 108,093,966 (GRCm39) |
S736P |
probably benign |
Het |
| Nlrp4c |
C |
T |
7: 6,068,765 (GRCm39) |
P222L |
probably damaging |
Het |
| Nmt1 |
T |
A |
11: 102,955,664 (GRCm39) |
W481R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 77,897,049 (GRCm39) |
I663L |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,061,864 (GRCm39) |
E681V |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
| Or56b1b |
A |
T |
7: 108,164,282 (GRCm39) |
V240D |
probably benign |
Het |
| Pald1 |
ATGCTGCTGCTGCTGC |
ATGCTGCTGCTGC |
10: 61,191,701 (GRCm39) |
|
probably benign |
Het |
| Ppm1e |
T |
C |
11: 87,122,521 (GRCm39) |
T479A |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,288,518 (GRCm39) |
E298G |
probably benign |
Het |
| Pramel29 |
G |
A |
4: 143,936,180 (GRCm39) |
P27S |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,616 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
G |
7: 127,532,664 (GRCm39) |
V718A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
| Rrp12 |
G |
C |
19: 41,868,920 (GRCm39) |
D519E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,173,279 (GRCm39) |
L415P |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,765,706 (GRCm39) |
D335E |
probably benign |
Het |
| S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,922 (GRCm39) |
R625G |
possibly damaging |
Het |
| Simc1 |
T |
A |
13: 54,672,452 (GRCm39) |
C267S |
probably benign |
Het |
| Slc28a1 |
T |
C |
7: 80,787,950 (GRCm39) |
V279A |
possibly damaging |
Het |
| Slc30a8 |
T |
A |
15: 52,194,953 (GRCm39) |
|
probably null |
Het |
| Slco6d1 |
A |
G |
1: 98,348,941 (GRCm39) |
D4G |
probably damaging |
Het |
| Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
A |
7: 63,884,755 (GRCm39) |
R812H |
probably damaging |
Het |
| Tsga10 |
T |
A |
1: 37,874,661 (GRCm39) |
I75F |
probably damaging |
Het |
| Tyms |
C |
T |
5: 30,267,014 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,153,008 (GRCm39) |
|
probably null |
Het |
| Unc45a |
A |
G |
7: 79,981,488 (GRCm39) |
V438A |
possibly damaging |
Het |
| Usf2 |
T |
C |
7: 30,654,765 (GRCm39) |
D110G |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,853,875 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,497 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,199,938 (GRCm39) |
H505R |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,821 (GRCm39) |
A236T |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,235,155 (GRCm39) |
M608T |
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,824,385 (GRCm39) |
F116L |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,476,768 (GRCm39) |
T487A |
possibly damaging |
Het |
| Zfpl1 |
A |
C |
19: 6,131,901 (GRCm39) |
L241R |
probably benign |
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 |
|
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 |
|
R4424:Impg2
|
UTSW |
16 |
56,080,388 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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'- CCCATTTCACTGAAGATTCCGC -3'
(R):5'- CTAAATTTTCAAGGCTCCCTGC -3'
Sequencing Primer
(F):5'- GCAATGTGATGCCTATTTTTACAG -3'
(R):5'- TGCCAAACCTAGTTCAATATTCATCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation