Incidental Mutation 'R4766:Impg2'
ID |
366184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg2
|
Ensembl Gene |
ENSMUSG00000035270 |
Gene Name |
interphotoreceptor matrix proteoglycan 2 |
Synonyms |
IPM200, Spacrcan, PG10.2 |
MMRRC Submission |
042407-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R4766 (G1)
|
Quality Score |
109 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
56024676-56094119 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
TACCACCACCACCACCACCACCACCA to TACCACCACCACCACCACCACCA
at 56078302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069936]
[ENSMUST00000160116]
|
AlphaFold |
Q80XH2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069936
|
SMART Domains |
Protein: ENSMUSP00000063648 Gene: ENSMUSG00000035270
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 |
probably benign
Transcript: ENSMUST00000160116
|
SMART Domains |
Protein: ENSMUSP00000125135 Gene: ENSMUSG00000035270
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
97% (87/90) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
T |
5: 113,245,502 (GRCm39) |
V1584I |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,285,987 (GRCm39) |
D732G |
probably benign |
Het |
Agpat4 |
A |
G |
17: 12,370,637 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
C |
2: 34,985,829 (GRCm39) |
D140G |
possibly damaging |
Het |
Apol11b |
T |
A |
15: 77,519,133 (GRCm39) |
T316S |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bard1 |
T |
C |
1: 71,114,333 (GRCm39) |
E216G |
probably benign |
Het |
Bdp1 |
C |
A |
13: 100,186,376 (GRCm39) |
R1692L |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,141 (GRCm39) |
I101T |
probably damaging |
Het |
Ccdc175 |
C |
T |
12: 72,158,979 (GRCm39) |
M653I |
probably benign |
Het |
Ccdc9b |
C |
A |
2: 118,590,058 (GRCm39) |
R262L |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,530 (GRCm39) |
C215Y |
probably damaging |
Het |
Cct3 |
T |
A |
3: 88,219,092 (GRCm39) |
L241* |
probably null |
Het |
Cd2ap |
A |
T |
17: 43,163,350 (GRCm39) |
I25N |
probably damaging |
Het |
Cdh19 |
T |
C |
1: 110,820,990 (GRCm39) |
K583E |
probably benign |
Het |
Cela3a |
A |
G |
4: 137,129,986 (GRCm39) |
S212P |
unknown |
Het |
Cfap44 |
T |
A |
16: 44,236,246 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,455,473 (GRCm39) |
L440Q |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,816,663 (GRCm39) |
Y1676C |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,445,188 (GRCm39) |
D1501G |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,755,757 (GRCm39) |
L832F |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,649,825 (GRCm39) |
L867P |
probably damaging |
Het |
Erbb3 |
A |
G |
10: 128,422,107 (GRCm39) |
Y46H |
possibly damaging |
Het |
Fads3 |
T |
C |
19: 10,033,384 (GRCm39) |
I342T |
possibly damaging |
Het |
Flvcr1 |
A |
T |
1: 190,753,303 (GRCm39) |
S290T |
probably benign |
Het |
Fut9 |
A |
G |
4: 25,799,191 (GRCm39) |
|
probably benign |
Het |
Gad2 |
C |
T |
2: 22,512,679 (GRCm39) |
A2V |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm10715 |
T |
G |
9: 3,038,073 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
G |
9: 66,349,211 (GRCm39) |
D2023E |
probably benign |
Het |
Hsd3b3 |
A |
G |
3: 98,649,801 (GRCm39) |
L174P |
probably damaging |
Het |
Iqcf3 |
A |
G |
9: 106,438,148 (GRCm39) |
|
probably null |
Het |
Kcna4 |
G |
A |
2: 107,126,888 (GRCm39) |
V541M |
probably damaging |
Het |
Kcnj11 |
T |
C |
7: 45,749,240 (GRCm39) |
T28A |
probably benign |
Het |
Kcnmb2 |
T |
A |
3: 32,236,016 (GRCm39) |
N88K |
probably damaging |
Het |
Kdm2a |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
19: 4,374,535 (GRCm39) |
|
probably benign |
Het |
Krt1c |
T |
C |
15: 101,722,395 (GRCm39) |
E430G |
probably damaging |
Het |
Lins1 |
C |
T |
7: 66,360,389 (GRCm39) |
L384F |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mfge8 |
T |
C |
7: 78,784,273 (GRCm39) |
N389D |
probably damaging |
Het |
Mug1 |
C |
T |
6: 121,861,213 (GRCm39) |
T1278I |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,692,077 (GRCm39) |
M161V |
probably damaging |
Het |
Myl7 |
T |
A |
11: 5,848,171 (GRCm39) |
Y61F |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,096,706 (GRCm39) |
|
unknown |
Het |
Nol3 |
A |
G |
8: 106,008,565 (GRCm39) |
|
probably null |
Het |
Nup85 |
T |
A |
11: 115,468,751 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,903,568 (GRCm39) |
T7619S |
probably damaging |
Het |
Or2t49 |
T |
A |
11: 58,392,494 (GRCm39) |
N296I |
probably damaging |
Het |
Or4k48 |
T |
C |
2: 111,476,226 (GRCm39) |
M39V |
probably benign |
Het |
Or52a24 |
C |
T |
7: 103,381,457 (GRCm39) |
T108I |
possibly damaging |
Het |
Or7g26 |
G |
A |
9: 19,230,141 (GRCm39) |
V104I |
probably benign |
Het |
Pax5 |
T |
A |
4: 44,679,494 (GRCm39) |
I184F |
probably damaging |
Het |
Pcdha7 |
T |
A |
18: 37,107,560 (GRCm39) |
V195D |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,853,020 (GRCm39) |
|
probably benign |
Het |
Pla2g15 |
G |
T |
8: 106,889,703 (GRCm39) |
G325V |
probably damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,880,043 (GRCm39) |
F487L |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,157,016 (GRCm39) |
I965V |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,548,275 (GRCm39) |
V74A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,988,946 (GRCm39) |
Y780N |
probably damaging |
Het |
Rps25 |
T |
A |
9: 44,320,046 (GRCm39) |
Y23N |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,785,258 (GRCm39) |
D1811G |
probably damaging |
Het |
Scamp5 |
T |
G |
9: 57,359,319 (GRCm39) |
|
probably null |
Het |
Senp1 |
T |
C |
15: 97,943,777 (GRCm39) |
D602G |
probably damaging |
Het |
Sh2b2 |
T |
G |
5: 136,260,811 (GRCm39) |
D135A |
probably damaging |
Het |
Slc26a8 |
G |
A |
17: 28,857,635 (GRCm39) |
T836M |
probably benign |
Het |
Slfn4 |
T |
G |
11: 83,077,647 (GRCm39) |
I145S |
possibly damaging |
Het |
Spag6l |
G |
A |
16: 16,595,254 (GRCm39) |
T377I |
probably benign |
Het |
Spdye4b |
T |
C |
5: 143,182,089 (GRCm39) |
F129S |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,447,514 (GRCm39) |
G2360E |
probably benign |
Het |
Taar2 |
A |
T |
10: 23,816,669 (GRCm39) |
I70F |
probably damaging |
Het |
Taar7e |
A |
G |
10: 23,914,464 (GRCm39) |
N318S |
probably damaging |
Het |
Tor1a |
C |
A |
2: 30,857,742 (GRCm39) |
R42L |
probably benign |
Het |
Trdn |
A |
T |
10: 33,350,502 (GRCm39) |
Q690H |
probably benign |
Het |
Trim56 |
C |
A |
5: 137,141,579 (GRCm39) |
V646L |
probably benign |
Het |
Tspan15 |
T |
A |
10: 62,027,323 (GRCm39) |
K165I |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,273,245 (GRCm39) |
Y2210C |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,797,307 (GRCm39) |
T76A |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,785,506 (GRCm39) |
|
probably null |
Het |
Zfp512b |
T |
C |
2: 181,226,888 (GRCm39) |
|
probably benign |
Het |
Zyx |
C |
A |
6: 42,333,093 (GRCm39) |
|
probably null |
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 |
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 |
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'- GATTCCAGAACTCTTGCTTCAAG -3'
(R):5'- TGAAGAGTCAAGCTGCTACCC -3'
Sequencing Primer
(F):5'- AGGTCTCCCCTTCAGAAATGC -3'
(R):5'- GCTACCCCCTAAAATCTCTGGGAG -3'
|
Posted On |
2015-12-21 |