Incidental Mutation 'R7871:Cntnap3'
ID |
608129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntnap3
|
Ensembl Gene |
ENSMUSG00000033063 |
Gene Name |
contactin associated protein-like 3 |
Synonyms |
|
MMRRC Submission |
045923-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R7871 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
64883996-65051769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 65051587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 23
(L23R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091554]
|
AlphaFold |
E9PY62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091554
AA Change: L23R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000089140 Gene: ENSMUSG00000033063 AA Change: L23R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (64/66) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
G |
5: 113,331,092 (GRCm39) |
S1041P |
probably benign |
Het |
Aatf |
ACACACACACACACACACACACACACACACACACACACACACACACACAC |
ACACACACACACACACACACACACACACACACACACACACACACACACACAC |
11: 84,361,864 (GRCm39) |
|
probably null |
Het |
Arpin |
A |
T |
7: 79,577,463 (GRCm39) |
W195R |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,963,925 (GRCm39) |
V1091A |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,657,281 (GRCm39) |
T1764A |
not run |
Het |
Bmp7 |
C |
A |
2: 172,781,784 (GRCm39) |
A27S |
probably benign |
Het |
Ccnh |
T |
A |
13: 85,359,991 (GRCm39) |
Y297* |
probably null |
Het |
Ccno |
C |
A |
13: 113,124,647 (GRCm39) |
D72E |
probably benign |
Het |
Cd70 |
T |
G |
17: 57,455,770 (GRCm39) |
T67P |
probably damaging |
Het |
Chml |
CTGTTTG |
CTG |
1: 175,514,966 (GRCm39) |
|
probably null |
Het |
Chst4 |
A |
G |
8: 110,757,545 (GRCm39) |
F106S |
probably damaging |
Het |
Crybg2 |
T |
A |
4: 133,814,910 (GRCm39) |
L1288H |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,777,591 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
T |
C |
11: 46,133,177 (GRCm39) |
H841R |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
Cyp4f18 |
G |
A |
8: 72,742,487 (GRCm39) |
P498S |
possibly damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,566,775 (GRCm39) |
I97F |
|
Het |
Entpd3 |
A |
G |
9: 120,389,652 (GRCm39) |
R313G |
possibly damaging |
Het |
Erg28 |
G |
A |
12: 85,866,253 (GRCm39) |
T75I |
probably damaging |
Het |
Fam171a1 |
A |
G |
2: 3,226,421 (GRCm39) |
H518R |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Galntl6 |
T |
C |
8: 58,290,222 (GRCm39) |
E457G |
probably damaging |
Het |
Glt8d1 |
A |
T |
14: 30,732,296 (GRCm39) |
H192L |
probably damaging |
Het |
Gm15446 |
T |
A |
5: 110,091,165 (GRCm39) |
C472* |
probably null |
Het |
Gm28363 |
A |
T |
1: 117,625,228 (GRCm39) |
M1L |
unknown |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gstp3 |
T |
A |
19: 4,108,746 (GRCm39) |
K45* |
probably null |
Het |
Hsd17b13 |
A |
G |
5: 104,113,681 (GRCm39) |
F258L |
possibly damaging |
Het |
Htt |
T |
C |
5: 35,021,993 (GRCm39) |
S1646P |
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,028,976 (GRCm39) |
M326V |
probably benign |
Het |
Itpr3 |
T |
A |
17: 27,336,153 (GRCm39) |
I2293N |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,448,750 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
A |
5: 123,922,290 (GRCm39) |
L963H |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,810,637 (GRCm39) |
L769* |
probably null |
Het |
Map3k13 |
A |
G |
16: 21,740,346 (GRCm39) |
S558G |
probably benign |
Het |
Mbd1 |
G |
A |
18: 74,407,128 (GRCm39) |
|
probably null |
Het |
Mep1a |
T |
C |
17: 43,790,126 (GRCm39) |
N408D |
probably benign |
Het |
Mtrf1 |
A |
G |
14: 79,644,378 (GRCm39) |
T229A |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,754,935 (GRCm38) |
S1603L |
unknown |
Het |
Myo1b |
A |
C |
1: 51,818,739 (GRCm39) |
I512S |
possibly damaging |
Het |
N4bp2 |
A |
G |
5: 65,964,446 (GRCm39) |
I832V |
probably benign |
Het |
Nadsyn1 |
T |
A |
7: 143,352,233 (GRCm39) |
K618* |
probably null |
Het |
Ncstn |
T |
C |
1: 171,903,023 (GRCm39) |
D87G |
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,794,012 (GRCm39) |
V156A |
probably benign |
Het |
Nfasc |
C |
A |
1: 132,527,751 (GRCm39) |
G885V |
not run |
Het |
Nox4 |
A |
T |
7: 86,963,335 (GRCm39) |
Y180F |
possibly damaging |
Het |
Nuggc |
A |
G |
14: 65,860,700 (GRCm39) |
T449A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,281 (GRCm39) |
I95V |
probably benign |
Het |
Pik3r4 |
T |
C |
9: 105,540,316 (GRCm39) |
S735P |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,892,735 (GRCm39) |
I645T |
probably damaging |
Het |
Rras2 |
G |
A |
7: 113,716,783 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
T |
C |
2: 180,962,822 (GRCm39) |
M25T |
probably damaging |
Het |
Serpinb3c |
T |
A |
1: 107,200,883 (GRCm39) |
Y178F |
possibly damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,716,429 (GRCm39) |
H280R |
not run |
Het |
Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
Skor1 |
T |
C |
9: 63,053,783 (GRCm39) |
E62G |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,126,751 (GRCm39) |
N106I |
possibly damaging |
Het |
Slc44a4 |
T |
A |
17: 35,142,828 (GRCm39) |
|
probably null |
Het |
Sppl2c |
A |
G |
11: 104,079,342 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Stx5a |
T |
A |
19: 8,732,482 (GRCm39) |
W384R |
unknown |
Het |
Topaz1 |
A |
G |
9: 122,609,765 (GRCm39) |
Y1111C |
possibly damaging |
Het |
Ttbk1 |
T |
A |
17: 46,757,164 (GRCm39) |
M1157L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,578,489 (GRCm39) |
T24135A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,795,481 (GRCm39) |
E632G |
unknown |
Het |
Ttn |
T |
C |
2: 76,547,559 (GRCm39) |
T32204A |
probably benign |
Het |
Vmn2r109 |
T |
C |
17: 20,760,782 (GRCm39) |
I858M |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,272,869 (GRCm39) |
Q561L |
possibly damaging |
Het |
Yme1l1 |
A |
G |
2: 23,071,077 (GRCm39) |
D271G |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,211,167 (GRCm39) |
F214S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,308 (GRCm39) |
I246V |
probably benign |
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 |
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 |
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'- CCTCTCAGAAGATGAAAGTCTATCG -3'
(R):5'- AGCCTGTGAGTTGCAAGAG -3'
Sequencing Primer
(F):5'- TTTTCAGGTTGCAACTGAATAGG -3'
(R):5'- CCTGTGAGTTGCAAGAGGAAAGC -3'
|
Posted On |
2019-12-20 |