Incidental Mutation 'IGL02850:Cntnap3'
| ID |
361850 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02850
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
64736182-64903955 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64757409 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 853
(T853A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: T853A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T853A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
FA58C
|
33 |
180 |
4.88e-17 |
SMART |
|
LamG
|
207 |
345 |
1.47e-11 |
SMART |
|
LamG
|
394 |
525 |
1.43e-23 |
SMART |
|
EGF
|
553 |
587 |
1.33e-1 |
SMART |
|
FBG
|
590 |
775 |
6.76e-1 |
SMART |
|
LamG
|
815 |
942 |
1.89e-32 |
SMART |
|
EGF_like
|
963 |
999 |
6.28e1 |
SMART |
|
LamG
|
1040 |
1178 |
9.46e-15 |
SMART |
|
transmembrane domain
|
1245 |
1267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222618
|
| Coding Region Coverage |
|
| 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 belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
G |
5: 129,115,055 (GRCm38) |
D63G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 9,002,596 (GRCm38) |
T415A |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,004,078 (GRCm38) |
V178A |
probably damaging |
Het |
| Ap1s1 |
A |
G |
5: 137,041,780 (GRCm38) |
Y127H |
possibly damaging |
Het |
| Bbs2 |
A |
T |
8: 94,077,082 (GRCm38) |
M510K |
probably benign |
Het |
| C130079G13Rik |
A |
G |
3: 59,936,572 (GRCm38) |
Y229C |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,535,170 (GRCm38) |
N591S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 161,019,616 (GRCm38) |
R504* |
probably null |
Het |
| Cnpy3 |
A |
G |
17: 46,743,291 (GRCm38) |
|
probably benign |
Het |
| Cntn2 |
T |
G |
1: 132,518,376 (GRCm38) |
K824T |
probably benign |
Het |
| Cog4 |
G |
A |
8: 110,866,589 (GRCm38) |
G444D |
possibly damaging |
Het |
| Col18a1 |
A |
T |
10: 77,096,466 (GRCm38) |
I510N |
probably damaging |
Het |
| Cxcr5 |
G |
A |
9: 44,514,106 (GRCm38) |
R85W |
probably damaging |
Het |
| Cyth3 |
C |
A |
5: 143,686,504 (GRCm38) |
T58K |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,279,536 (GRCm38) |
V102A |
probably damaging |
Het |
| Dmbx1 |
G |
A |
4: 115,918,007 (GRCm38) |
R359C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,778,175 (GRCm38) |
P3746Q |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,644,345 (GRCm38) |
M32K |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,432,572 (GRCm38) |
N31S |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,875,304 (GRCm38) |
S123P |
probably benign |
Het |
| Izumo2 |
T |
C |
7: 44,708,915 (GRCm38) |
L58S |
probably damaging |
Het |
| Izumo4 |
A |
G |
10: 80,704,198 (GRCm38) |
|
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,787,685 (GRCm38) |
K487* |
probably null |
Het |
| Lrp12 |
T |
C |
15: 39,878,575 (GRCm38) |
Y248C |
probably damaging |
Het |
| Map3k4 |
T |
C |
17: 12,271,914 (GRCm38) |
D210G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,754,232 (GRCm38) |
D1038G |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,294,491 (GRCm38) |
T651A |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,144,070 (GRCm38) |
G605V |
probably benign |
Het |
| Nop2 |
A |
C |
6: 125,144,085 (GRCm38) |
K610T |
possibly damaging |
Het |
| Npvf |
G |
A |
6: 50,652,690 (GRCm38) |
R107W |
probably benign |
Het |
| Oit1 |
C |
T |
14: 8,361,475 (GRCm38) |
|
probably null |
Het |
| Olfr286 |
A |
G |
15: 98,227,351 (GRCm38) |
V98A |
probably benign |
Het |
| Olfr92 |
T |
C |
17: 37,111,973 (GRCm38) |
N3S |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,854,933 (GRCm38) |
T775A |
probably damaging |
Het |
| P2ry13 |
C |
T |
3: 59,209,608 (GRCm38) |
A250T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,458,865 (GRCm38) |
V127E |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,020,633 (GRCm38) |
S2547F |
probably benign |
Het |
| Pinx1 |
A |
G |
14: 63,919,160 (GRCm38) |
T179A |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,658,451 (GRCm38) |
V322A |
possibly damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,502,069 (GRCm38) |
R476S |
probably benign |
Het |
| Polb |
A |
G |
8: 22,648,261 (GRCm38) |
|
probably benign |
Het |
| Polg2 |
C |
T |
11: 106,768,467 (GRCm38) |
D407N |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,025,059 (GRCm38) |
R40Q |
probably benign |
Het |
| Sctr |
T |
A |
1: 120,022,179 (GRCm38) |
C33S |
probably damaging |
Het |
| Sctr |
T |
C |
1: 120,044,663 (GRCm38) |
M193T |
possibly damaging |
Het |
| Sema5b |
T |
C |
16: 35,660,515 (GRCm38) |
S819P |
probably benign |
Het |
| Setd1b |
C |
T |
5: 123,148,589 (GRCm38) |
T566I |
unknown |
Het |
| Sptbn4 |
G |
A |
7: 27,426,833 (GRCm38) |
R222C |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,003,458 (GRCm38) |
V129A |
possibly damaging |
Het |
| Tmem163 |
C |
T |
1: 127,500,247 (GRCm38) |
V201I |
probably benign |
Het |
| Tmem57 |
T |
C |
4: 134,828,386 (GRCm38) |
K259E |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,406,249 (GRCm38) |
L569P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,773,292 (GRCm38) |
E301G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,937,862 (GRCm38) |
I1660V |
probably benign |
Het |
| Zbtb22 |
T |
A |
17: 33,917,013 (GRCm38) |
L44Q |
probably damaging |
Het |
| Zfp691 |
T |
C |
4: 119,170,192 (GRCm38) |
D281G |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm38) |
H213L |
probably benign |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm38) |
G580D |
probably benign |
Het |
|
| Other mutations in Cntnap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cntnap3
|
APN |
13 |
64,772,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00782:Cntnap3
|
APN |
13 |
64,745,805 (GRCm38) |
splice site |
probably benign |
|
|
IGL00976:Cntnap3
|
APN |
13 |
64,794,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01319:Cntnap3
|
APN |
13 |
64,787,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01610:Cntnap3
|
APN |
13 |
64,757,301 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01861:Cntnap3
|
APN |
13 |
64,799,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02127:Cntnap3
|
APN |
13 |
64,799,064 (GRCm38) |
splice site |
probably benign |
|
|
IGL02133:Cntnap3
|
APN |
13 |
64,751,673 (GRCm38) |
splice site |
probably benign |
|
|
IGL02251:Cntnap3
|
APN |
13 |
64,762,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Cntnap3
|
APN |
13 |
64,757,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02370:Cntnap3
|
APN |
13 |
64,751,751 (GRCm38) |
missense |
probably benign |
|
|
IGL02456:Cntnap3
|
APN |
13 |
64,799,058 (GRCm38) |
splice site |
probably benign |
|
|
IGL02589:Cntnap3
|
APN |
13 |
64,792,430 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02695:Cntnap3
|
APN |
13 |
64,772,132 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03038:Cntnap3
|
APN |
13 |
64,741,025 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL03188:Cntnap3
|
APN |
13 |
64,781,745 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03327:Cntnap3
|
APN |
13 |
64,887,768 (GRCm38) |
nonsense |
probably null |
|
|
PIT4480001:Cntnap3
|
UTSW |
13 |
64,757,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0309:Cntnap3
|
UTSW |
13 |
64,757,436 (GRCm38) |
splice site |
probably benign |
|
|
R0422:Cntnap3
|
UTSW |
13 |
64,757,285 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0463:Cntnap3
|
UTSW |
13 |
64,778,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0491:Cntnap3
|
UTSW |
13 |
64,762,045 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0499:Cntnap3
|
UTSW |
13 |
64,858,678 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0550:Cntnap3
|
UTSW |
13 |
64,762,000 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0613:Cntnap3
|
UTSW |
13 |
64,758,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0666:Cntnap3
|
UTSW |
13 |
64,757,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0840:Cntnap3
|
UTSW |
13 |
64,787,910 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1577:Cntnap3
|
UTSW |
13 |
64,758,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1716:Cntnap3
|
UTSW |
13 |
64,762,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1732:Cntnap3
|
UTSW |
13 |
64,740,812 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1739:Cntnap3
|
UTSW |
13 |
64,740,592 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1905:Cntnap3
|
UTSW |
13 |
64,903,764 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1988:Cntnap3
|
UTSW |
13 |
64,758,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2086:Cntnap3
|
UTSW |
13 |
64,794,262 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3732:Cntnap3
|
UTSW |
13 |
64,740,999 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R3808:Cntnap3
|
UTSW |
13 |
64,781,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3809:Cntnap3
|
UTSW |
13 |
64,781,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4384:Cntnap3
|
UTSW |
13 |
64,748,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4433:Cntnap3
|
UTSW |
13 |
64,778,853 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4631:Cntnap3
|
UTSW |
13 |
64,778,883 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4645:Cntnap3
|
UTSW |
13 |
64,778,788 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4702:Cntnap3
|
UTSW |
13 |
64,778,862 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4876:Cntnap3
|
UTSW |
13 |
64,787,706 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4994:Cntnap3
|
UTSW |
13 |
64,761,984 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R5043:Cntnap3
|
UTSW |
13 |
64,794,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5214:Cntnap3
|
UTSW |
13 |
64,762,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5403:Cntnap3
|
UTSW |
13 |
64,761,978 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5571:Cntnap3
|
UTSW |
13 |
64,903,758 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5587:Cntnap3
|
UTSW |
13 |
64,746,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5695:Cntnap3
|
UTSW |
13 |
64,787,955 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5834:Cntnap3
|
UTSW |
13 |
64,748,577 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5892:Cntnap3
|
UTSW |
13 |
64,799,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5950:Cntnap3
|
UTSW |
13 |
64,787,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6526:Cntnap3
|
UTSW |
13 |
64,781,888 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R6954:Cntnap3
|
UTSW |
13 |
64,748,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7138:Cntnap3
|
UTSW |
13 |
64,781,725 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7355:Cntnap3
|
UTSW |
13 |
64,771,962 (GRCm38) |
missense |
probably benign |
|
|
R7425:Cntnap3
|
UTSW |
13 |
64,758,252 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Cntnap3
|
UTSW |
13 |
64,772,001 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7719:Cntnap3
|
UTSW |
13 |
64,772,777 (GRCm38) |
nonsense |
probably null |
|
|
R7810:Cntnap3
|
UTSW |
13 |
64,793,308 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7871:Cntnap3
|
UTSW |
13 |
64,903,773 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8259:Cntnap3
|
UTSW |
13 |
64,787,867 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8415:Cntnap3
|
UTSW |
13 |
64,738,665 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8491:Cntnap3
|
UTSW |
13 |
64,785,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9086:Cntnap3
|
UTSW |
13 |
64,781,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9087:Cntnap3
|
UTSW |
13 |
64,751,718 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9398:Cntnap3
|
UTSW |
13 |
64,903,834 (GRCm38) |
missense |
probably benign |
0.41 |
|
R9475:Cntnap3
|
UTSW |
13 |
64,799,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9625:Cntnap3
|
UTSW |
13 |
64,858,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9679:Cntnap3
|
UTSW |
13 |
64,751,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,792,388 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,740,872 (GRCm38) |
frame shift |
probably null |
|
|
Z1177:Cntnap3
|
UTSW |
13 |
64,781,892 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation