Incidental Mutation 'R5950:Cntnap3'
| ID |
472404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
044140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5950 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64935583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 427
(L427F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: L427F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: L427F
| 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 |
|
| Meta Mutation Damage Score |
0.4350 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
93% (75/81) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
A |
7: 119,981,879 (GRCm39) |
G1065R |
probably damaging |
Het |
| Acox2 |
A |
T |
14: 8,255,793 (GRCm38) |
Y113N |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,365,849 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
C |
T |
1: 170,662,448 (GRCm39) |
G271R |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,124,729 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Cct8l1 |
C |
A |
5: 25,722,741 (GRCm39) |
F485L |
probably benign |
Het |
| Cdk5r2 |
A |
G |
1: 74,894,561 (GRCm39) |
E102G |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,916,701 (GRCm39) |
V424E |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,089,587 (GRCm39) |
T271A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,300,210 (GRCm39) |
I1738T |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,313,934 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
A |
G |
1: 86,948,830 (GRCm39) |
D589G |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,484,401 (GRCm39) |
R10G |
probably damaging |
Het |
| Dnajc1 |
A |
C |
2: 18,311,752 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,430 (GRCm39) |
T723S |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,671,586 (GRCm39) |
N764Y |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,301,141 (GRCm39) |
R3654L |
probably damaging |
Het |
| Dynlt5 |
T |
G |
4: 102,861,447 (GRCm39) |
L147R |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,641,812 (GRCm39) |
T198I |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,574,639 (GRCm39) |
|
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
| Igsf5 |
T |
C |
16: 96,174,072 (GRCm39) |
V34A |
probably benign |
Het |
| Ikzf2 |
A |
T |
1: 69,722,403 (GRCm39) |
N41K |
probably damaging |
Het |
| Kif6 |
G |
T |
17: 50,022,116 (GRCm39) |
A339S |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,790 (GRCm39) |
D426V |
probably damaging |
Het |
| Knop1 |
A |
C |
7: 118,452,557 (GRCm39) |
V54G |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,906,444 (GRCm39) |
V270D |
probably benign |
Het |
| Lnx2 |
A |
G |
5: 146,961,160 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
A |
T |
19: 3,652,333 (GRCm39) |
V1179E |
probably benign |
Het |
| Lrpprc |
T |
G |
17: 85,047,598 (GRCm39) |
D878A |
possibly damaging |
Het |
| Lrrc14 |
A |
T |
15: 76,599,510 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,580,865 (GRCm39) |
D660V |
probably damaging |
Het |
| Macf1 |
C |
G |
4: 123,333,229 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
C |
A |
8: 126,668,499 (GRCm39) |
T695K |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,324,253 (GRCm39) |
D895E |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,412 (GRCm39) |
D779E |
possibly damaging |
Het |
| Mkrn3 |
T |
C |
7: 62,069,467 (GRCm39) |
E108G |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,019,644 (GRCm39) |
|
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,643,556 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,633 (GRCm39) |
V299A |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,255,690 (GRCm39) |
Y572N |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,717,186 (GRCm39) |
M1599R |
possibly damaging |
Het |
| Pitx2 |
A |
G |
3: 129,012,169 (GRCm39) |
S180G |
probably damaging |
Het |
| Pkd2l1 |
A |
C |
19: 44,140,529 (GRCm39) |
V608G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,361 (GRCm39) |
D1961G |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,721,179 (GRCm39) |
T109A |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,419 (GRCm39) |
C828S |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,785,050 (GRCm39) |
T737S |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,640,190 (GRCm39) |
V235A |
probably damaging |
Het |
| Sfxn1 |
A |
T |
13: 54,245,306 (GRCm39) |
T134S |
probably benign |
Het |
| Skint1 |
A |
G |
4: 111,876,532 (GRCm39) |
Y151C |
probably benign |
Het |
| Slc11a1 |
G |
T |
1: 74,416,335 (GRCm39) |
W54L |
probably benign |
Het |
| Slc49a3 |
A |
T |
5: 108,593,351 (GRCm39) |
H162Q |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,716,003 (GRCm39) |
Q191L |
probably benign |
Het |
| Tank |
A |
G |
2: 61,483,913 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,215,117 (GRCm39) |
|
probably null |
Het |
| Trdc |
T |
C |
14: 54,381,768 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,697,787 (GRCm39) |
I63V |
probably null |
Het |
| Ust |
T |
C |
10: 8,123,865 (GRCm39) |
H257R |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,472,652 (GRCm39) |
Q23R |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,423,179 (GRCm39) |
H481L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,341,664 (GRCm39) |
T1302A |
possibly damaging |
Het |
| Zc3h6 |
C |
A |
2: 128,839,710 (GRCm39) |
Y174* |
probably null |
Het |
| Zcchc7 |
T |
G |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,481 (GRCm39) |
H185Q |
possibly damaging |
Het |
| Zfp523 |
C |
A |
17: 28,421,532 (GRCm39) |
P66H |
probably benign |
Het |
| Zfp712 |
A |
T |
13: 67,192,881 (GRCm39) |
L57Q |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,498 (GRCm39) |
Q200* |
probably null |
Het |
|
| Other mutations in Cntnap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Cntnap3
|
APN |
13 |
64,920,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00782:Cntnap3
|
APN |
13 |
64,893,619 (GRCm39) |
splice site |
probably benign |
|
|
IGL00976:Cntnap3
|
APN |
13 |
64,942,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01319:Cntnap3
|
APN |
13 |
64,935,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Cntnap3
|
APN |
13 |
64,905,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01861:Cntnap3
|
APN |
13 |
64,946,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Cntnap3
|
APN |
13 |
64,946,878 (GRCm39) |
splice site |
probably benign |
|
|
IGL02133:Cntnap3
|
APN |
13 |
64,899,487 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Cntnap3
|
APN |
13 |
64,909,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Cntnap3
|
APN |
13 |
64,905,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02370:Cntnap3
|
APN |
13 |
64,899,565 (GRCm39) |
missense |
probably benign |
|
|
IGL02456:Cntnap3
|
APN |
13 |
64,946,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL02589:Cntnap3
|
APN |
13 |
64,940,244 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02695:Cntnap3
|
APN |
13 |
64,919,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02850:Cntnap3
|
APN |
13 |
64,905,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Cntnap3
|
APN |
13 |
64,888,839 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03188:Cntnap3
|
APN |
13 |
64,929,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03327:Cntnap3
|
APN |
13 |
65,035,582 (GRCm39) |
nonsense |
probably null |
|
|
PIT4480001:Cntnap3
|
UTSW |
13 |
64,905,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Cntnap3
|
UTSW |
13 |
64,905,250 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Cntnap3
|
UTSW |
13 |
64,905,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0463:Cntnap3
|
UTSW |
13 |
64,926,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Cntnap3
|
UTSW |
13 |
64,909,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0499:Cntnap3
|
UTSW |
13 |
65,006,492 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0550:Cntnap3
|
UTSW |
13 |
64,909,814 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0613:Cntnap3
|
UTSW |
13 |
64,906,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Cntnap3
|
UTSW |
13 |
64,905,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Cntnap3
|
UTSW |
13 |
64,935,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1577:Cntnap3
|
UTSW |
13 |
64,906,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Cntnap3
|
UTSW |
13 |
64,909,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Cntnap3
|
UTSW |
13 |
64,888,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1739:Cntnap3
|
UTSW |
13 |
64,888,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1905:Cntnap3
|
UTSW |
13 |
65,051,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1988:Cntnap3
|
UTSW |
13 |
64,906,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Cntnap3
|
UTSW |
13 |
64,942,076 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3732:Cntnap3
|
UTSW |
13 |
64,888,813 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3808:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3809:Cntnap3
|
UTSW |
13 |
64,929,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4384:Cntnap3
|
UTSW |
13 |
64,896,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Cntnap3
|
UTSW |
13 |
64,926,667 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4631:Cntnap3
|
UTSW |
13 |
64,926,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4645:Cntnap3
|
UTSW |
13 |
64,926,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4702:Cntnap3
|
UTSW |
13 |
64,926,676 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4876:Cntnap3
|
UTSW |
13 |
64,935,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Cntnap3
|
UTSW |
13 |
64,909,798 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5043:Cntnap3
|
UTSW |
13 |
64,942,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Cntnap3
|
UTSW |
13 |
64,909,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Cntnap3
|
UTSW |
13 |
64,909,792 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5571:Cntnap3
|
UTSW |
13 |
65,051,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5587:Cntnap3
|
UTSW |
13 |
64,894,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Cntnap3
|
UTSW |
13 |
64,935,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5834:Cntnap3
|
UTSW |
13 |
64,896,391 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5892:Cntnap3
|
UTSW |
13 |
64,946,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Cntnap3
|
UTSW |
13 |
64,929,702 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6954:Cntnap3
|
UTSW |
13 |
64,896,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7138:Cntnap3
|
UTSW |
13 |
64,929,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7355:Cntnap3
|
UTSW |
13 |
64,919,776 (GRCm39) |
missense |
probably benign |
|
|
R7425:Cntnap3
|
UTSW |
13 |
64,906,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Cntnap3
|
UTSW |
13 |
64,919,815 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7719:Cntnap3
|
UTSW |
13 |
64,920,591 (GRCm39) |
nonsense |
probably null |
|
|
R7810:Cntnap3
|
UTSW |
13 |
64,941,122 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7871:Cntnap3
|
UTSW |
13 |
65,051,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Cntnap3
|
UTSW |
13 |
64,935,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8415:Cntnap3
|
UTSW |
13 |
64,886,479 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8491:Cntnap3
|
UTSW |
13 |
64,933,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Cntnap3
|
UTSW |
13 |
64,929,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Cntnap3
|
UTSW |
13 |
64,899,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9398:Cntnap3
|
UTSW |
13 |
65,051,648 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9475:Cntnap3
|
UTSW |
13 |
64,946,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Cntnap3
|
UTSW |
13 |
65,006,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Cntnap3
|
UTSW |
13 |
64,899,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,940,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Cntnap3
|
UTSW |
13 |
64,888,686 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Cntnap3
|
UTSW |
13 |
64,929,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAGATCAAACCCATGTCTTC -3'
(R):5'- ACTACAAGGCTCTTTACCTGTG -3'
Sequencing Primer
(F):5'- GAGATCAAACCCATGTCTTCAAAAAG -3'
(R):5'- GTGTCCTTCACATGCCCACAAC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation