Incidental Mutation 'R4472:Cntn5'
ID 330415
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 041729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4472 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 9660896-10904780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10048776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 262 (D262E)
Ref Sequence ENSEMBL: ENSMUSP00000124327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]
AlphaFold P68500
Predicted Effect probably damaging
Transcript: ENSMUST00000074133
AA Change: D262E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: D262E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc2 113 179 1.11e-10 SMART
IG 201 289 4.82e-6 SMART
IGc2 312 375 1.4e-16 SMART
IGc2 401 464 8.97e-15 SMART
IGc2 493 557 4.96e-8 SMART
IG 577 667 2.13e-7 SMART
FN3 670 756 1.01e-11 SMART
FN3 773 859 9.19e-1 SMART
FN3 875 958 3.99e-10 SMART
FN3 974 1053 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160216
AA Change: D262E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: D262E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc2 113 179 1.11e-10 SMART
IG 201 289 4.82e-6 SMART
IGc2 312 375 1.4e-16 SMART
IGc2 401 464 8.97e-15 SMART
IGc2 493 557 4.96e-8 SMART
IG 577 667 2.13e-7 SMART
FN3 670 756 1.01e-11 SMART
FN3 773 859 9.19e-1 SMART
FN3 875 958 3.99e-10 SMART
FN3 974 1053 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162484
AA Change: D57E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: D57E

DomainStartEndE-ValueType
IG_like 10 84 1.12e2 SMART
IGc2 107 170 1.4e-16 SMART
IGc2 196 259 8.97e-15 SMART
IGc2 288 352 4.96e-8 SMART
IG 372 462 2.13e-7 SMART
FN3 465 551 1.01e-11 SMART
FN3 568 654 9.19e-1 SMART
FN3 670 753 3.99e-10 SMART
FN3 769 848 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179049
AA Change: D57E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: D57E

DomainStartEndE-ValueType
IG_like 10 84 1.12e2 SMART
IGc2 107 170 1.4e-16 SMART
IGc2 196 259 8.97e-15 SMART
IGc2 288 352 4.96e-8 SMART
IG 372 462 2.13e-7 SMART
FN3 465 551 1.01e-11 SMART
FN3 568 654 9.19e-1 SMART
FN3 670 753 3.99e-10 SMART
FN3 769 848 1.68e-3 SMART
Meta Mutation Damage Score 0.5370 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A T 9: 39,961,994 (GRCm39) noncoding transcript Het
Accsl T A 2: 93,694,336 (GRCm39) probably null Het
Accsl G T 2: 93,694,337 (GRCm39) probably null Het
Adcy1 G A 11: 7,080,369 (GRCm39) V371M probably damaging Het
Adgrb2 C T 4: 129,902,146 (GRCm39) A509V probably benign Het
Adgrg6 T A 10: 14,312,525 (GRCm39) Q754L probably damaging Het
Agap2 T C 10: 126,927,082 (GRCm39) I1008T probably damaging Het
Aph1c T G 9: 66,735,051 (GRCm39) H150P probably damaging Het
Atcay T C 10: 81,048,361 (GRCm39) R242G possibly damaging Het
Atg2a G A 19: 6,308,985 (GRCm39) V1724M probably damaging Het
Bbs12 T C 3: 37,373,369 (GRCm39) V54A possibly damaging Het
Card14 A G 11: 119,224,784 (GRCm39) M604V possibly damaging Het
Cd28 A T 1: 60,802,393 (GRCm39) H104L probably benign Het
Col6a3 A G 1: 90,749,736 (GRCm39) V366A probably benign Het
Csnk1d G A 11: 120,855,800 (GRCm39) probably benign Het
Dcaf11 T A 14: 55,803,063 (GRCm39) probably benign Het
Dpy19l4 G A 4: 11,304,053 (GRCm39) T119M possibly damaging Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Fbrsl1 G A 5: 110,526,932 (GRCm39) probably benign Het
Fbxo10 C T 4: 45,043,693 (GRCm39) R710H probably damaging Het
Fbxw9 G A 8: 85,786,829 (GRCm39) D25N probably damaging Het
Gm14295 C T 2: 176,501,386 (GRCm39) T292I possibly damaging Het
Gm4884 C G 7: 40,692,687 (GRCm39) Q219E probably benign Het
Gpr150 A G 13: 76,204,273 (GRCm39) V224A probably benign Het
Hps1 A T 19: 42,750,935 (GRCm39) I355N probably damaging Het
Lmbr1l A G 15: 98,804,178 (GRCm39) S374P probably benign Het
Macf1 A T 4: 123,289,782 (GRCm39) N5458K probably damaging Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Morc3 A G 16: 93,671,645 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,631,539 (GRCm39) T21A probably benign Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Nkain4 C G 2: 180,596,415 (GRCm39) M1I probably null Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Oas2 A T 5: 120,879,220 (GRCm39) D373E possibly damaging Het
Or8g37 T A 9: 39,731,870 (GRCm39) *312R probably null Het
Oser1 T A 2: 163,257,500 (GRCm39) E11V probably null Het
Oser1 C T 2: 163,257,501 (GRCm39) E11K probably damaging Het
Pacsin3 A G 2: 91,093,288 (GRCm39) probably null Het
Pcdh20 T C 14: 88,706,434 (GRCm39) S289G probably benign Het
Phlpp1 A G 1: 106,314,176 (GRCm39) D1183G probably damaging Het
Pign T C 1: 105,575,945 (GRCm39) K232E probably benign Het
Polk A G 13: 96,630,413 (GRCm39) S383P probably damaging Het
Prom2 C A 2: 127,382,111 (GRCm39) R101L probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rnf31 T A 14: 55,840,777 (GRCm39) Y1015N probably damaging Het
Spata3 T C 1: 85,954,152 (GRCm39) Y305H probably benign Het
Sv2a G A 3: 96,099,810 (GRCm39) V587M probably benign Het
Synj1 A G 16: 90,766,069 (GRCm39) probably null Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcaf1 A C 6: 42,656,248 (GRCm39) S243A probably benign Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trav4-4-dv10 T C 14: 53,921,187 (GRCm39) probably benign Het
Trbv15 G A 6: 41,118,493 (GRCm39) R83Q probably damaging Het
Trim27 A G 13: 21,374,056 (GRCm39) I268V probably benign Het
Tubgcp6 T A 15: 88,987,857 (GRCm39) S1031C probably damaging Het
Vmn1r89 C A 7: 12,953,799 (GRCm39) H110Q probably benign Het
Vmn2r30 T C 7: 7,320,091 (GRCm39) N545S probably damaging Het
Wls G A 3: 159,603,020 (GRCm39) M144I probably benign Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zeb2 A T 2: 44,913,023 (GRCm39) L56Q probably damaging Het
Other mutations in Cntn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Cntn5 APN 9 9,976,302 (GRCm39) missense probably damaging 0.99
IGL01118:Cntn5 APN 9 9,831,565 (GRCm39) missense possibly damaging 0.94
IGL01328:Cntn5 APN 9 9,781,773 (GRCm39) missense probably damaging 1.00
IGL01445:Cntn5 APN 9 9,693,489 (GRCm39) splice site probably benign
IGL01505:Cntn5 APN 9 9,706,092 (GRCm39) missense probably damaging 1.00
IGL01556:Cntn5 APN 9 9,673,913 (GRCm39) missense probably benign
IGL01804:Cntn5 APN 9 9,831,542 (GRCm39) missense probably damaging 0.99
IGL02173:Cntn5 APN 9 9,748,401 (GRCm39) missense probably damaging 1.00
IGL02250:Cntn5 APN 9 10,145,336 (GRCm39) missense probably damaging 1.00
IGL02366:Cntn5 APN 9 9,984,060 (GRCm39) splice site probably benign
IGL02565:Cntn5 APN 9 10,145,343 (GRCm39) nonsense probably null
IGL02593:Cntn5 APN 9 9,833,504 (GRCm39) missense probably damaging 1.00
IGL02743:Cntn5 APN 9 9,984,115 (GRCm39) missense probably damaging 1.00
IGL02976:Cntn5 APN 9 10,419,104 (GRCm39) unclassified probably benign
IGL03103:Cntn5 APN 9 9,972,817 (GRCm39) splice site probably benign
IGL03114:Cntn5 APN 9 9,748,457 (GRCm39) missense probably damaging 1.00
IGL03156:Cntn5 APN 9 9,673,882 (GRCm39) missense probably damaging 1.00
IGL02802:Cntn5 UTSW 9 10,048,683 (GRCm39) splice site probably null
R0243:Cntn5 UTSW 9 9,781,780 (GRCm39) missense probably damaging 1.00
R0385:Cntn5 UTSW 9 9,972,875 (GRCm39) missense probably damaging 1.00
R0541:Cntn5 UTSW 9 9,673,407 (GRCm39) splice site probably benign
R0827:Cntn5 UTSW 9 9,666,943 (GRCm39) missense possibly damaging 0.88
R1029:Cntn5 UTSW 9 9,831,577 (GRCm39) missense probably damaging 1.00
R1440:Cntn5 UTSW 9 10,145,344 (GRCm39) missense probably damaging 1.00
R1463:Cntn5 UTSW 9 9,673,801 (GRCm39) critical splice donor site probably null
R1536:Cntn5 UTSW 9 9,976,321 (GRCm39) missense possibly damaging 0.78
R1746:Cntn5 UTSW 9 9,831,577 (GRCm39) missense probably damaging 1.00
R1761:Cntn5 UTSW 9 10,172,059 (GRCm39) missense probably benign 0.01
R1764:Cntn5 UTSW 9 9,673,988 (GRCm39) missense probably benign
R1859:Cntn5 UTSW 9 9,972,839 (GRCm39) missense probably damaging 1.00
R1888:Cntn5 UTSW 9 9,984,082 (GRCm39) missense possibly damaging 0.95
R1888:Cntn5 UTSW 9 9,984,082 (GRCm39) missense possibly damaging 0.95
R1950:Cntn5 UTSW 9 9,781,774 (GRCm39) missense probably damaging 1.00
R2143:Cntn5 UTSW 9 9,748,420 (GRCm39) missense probably damaging 0.98
R2145:Cntn5 UTSW 9 9,748,420 (GRCm39) missense probably damaging 0.98
R2437:Cntn5 UTSW 9 10,048,758 (GRCm39) nonsense probably null
R2440:Cntn5 UTSW 9 10,171,960 (GRCm39) missense possibly damaging 0.91
R2504:Cntn5 UTSW 9 10,172,126 (GRCm39) missense probably benign
R3054:Cntn5 UTSW 9 10,419,076 (GRCm39) missense probably benign 0.30
R3056:Cntn5 UTSW 9 10,419,076 (GRCm39) missense probably benign 0.30
R3804:Cntn5 UTSW 9 9,781,668 (GRCm39) splice site probably benign
R4164:Cntn5 UTSW 9 9,781,681 (GRCm39) missense probably damaging 1.00
R4444:Cntn5 UTSW 9 9,704,947 (GRCm39) missense probably damaging 1.00
R4576:Cntn5 UTSW 9 9,673,297 (GRCm39) missense probably benign 0.10
R4624:Cntn5 UTSW 9 9,704,809 (GRCm39) nonsense probably null
R4652:Cntn5 UTSW 9 9,704,917 (GRCm39) missense possibly damaging 0.68
R4664:Cntn5 UTSW 9 10,144,214 (GRCm39) missense possibly damaging 0.71
R4679:Cntn5 UTSW 9 9,970,536 (GRCm39) missense probably benign 0.09
R4829:Cntn5 UTSW 9 9,976,288 (GRCm39) missense probably damaging 1.00
R4929:Cntn5 UTSW 9 9,976,400 (GRCm39) critical splice acceptor site probably null
R5211:Cntn5 UTSW 9 9,704,894 (GRCm39) missense possibly damaging 0.88
R5406:Cntn5 UTSW 9 9,833,465 (GRCm39) missense probably damaging 1.00
R5468:Cntn5 UTSW 9 9,743,633 (GRCm39) missense probably damaging 1.00
R5584:Cntn5 UTSW 9 9,661,457 (GRCm39) missense possibly damaging 0.91
R5688:Cntn5 UTSW 9 9,748,427 (GRCm39) missense probably damaging 1.00
R5762:Cntn5 UTSW 9 9,748,394 (GRCm39) missense possibly damaging 0.95
R6141:Cntn5 UTSW 9 10,144,162 (GRCm39) missense probably benign
R6147:Cntn5 UTSW 9 10,012,894 (GRCm39) missense probably damaging 0.98
R6325:Cntn5 UTSW 9 10,144,328 (GRCm39) splice site probably null
R6377:Cntn5 UTSW 9 9,743,657 (GRCm39) missense probably damaging 1.00
R6774:Cntn5 UTSW 9 10,144,222 (GRCm39) missense probably damaging 1.00
R7117:Cntn5 UTSW 9 10,904,704 (GRCm39) start gained probably benign
R7252:Cntn5 UTSW 9 9,831,640 (GRCm39) missense probably benign 0.00
R7363:Cntn5 UTSW 9 10,172,021 (GRCm39) missense probably benign 0.00
R7401:Cntn5 UTSW 9 9,833,466 (GRCm39) missense probably benign 0.13
R7488:Cntn5 UTSW 9 9,970,570 (GRCm39) missense probably damaging 0.99
R7548:Cntn5 UTSW 9 9,673,415 (GRCm39) splice site probably null
R7662:Cntn5 UTSW 9 9,661,390 (GRCm39) missense probably benign 0.17
R7718:Cntn5 UTSW 9 9,984,133 (GRCm39) missense probably benign
R7719:Cntn5 UTSW 9 9,704,903 (GRCm39) missense probably damaging 1.00
R7788:Cntn5 UTSW 9 9,704,934 (GRCm39) missense probably benign 0.01
R7864:Cntn5 UTSW 9 9,984,182 (GRCm39) missense probably damaging 0.98
R7937:Cntn5 UTSW 9 9,748,450 (GRCm39) missense probably damaging 1.00
R8117:Cntn5 UTSW 9 9,673,955 (GRCm39) missense probably benign 0.33
R8159:Cntn5 UTSW 9 10,145,386 (GRCm39) missense possibly damaging 0.91
R8349:Cntn5 UTSW 9 9,666,840 (GRCm39) critical splice donor site probably null
R8449:Cntn5 UTSW 9 9,666,840 (GRCm39) critical splice donor site probably null
R8779:Cntn5 UTSW 9 10,171,920 (GRCm39) missense probably benign
R8789:Cntn5 UTSW 9 9,673,292 (GRCm39) missense probably damaging 1.00
R8985:Cntn5 UTSW 9 10,171,960 (GRCm39) missense possibly damaging 0.91
R9370:Cntn5 UTSW 9 9,833,520 (GRCm39) missense probably benign 0.19
R9382:Cntn5 UTSW 9 9,673,817 (GRCm39) missense probably benign
R9781:Cntn5 UTSW 9 10,048,686 (GRCm39) critical splice donor site probably null
Z1177:Cntn5 UTSW 9 10,090,241 (GRCm39) missense probably damaging 1.00
Z1177:Cntn5 UTSW 9 9,673,967 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGCGGCATACACAAACTC -3'
(R):5'- GCTTTGTCTGCCAGTTAAATGATC -3'

Sequencing Primer
(F):5'- CATTTGTGAGTAGGGCAGATGC -3'
(R):5'- GGTCTTCAATGAGTTCCC -3'
Posted On 2015-07-21