Incidental Mutation 'R0422:Cntnap3'
| ID |
37145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntnap3
|
| Ensembl Gene |
ENSMUSG00000033063 |
| Gene Name |
contactin associated protein-like 3 |
| Synonyms |
|
| MMRRC Submission |
038624-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64905099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 894
(V894A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
| AlphaFold |
E9PY62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091554
AA Change: V894A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: V894A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| 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 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
A |
7: 119,372,963 (GRCm39) |
Y155* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,887,074 (GRCm39) |
C937R |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,310,391 (GRCm39) |
D451G |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,145,384 (GRCm39) |
V63E |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,598,968 (GRCm39) |
I514T |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,354,478 (GRCm39) |
M286T |
probably damaging |
Het |
| Cdkl2 |
T |
C |
5: 92,168,171 (GRCm39) |
D341G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,526,967 (GRCm39) |
D813G |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,335,259 (GRCm39) |
Y304F |
probably benign |
Het |
| Dclre1a |
T |
A |
19: 56,532,567 (GRCm39) |
K676* |
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,307,224 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
G |
8: 106,702,750 (GRCm39) |
|
probably null |
Het |
| Efna5 |
C |
T |
17: 62,914,414 (GRCm39) |
A177T |
probably benign |
Het |
| Fabp1 |
G |
A |
6: 71,180,077 (GRCm39) |
V83I |
possibly damaging |
Het |
| H2-DMa |
G |
T |
17: 34,356,921 (GRCm39) |
G140C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,481,145 (GRCm39) |
|
probably null |
Het |
| Hyou1 |
T |
A |
9: 44,300,539 (GRCm39) |
N869K |
probably damaging |
Het |
| Ing1 |
G |
A |
8: 11,611,933 (GRCm39) |
V124I |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,134,643 (GRCm39) |
I380F |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,019,888 (GRCm39) |
I378V |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,520,662 (GRCm39) |
V1816A |
probably benign |
Het |
| Matn2 |
G |
A |
15: 34,435,917 (GRCm39) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,297,621 (GRCm39) |
S805N |
probably benign |
Het |
| Napsa |
A |
C |
7: 44,234,530 (GRCm39) |
Q254P |
probably damaging |
Het |
| Nat10 |
G |
T |
2: 103,557,074 (GRCm39) |
S860* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,381,112 (GRCm39) |
D560G |
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,912,596 (GRCm39) |
M736V |
probably benign |
Het |
| Or4k44 |
A |
T |
2: 111,368,328 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,744 (GRCm39) |
R230* |
probably null |
Het |
| Or8u8 |
A |
T |
2: 86,011,566 (GRCm39) |
D296E |
probably benign |
Het |
| Palm3 |
A |
G |
8: 84,755,492 (GRCm39) |
S335G |
possibly damaging |
Het |
| Panx1 |
G |
T |
9: 14,919,112 (GRCm39) |
S249* |
probably null |
Het |
| Parvb |
A |
G |
15: 84,179,812 (GRCm39) |
T231A |
probably benign |
Het |
| Pcdhb11 |
G |
T |
18: 37,554,923 (GRCm39) |
L84F |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,096 (GRCm39) |
*447Q |
probably null |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,783 (GRCm39) |
S125P |
probably benign |
Het |
| Prss1 |
T |
A |
6: 41,440,246 (GRCm39) |
D194E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,001,409 (GRCm39) |
C772* |
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,076,125 (GRCm39) |
F253Y |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,330,024 (GRCm39) |
E1183D |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,994,132 (GRCm39) |
T958A |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,558,038 (GRCm39) |
M480T |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,467,886 (GRCm39) |
V473E |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,515,848 (GRCm39) |
T583A |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,400 (GRCm39) |
T117A |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,725 (GRCm39) |
|
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,199 (GRCm39) |
S511P |
possibly damaging |
Het |
| Spata7 |
A |
G |
12: 98,624,524 (GRCm39) |
Y110C |
probably damaging |
Het |
| Supt16 |
T |
A |
14: 52,421,453 (GRCm39) |
I31F |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,869,172 (GRCm39) |
T70A |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,900,679 (GRCm39) |
F594L |
probably damaging |
Het |
| Unc13d |
C |
T |
11: 115,960,846 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
G |
1: 66,522,497 (GRCm39) |
V233G |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,857,781 (GRCm39) |
D735E |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,917 (GRCm39) |
T1141A |
possibly damaging |
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 |
|
|
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 |
|
R5950:Cntnap3
|
UTSW |
13 |
64,935,583 (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'- TGTCCAAgtaaagcacttgttgcaca -3'
(R):5'- GCCCCTCCTCCAACTCAGAGTC -3'
Sequencing Primer
(F):5'- gggaatggagacaggcag -3'
(R):5'- ATCTTAGACTCTGTGTGTTCACTATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation