Incidental Mutation 'R9260:Cntnap4'
ID 702179
Institutional Source Beutler Lab
Gene Symbol Cntnap4
Ensembl Gene ENSMUSG00000031772
Gene Name contactin associated protein-like 4
Synonyms Caspr4, E130114F09Rik
MMRRC Submission 068962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9260 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 113296675-113609349 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113500276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 523 (I523V)
Ref Sequence ENSEMBL: ENSMUSP00000034225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034225] [ENSMUST00000118171]
AlphaFold Q99P47
Predicted Effect probably benign
Transcript: ENSMUST00000034225
AA Change: I523V

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034225
Gene: ENSMUSG00000031772
AA Change: I523V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FA58C 32 179 2.35e-19 SMART
LamG 206 343 5.14e-25 SMART
LamG 392 526 1.04e-25 SMART
EGF 554 588 1.4e0 SMART
Blast:FBG 591 775 1e-120 BLAST
LamG 815 942 1.01e-32 SMART
EGF 963 999 1.36e1 SMART
LamG 1040 1178 7.8e-16 SMART
transmembrane domain 1244 1266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118171
AA Change: I523V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112511
Gene: ENSMUSG00000031772
AA Change: I523V

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FA58C 32 179 2.35e-19 SMART
LamG 206 343 5.14e-25 SMART
LamG 392 526 1.04e-25 SMART
EGF 554 588 1.4e0 SMART
Blast:FBG 591 775 1e-120 BLAST
LamG 815 942 1.01e-32 SMART
EGF 963 999 1.36e1 SMART
LamG 1040 1178 2.06e-15 SMART
transmembrane domain 1244 1266 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous knock-out mice show increased midbrain dopaminergic release in the nucleus accumbens, synaptic defects, impaired sensory-motor gating, and increased grooming behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A G 1: 172,074,359 (GRCm39) I298T probably damaging Het
Bmper T A 9: 23,318,016 (GRCm39) L545H probably benign Het
Cacnb3 A G 15: 98,537,438 (GRCm39) S39G probably benign Het
Casr T C 16: 36,330,326 (GRCm39) K336R probably benign Het
Ccdc141 C A 2: 76,844,795 (GRCm39) G1424V probably damaging Het
Cd101 A T 3: 100,920,599 (GRCm39) D437E probably benign Het
Chadl A G 15: 81,578,058 (GRCm39) S524P probably damaging Het
Cimap2 T C 4: 106,472,634 (GRCm39) K84E probably benign Het
Clec4a4 C T 6: 123,000,895 (GRCm39) R203* probably null Het
Cpb1 T A 3: 20,316,638 (GRCm39) Y304F probably damaging Het
Dnajc14 T G 10: 128,642,766 (GRCm39) S229R possibly damaging Het
Dnajc15 A G 14: 78,081,839 (GRCm39) V101A possibly damaging Het
Dpyd A T 3: 119,108,447 (GRCm39) Y830F possibly damaging Het
Ehbp1l1 A G 19: 5,769,278 (GRCm39) V675A probably benign Het
F10 G A 8: 13,105,638 (GRCm39) C413Y probably damaging Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Fpr1 A T 17: 18,098,006 (GRCm39) probably benign Het
Frem2 G C 3: 53,560,204 (GRCm39) S1434R probably damaging Het
Gli3 G T 13: 15,899,675 (GRCm39) V1021F probably damaging Het
Gm7168 A T 17: 14,169,488 (GRCm39) N285I probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc1 T A 9: 66,325,691 (GRCm39) C1388* probably null Het
Hikeshi T C 7: 89,579,776 (GRCm39) probably benign Het
Hjv T A 3: 96,435,579 (GRCm39) I279N probably damaging Het
Igfn1 T C 1: 135,907,694 (GRCm39) E217G probably benign Het
Ighv1-59 T C 12: 115,298,737 (GRCm39) T106A probably benign Het
Igkv6-23 T A 6: 70,237,457 (GRCm39) I95F probably damaging Het
Il31ra A T 13: 112,668,202 (GRCm39) S456T probably damaging Het
Ints3 T C 3: 90,308,468 (GRCm39) D610G probably damaging Het
Iqcg G A 16: 32,855,973 (GRCm39) Q201* probably null Het
Kat14 T A 2: 144,235,441 (GRCm39) D300E probably benign Het
Kbtbd13 T C 9: 65,298,852 (GRCm39) H28R possibly damaging Het
Kcnh2 A T 5: 24,528,069 (GRCm39) D866E probably damaging Het
Kdm4b A G 17: 56,701,775 (GRCm39) T595A probably benign Het
Lct C T 1: 128,227,704 (GRCm39) W1263* probably null Het
Micall2 T A 5: 139,695,453 (GRCm39) M905L unknown Het
Mkrn1 T C 6: 39,382,530 (GRCm39) probably benign Het
Mobp A G 9: 119,997,572 (GRCm39) T164A unknown Het
Mtrr T C 13: 68,728,674 (GRCm39) E42G possibly damaging Het
Muc5b T A 7: 141,405,255 (GRCm39) W888R unknown Het
Myh7 G A 14: 55,224,842 (GRCm39) A575V probably damaging Het
Nbea A C 3: 55,891,233 (GRCm39) L1612W possibly damaging Het
Notch3 A G 17: 32,362,216 (GRCm39) probably null Het
Nsun4 T C 4: 115,902,007 (GRCm39) Y153C probably damaging Het
Nup210 A G 6: 91,039,785 (GRCm39) I690T probably benign Het
Nyap2 T A 1: 81,064,835 (GRCm39) probably benign Het
Oaz1 T A 10: 80,662,603 (GRCm39) S4T possibly damaging Het
Optn C T 2: 5,045,076 (GRCm39) C222Y probably benign Het
Or11i1 A G 3: 106,729,510 (GRCm39) S122P probably damaging Het
Or4f17-ps1 T A 2: 111,358,271 (GRCm39) V222E Het
Or5ac19 T C 16: 59,089,677 (GRCm39) M118V probably damaging Het
Or6c76b G A 10: 129,692,458 (GRCm39) V24M probably benign Het
Or7a40 A T 16: 16,491,337 (GRCm39) C169* probably null Het
Osmr T A 15: 6,882,033 (GRCm39) H37L probably benign Het
Pccb G T 9: 100,877,643 (GRCm39) P287Q probably benign Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Pdcd6ip A T 9: 113,526,572 (GRCm39) probably null Het
Pde9a T C 17: 31,678,137 (GRCm39) probably null Het
Pdk2 C A 11: 94,930,260 (GRCm39) V59F probably damaging Het
Pgm1 T A 4: 99,827,186 (GRCm39) V362E probably damaging Het
Pmepa1 CCGGCGGCGGCGGCGGCGG CCGGCGGCGGCGGCGG 2: 173,117,943 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,904 (GRCm39) F97S possibly damaging Het
Ppp5c C T 7: 16,740,886 (GRCm39) V361I probably benign Het
Prrt1 A G 17: 34,850,120 (GRCm39) Y178C probably damaging Het
Psmb11 A T 14: 54,863,033 (GRCm39) I84F probably damaging Het
Smg7 A G 1: 152,737,549 (GRCm39) S131P probably damaging Het
Snrnp200 T A 2: 127,078,428 (GRCm39) L1728Q probably damaging Het
Stbd1 A T 5: 92,753,456 (GRCm39) E315D probably damaging Het
Tcaf1 C T 6: 42,663,554 (GRCm39) G109R possibly damaging Het
Thap12 C T 7: 98,356,280 (GRCm39) R56* probably null Het
Ttn T C 2: 76,645,919 (GRCm39) E12848G probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Uqcrfs1 G A 13: 30,725,108 (GRCm39) A144V probably damaging Het
Usp13 T A 3: 32,955,909 (GRCm39) probably benign Het
Wdr19 T A 5: 65,363,789 (GRCm39) D67E possibly damaging Het
Zfp998 A T 13: 66,579,375 (GRCm39) H369Q unknown Het
Zkscan3 A T 13: 21,578,210 (GRCm39) W226R probably damaging Het
Zmym5 A C 14: 57,041,641 (GRCm39) F154C probably damaging Het
Other mutations in Cntnap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00847:Cntnap4 APN 8 113,494,251 (GRCm39) splice site probably benign
IGL01898:Cntnap4 APN 8 113,582,939 (GRCm39) missense possibly damaging 0.46
IGL01918:Cntnap4 APN 8 113,478,866 (GRCm39) missense possibly damaging 0.67
IGL02257:Cntnap4 APN 8 113,343,126 (GRCm39) missense probably damaging 1.00
IGL02302:Cntnap4 APN 8 113,512,535 (GRCm39) splice site probably benign
IGL02621:Cntnap4 APN 8 113,537,355 (GRCm39) missense probably damaging 1.00
IGL03008:Cntnap4 APN 8 113,500,222 (GRCm39) missense probably benign 0.06
IGL03327:Cntnap4 APN 8 113,500,208 (GRCm39) missense probably benign 0.00
IGL03346:Cntnap4 APN 8 113,500,208 (GRCm39) missense probably benign 0.00
R0025:Cntnap4 UTSW 8 113,529,796 (GRCm39) missense probably damaging 1.00
R0025:Cntnap4 UTSW 8 113,529,796 (GRCm39) missense probably damaging 1.00
R0058:Cntnap4 UTSW 8 113,512,416 (GRCm39) missense probably damaging 0.98
R0310:Cntnap4 UTSW 8 113,569,148 (GRCm39) critical splice acceptor site probably null
R0363:Cntnap4 UTSW 8 113,583,143 (GRCm39) nonsense probably null
R0497:Cntnap4 UTSW 8 113,296,783 (GRCm39) missense probably benign 0.00
R1495:Cntnap4 UTSW 8 113,608,395 (GRCm39) missense possibly damaging 0.81
R1579:Cntnap4 UTSW 8 113,608,462 (GRCm39) missense possibly damaging 0.89
R1704:Cntnap4 UTSW 8 113,484,155 (GRCm39) missense probably damaging 1.00
R1943:Cntnap4 UTSW 8 113,542,128 (GRCm39) missense probably benign 0.10
R2160:Cntnap4 UTSW 8 113,484,203 (GRCm39) missense probably damaging 1.00
R2226:Cntnap4 UTSW 8 113,542,120 (GRCm39) missense probably damaging 0.98
R3148:Cntnap4 UTSW 8 113,484,071 (GRCm39) missense probably damaging 1.00
R3916:Cntnap4 UTSW 8 113,602,165 (GRCm39) missense probably benign 0.02
R3917:Cntnap4 UTSW 8 113,602,165 (GRCm39) missense probably benign 0.02
R4097:Cntnap4 UTSW 8 113,478,939 (GRCm39) missense probably benign 0.03
R4348:Cntnap4 UTSW 8 113,480,554 (GRCm39) missense probably damaging 1.00
R4469:Cntnap4 UTSW 8 113,391,898 (GRCm39) missense probably damaging 1.00
R4530:Cntnap4 UTSW 8 113,584,842 (GRCm39) missense probably benign 0.32
R4531:Cntnap4 UTSW 8 113,537,240 (GRCm39) missense possibly damaging 0.90
R4586:Cntnap4 UTSW 8 113,537,342 (GRCm39) missense probably benign
R4611:Cntnap4 UTSW 8 113,500,371 (GRCm39) critical splice donor site probably null
R4675:Cntnap4 UTSW 8 113,512,468 (GRCm39) missense probably damaging 1.00
R4801:Cntnap4 UTSW 8 113,500,222 (GRCm39) missense possibly damaging 0.94
R4802:Cntnap4 UTSW 8 113,500,222 (GRCm39) missense possibly damaging 0.94
R5273:Cntnap4 UTSW 8 113,460,070 (GRCm39) missense probably damaging 1.00
R6114:Cntnap4 UTSW 8 113,568,385 (GRCm39) missense probably damaging 1.00
R6194:Cntnap4 UTSW 8 113,602,061 (GRCm39) missense probably damaging 1.00
R6222:Cntnap4 UTSW 8 113,569,353 (GRCm39) missense probably damaging 1.00
R6262:Cntnap4 UTSW 8 113,529,843 (GRCm39) missense probably damaging 0.99
R6276:Cntnap4 UTSW 8 113,478,921 (GRCm39) missense possibly damaging 0.94
R6483:Cntnap4 UTSW 8 113,484,105 (GRCm39) missense possibly damaging 0.82
R6819:Cntnap4 UTSW 8 113,529,858 (GRCm39) missense probably benign 0.03
R7031:Cntnap4 UTSW 8 113,584,874 (GRCm39) missense probably benign 0.01
R7107:Cntnap4 UTSW 8 113,542,120 (GRCm39) missense probably damaging 0.98
R7146:Cntnap4 UTSW 8 113,537,268 (GRCm39) missense probably damaging 1.00
R7192:Cntnap4 UTSW 8 113,608,432 (GRCm39) missense probably benign 0.05
R7232:Cntnap4 UTSW 8 113,391,731 (GRCm39) splice site probably null
R7348:Cntnap4 UTSW 8 113,391,909 (GRCm39) missense probably damaging 1.00
R7482:Cntnap4 UTSW 8 113,460,194 (GRCm39) critical splice donor site probably null
R7832:Cntnap4 UTSW 8 113,484,113 (GRCm39) missense probably benign
R7895:Cntnap4 UTSW 8 113,478,829 (GRCm39) missense probably damaging 0.99
R8014:Cntnap4 UTSW 8 113,480,577 (GRCm39) missense probably damaging 0.99
R8185:Cntnap4 UTSW 8 113,391,897 (GRCm39) missense probably damaging 1.00
R8197:Cntnap4 UTSW 8 113,296,857 (GRCm39) missense probably benign 0.00
R8287:Cntnap4 UTSW 8 113,585,775 (GRCm39) missense probably damaging 1.00
R8299:Cntnap4 UTSW 8 113,500,324 (GRCm39) missense probably damaging 1.00
R8498:Cntnap4 UTSW 8 113,602,211 (GRCm39) missense possibly damaging 0.52
R8699:Cntnap4 UTSW 8 113,484,228 (GRCm39) missense probably damaging 1.00
R8774:Cntnap4 UTSW 8 113,529,820 (GRCm39) missense probably benign 0.01
R8774-TAIL:Cntnap4 UTSW 8 113,529,820 (GRCm39) missense probably benign 0.01
R8872:Cntnap4 UTSW 8 113,585,759 (GRCm39) missense possibly damaging 0.79
R8895:Cntnap4 UTSW 8 113,479,598 (GRCm39) missense probably benign 0.40
R8965:Cntnap4 UTSW 8 113,479,646 (GRCm39) missense probably damaging 1.00
R9189:Cntnap4 UTSW 8 113,602,600 (GRCm39) missense possibly damaging 0.92
R9474:Cntnap4 UTSW 8 113,460,103 (GRCm39) missense probably damaging 0.99
R9565:Cntnap4 UTSW 8 113,582,982 (GRCm39) missense probably benign 0.43
R9625:Cntnap4 UTSW 8 113,602,181 (GRCm39) missense possibly damaging 0.82
R9629:Cntnap4 UTSW 8 113,568,349 (GRCm39) missense probably damaging 1.00
R9745:Cntnap4 UTSW 8 113,391,808 (GRCm39) missense possibly damaging 0.89
R9765:Cntnap4 UTSW 8 113,568,496 (GRCm39) missense probably damaging 0.97
R9765:Cntnap4 UTSW 8 113,484,110 (GRCm39) missense probably benign 0.00
R9793:Cntnap4 UTSW 8 113,608,357 (GRCm39) missense probably benign 0.00
R9795:Cntnap4 UTSW 8 113,608,357 (GRCm39) missense probably benign 0.00
X0025:Cntnap4 UTSW 8 113,585,775 (GRCm39) missense probably damaging 1.00
X0063:Cntnap4 UTSW 8 113,602,211 (GRCm39) missense probably benign 0.05
Z1088:Cntnap4 UTSW 8 113,542,152 (GRCm39) missense probably damaging 1.00
Z1176:Cntnap4 UTSW 8 113,584,821 (GRCm39) missense possibly damaging 0.70
Z1186:Cntnap4 UTSW 8 113,479,002 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCTCCTCTAATGCCGAGAATAATC -3'
(R):5'- AGCATGAGCCTTGTAGTATGG -3'

Sequencing Primer
(F):5'- CTGCTGTGATTCCAAACA -3'
(R):5'- AGCCTTGTAGTATGGTAGCATATTC -3'
Posted On 2022-03-25