Incidental Mutation 'R8943:Cadm1'
ID 681102
Institutional Source Beutler Lab
Gene Symbol Cadm1
Ensembl Gene ENSMUSG00000032076
Gene Name cell adhesion molecule 1
Synonyms RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 47441471-47769413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47701136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 141 (I141T)
Ref Sequence ENSEMBL: ENSMUSP00000083073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]
AlphaFold Q8R5M8
Predicted Effect probably damaging
Transcript: ENSMUST00000034581
AA Change: I141T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 345 360 N/A INTRINSIC
4.1m 370 388 1.5e-3 SMART
low complexity region 389 396 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085909
AA Change: I141T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 368 N/A INTRINSIC
low complexity region 384 399 N/A INTRINSIC
4.1m 409 427 1.5e-3 SMART
low complexity region 428 435 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114547
AA Change: I141T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 362 N/A INTRINSIC
low complexity region 373 388 N/A INTRINSIC
4.1m 398 416 1.5e-3 SMART
low complexity region 417 424 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114548
AA Change: I141T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 356 371 N/A INTRINSIC
4.1m 381 399 1.5e-3 SMART
low complexity region 400 407 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143026
AA Change: I141T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
low complexity region 13 41 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
transmembrane domain 349 371 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152459
AA Change: I141T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: I141T

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
IG 52 144 3.33e-9 SMART
IG_like 160 230 8.08e-1 SMART
IGc2 261 323 2.08e-10 SMART
low complexity region 336 368 N/A INTRINSIC
low complexity region 402 417 N/A INTRINSIC
4.1m 427 445 1.5e-3 SMART
low complexity region 446 453 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lpcat1 A G 13: 73,662,029 (GRCm39) T409A probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null Het
Other mutations in Cadm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Cadm1 APN 9 47,761,622 (GRCm39) missense probably damaging 1.00
IGL01899:Cadm1 APN 9 47,721,389 (GRCm39) missense probably damaging 0.97
IGL02154:Cadm1 APN 9 47,725,201 (GRCm39) missense probably benign 0.00
IGL03196:Cadm1 APN 9 47,710,675 (GRCm39) missense possibly damaging 0.81
R0053:Cadm1 UTSW 9 47,710,712 (GRCm39) missense probably damaging 1.00
R0053:Cadm1 UTSW 9 47,710,712 (GRCm39) missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47,761,629 (GRCm39) missense probably damaging 1.00
R0058:Cadm1 UTSW 9 47,761,629 (GRCm39) missense probably damaging 1.00
R0671:Cadm1 UTSW 9 47,725,104 (GRCm39) missense probably benign 0.30
R0717:Cadm1 UTSW 9 47,721,366 (GRCm39) missense probably benign 0.14
R1622:Cadm1 UTSW 9 47,725,139 (GRCm39) missense probably benign 0.35
R1817:Cadm1 UTSW 9 47,740,668 (GRCm39) splice site probably benign
R1958:Cadm1 UTSW 9 47,761,633 (GRCm39) missense probably damaging 1.00
R3124:Cadm1 UTSW 9 47,710,775 (GRCm39) missense possibly damaging 0.94
R4214:Cadm1 UTSW 9 47,708,741 (GRCm39) missense probably damaging 0.99
R4449:Cadm1 UTSW 9 47,441,735 (GRCm39) missense possibly damaging 0.85
R4449:Cadm1 UTSW 9 47,725,286 (GRCm39) intron probably benign
R4701:Cadm1 UTSW 9 47,730,120 (GRCm39) splice site probably benign
R5932:Cadm1 UTSW 9 47,710,749 (GRCm39) missense probably damaging 1.00
R6013:Cadm1 UTSW 9 47,768,572 (GRCm39) unclassified probably benign
R6315:Cadm1 UTSW 9 47,721,417 (GRCm39) missense probably damaging 0.98
R6481:Cadm1 UTSW 9 47,699,407 (GRCm39) missense probably damaging 1.00
R7121:Cadm1 UTSW 9 47,710,708 (GRCm39) missense probably damaging 1.00
R7582:Cadm1 UTSW 9 47,708,740 (GRCm39) missense probably damaging 0.99
R8710:Cadm1 UTSW 9 47,759,466 (GRCm39) missense probably damaging 0.99
R9258:Cadm1 UTSW 9 47,710,730 (GRCm39) missense probably benign 0.01
R9300:Cadm1 UTSW 9 47,708,821 (GRCm39) nonsense probably null
R9675:Cadm1 UTSW 9 47,441,752 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTTGCACAATCACTGACTGTGTTC -3'
(R):5'- CCAAGAGCAGGTGGAGTCTATAC -3'

Sequencing Primer
(F):5'- CTGTTTCACAGCTTTGAAGGACAGC -3'
(R):5'- GCTGATTGCTATCCCTGAGAGC -3'
Posted On 2021-08-31