Incidental Mutation 'R5571:Neto2'
| ID |
435672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neto2
|
| Ensembl Gene |
ENSMUSG00000036902 |
| Gene Name |
neuropilin (NRP) and tolloid (TLL)-like 2 |
| Synonyms |
5530601C23Rik |
| MMRRC Submission |
044395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R5571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
86363217-86427553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86367173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 524
(D524N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109686]
[ENSMUST00000209479]
[ENSMUST00000216286]
|
| AlphaFold |
Q8BNJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109686
AA Change: D552N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105308
Gene: ENSMUSG00000036902
AA Change: D552N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
CUB
|
80 |
194 |
2.56e-40 |
SMART |
|
CUB
|
205 |
320 |
9.11e-5 |
SMART |
|
LDLa
|
324 |
361 |
5.73e-5 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
coiled coil region
|
432 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209259
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209479
AA Change: D517N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215046
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216286
AA Change: D524N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1135 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null mutation show normal brain morphology and kainate receptor mediated excitatory postsynaptic currents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,640 (GRCm39) |
H371L |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 80,002,382 (GRCm39) |
V1058A |
probably benign |
Het |
| Baiap2l2 |
T |
C |
15: 79,155,783 (GRCm39) |
H97R |
probably damaging |
Het |
| Bax |
A |
G |
7: 45,111,315 (GRCm39) |
S184P |
probably damaging |
Het |
| Bsph1 |
T |
G |
7: 13,184,840 (GRCm39) |
M1R |
probably null |
Het |
| Cbln2 |
A |
G |
18: 86,731,273 (GRCm39) |
D27G |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,051,572 (GRCm39) |
A28V |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
| Dhrs3 |
T |
G |
4: 144,620,134 (GRCm39) |
I17S |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,527,418 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,664,717 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,423 (GRCm39) |
E4793V |
probably damaging |
Het |
| Fbxw22 |
T |
G |
9: 109,232,156 (GRCm39) |
K80N |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,855,994 (GRCm39) |
D1927G |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,763,724 (GRCm39) |
I639V |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,383,328 (GRCm39) |
Y473C |
probably damaging |
Het |
| Foxb2 |
T |
A |
19: 16,850,131 (GRCm39) |
M292L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,605,265 (GRCm39) |
S41P |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,101,704 (GRCm39) |
|
probably null |
Het |
| Gp6 |
G |
T |
7: 4,371,899 (GRCm39) |
A302D |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,803,171 (GRCm39) |
M8K |
probably benign |
Het |
| Itpripl2 |
C |
T |
7: 118,089,092 (GRCm39) |
R489Q |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,474,760 (GRCm39) |
V175A |
possibly damaging |
Het |
| Lce1i |
C |
T |
3: 92,684,988 (GRCm39) |
G63S |
unknown |
Het |
| Lrp1b |
T |
C |
2: 41,298,354 (GRCm39) |
Q155R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,765,445 (GRCm39) |
T121A |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,129 (GRCm39) |
T114A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,877 (GRCm39) |
F117I |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,824 (GRCm39) |
I278T |
possibly damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,569 (GRCm39) |
I174L |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,110,856 (GRCm39) |
Q21* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,570,334 (GRCm39) |
T4930S |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,829,036 (GRCm39) |
C232S |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,219 (GRCm39) |
G64D |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,252,282 (GRCm39) |
M10V |
possibly damaging |
Het |
| Ssrp1 |
C |
G |
2: 84,874,669 (GRCm39) |
D496E |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,912 (GRCm39) |
S371P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,761,294 (GRCm39) |
R24W |
probably damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,039,555 (GRCm39) |
Q118R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,241,602 (GRCm39) |
G1001E |
possibly damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,348,872 (GRCm39) |
N184D |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,392,071 (GRCm39) |
W131R |
probably null |
Het |
| Ube2d2a |
A |
G |
18: 35,903,531 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,954,480 (GRCm39) |
Y1043H |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,407,975 (GRCm39) |
I2600K |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,168 (GRCm39) |
Y218C |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,106 (GRCm39) |
Y247C |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,192,463 (GRCm39) |
N699K |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,951,402 (GRCm39) |
V579A |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,682,623 (GRCm39) |
Q3354L |
unknown |
Het |
|
| Other mutations in Neto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01705:Neto2
|
APN |
8 |
86,367,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Neto2
|
APN |
8 |
86,417,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02238:Neto2
|
APN |
8 |
86,396,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02605:Neto2
|
APN |
8 |
86,390,064 (GRCm39) |
splice site |
probably benign |
|
|
IGL02813:Neto2
|
APN |
8 |
86,417,515 (GRCm39) |
missense |
probably benign |
|
|
R0138:Neto2
|
UTSW |
8 |
86,367,673 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1934:Neto2
|
UTSW |
8 |
86,397,033 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2402:Neto2
|
UTSW |
8 |
86,417,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2423:Neto2
|
UTSW |
8 |
86,396,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Neto2
|
UTSW |
8 |
86,389,924 (GRCm39) |
nonsense |
probably null |
|
|
R3822:Neto2
|
UTSW |
8 |
86,389,924 (GRCm39) |
nonsense |
probably null |
|
|
R3883:Neto2
|
UTSW |
8 |
86,389,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3939:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3940:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3941:Neto2
|
UTSW |
8 |
86,400,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Neto2
|
UTSW |
8 |
86,367,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Neto2
|
UTSW |
8 |
86,367,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Neto2
|
UTSW |
8 |
86,396,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Neto2
|
UTSW |
8 |
86,396,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5459:Neto2
|
UTSW |
8 |
86,397,112 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5471:Neto2
|
UTSW |
8 |
86,367,389 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5544:Neto2
|
UTSW |
8 |
86,374,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6083:Neto2
|
UTSW |
8 |
86,367,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6339:Neto2
|
UTSW |
8 |
86,367,187 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6381:Neto2
|
UTSW |
8 |
86,369,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Neto2
|
UTSW |
8 |
86,397,033 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6593:Neto2
|
UTSW |
8 |
86,396,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Neto2
|
UTSW |
8 |
86,389,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Neto2
|
UTSW |
8 |
86,367,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Neto2
|
UTSW |
8 |
86,397,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Neto2
|
UTSW |
8 |
86,397,020 (GRCm39) |
splice site |
probably null |
|
|
R7754:Neto2
|
UTSW |
8 |
86,396,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7755:Neto2
|
UTSW |
8 |
86,396,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Neto2
|
UTSW |
8 |
86,367,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9326:Neto2
|
UTSW |
8 |
86,369,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACAGATGATGCCTTCTTTC -3'
(R):5'- ATGATTTTGCACAACCACAGC -3'
Sequencing Primer
(F):5'- AACAGATGATGCCTTCTTTCCACTG -3'
(R):5'- GATTTTGCACAACCACAGCCAATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation